A subclass of ACIDIC GLYCOSPHINGOLIPIDS. They contain one or more sialic acid (N-ACETYLNEURAMINIC ACID) residues. Using the Svennerholm system of abbrevations, gangliosides are designated G for ganglioside, plus subscript M, D, or T for mono-, di-, or trisialo, respectively, the subscript letter being followed by a subscript arabic numeral to indicated sequence of migration in thin-layer chromatograms. (From Oxford Dictionary of Biochemistry and Molecular Biology, 1997)
An essential cofactor for the degradation of G(M2)GANGLIOSIDE by lysosomal BETA-N-ACETYLHEXOSAMINIDASES. Genetic mutations resulting in loss of G(M2) activator protein are one of the causes of TAY-SACHS DISEASE, AB VARIANT.
A family of glycoprotein cofactors that are required for the efficient catabolization of SPHINGOLIPIDS by specific acid hydrolases such as GLUCOSYLCERAMIDASE; GALACTOCEREBROSIDASE; BETA-N-ACETYLHEXOSAMINIDASE; and CEREBROSIDE-SULFATASE.
A glycosphingolipid that accumulates due to a deficiency of hexosaminidase A or B (BETA-N-ACETYLHEXOSAMINIDASES), or GM2 activator protein, resulting in GANGLIOSIDOSES, heredity metabolic disorders that include TAY-SACHS DISEASE and SANDHOFF DISEASE.
A group of four homologous sphingolipid activator proteins that are formed from proteolytic cleavage of a common protein precursor molecule referred to as prosaposin.
A ganglioside present in abnormally large amounts in the brain and liver due to a deficient biosynthetic enzyme, G(M3):UDP-N-acetylgalactosaminyltransferase. Deficiency of this enzyme prevents the formation of G(M2) ganglioside from G(M3) ganglioside and is the cause of an anabolic sphingolipidosis.
A specific monosialoganglioside that accumulates abnormally within the nervous system due to a deficiency of GM1-b-galactosidase, resulting in GM1 gangliosidosis.
A multiprotein complex composed of the products of c-jun and c-fos proto-oncogenes. These proteins must dimerize in order to bind to the AP-1 recognition site, also known as the TPA-responsive element (TRE). AP-1 controls both basal and inducible transcription of several genes.
Chromatography on thin layers of adsorbents rather than in columns. The adsorbent can be alumina, silica gel, silicates, charcoals, or cellulose. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
Lipids containing at least one monosaccharide residue and either a sphingoid or a ceramide (CERAMIDES). They are subdivided into NEUTRAL GLYCOSPHINGOLIPIDS comprising monoglycosyl- and oligoglycosylsphingoids and monoglycosyl- and oligoglycosylceramides; and ACIDIC GLYCOSPHINGOLIPIDS which comprises sialosylglycosylsphingolipids (GANGLIOSIDES); SULFOGLYCOSPHINGOLIPIDS (formerly known as sulfatides), glycuronoglycosphingolipids, and phospho- and phosphonoglycosphingolipids. (From IUPAC's webpage)
A proteolytic enzyme in the serine protease family found in many tissues which converts PLASMINOGEN to FIBRINOLYSIN. It has fibrin-binding activity and is immunologically different from UROKINASE-TYPE PLASMINOGEN ACTIVATOR. The primary sequence, composed of 527 amino acids, is identical in both the naturally occurring and synthetic proteases.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The sequence of carbohydrates within POLYSACCHARIDES; GLYCOPROTEINS; and GLYCOLIPIDS.
A transcriptional regulator in prokaryotes which, when activated by binding cyclic AMP, acts at several promoters. Cyclic AMP receptor protein was originally identified as a catabolite gene activator protein. It was subsequently shown to regulate several functions unrelated to catabolism, and to be both a negative and a positive regulator of transcription. Cell surface cyclic AMP receptors are not included (CYCLIC AMP RECEPTORS), nor are the eukaryotic cytoplasmic cyclic AMP receptor proteins, which are the regulatory subunits of CYCLIC AMP-DEPENDENT PROTEIN KINASES.
A group of naturally occurring N-and O-acyl derivatives of the deoxyamino sugar neuraminic acid. They are ubiquitously distributed in many tissues.
A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.
A hexosaminidase specific for non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. It acts on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES. Two specific mammalian isoenzymes of beta-N-acetylhexoaminidase are referred to as HEXOSAMINIDASE A and HEXOSAMINIDASE B. Deficiency of the type A isoenzyme causes TAY-SACHS DISEASE, while deficiency of both A and B isozymes causes SANDHOFF DISEASE. The enzyme has also been used as a tumor marker to distinguish between malignant and benign disease.
A member of the serpin family of proteins. It inhibits both the tissue-type and urokinase-type plasminogen activators.
DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.
A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.
A proteolytic enzyme that converts PLASMINOGEN to FIBRINOLYSIN where the preferential cleavage is between ARGININE and VALINE. It was isolated originally from human URINE, but is found in most tissues of most VERTEBRATES.
A mammalian beta-hexosaminidase isoform that is a heteromeric protein comprized of both hexosaminidase alpha and hexosaminidase beta subunits. Deficiency of hexosaminidase A due to mutations in the gene encoding the hexosaminidase alpha subunit is a case of TAY-SACHS DISEASE. Deficiency of hexosaminidase A and HEXOSAMINIDASE B due to mutations in the gene encoding the hexosaminidase beta subunit is a case of SANDHOFF DISEASE.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Cellular DNA-binding proteins encoded by the c-jun genes (GENES, JUN). They are involved in growth-related transcriptional control. There appear to be three distinct functions: dimerization (with c-fos), DNA-binding, and transcriptional activation. Oncogenic transformation can take place by constitutive expression of c-jun.
An enzyme that catalyzes the hydrolysis of alpha-2,3, alpha-2,6-, and alpha-2,8-glycosidic linkages (at a decreasing rate, respectively) of terminal sialic residues in oligosaccharides, glycoproteins, glycolipids, colominic acid, and synthetic substrate. (From Enzyme Nomenclature, 1992)
A transcription factor that is essential for CELL DIFFERENTIATION of B-LYMPHOCYTES. It functions both as a transcriptional activator and repressor to mediate B-cell commitment.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
An N-acyl derivative of neuraminic acid. N-acetylneuraminic acid occurs in many polysaccharides, glycoproteins, and glycolipids in animals and bacteria. (From Dorland, 28th ed, p1518)
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
A family of DNA binding proteins that regulate expression of a variety of GENES during CELL DIFFERENTIATION and APOPTOSIS. Family members contain a highly conserved carboxy-terminal basic HELIX-TURN-HELIX MOTIF involved in dimerization and sequence-specific DNA binding.
An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.
A group of enzymes with the general formula CMP-N-acetylneuraminate:acceptor N-acetylneuraminyl transferase. They catalyze the transfer of N-acetylneuraminic acid from CMP-N-acetylneuraminic acid to an acceptor, which is usually the terminal sugar residue of an oligosaccharide, a glycoprotein, or a glycolipid. EC 2.4.99.-.
Any compound containing one or more monosaccharide residues bound by a glycosidic linkage to a hydrophobic moiety such as an acylglycerol (see GLYCERIDES), a sphingoid, a ceramide (CERAMIDES) (N-acylsphingoid) or a prenyl phosphate. (From IUPAC's webpage)
The parts of a macromolecule that directly participate in its specific combination with another molecule.
GLYCOSPHINGOLIPIDS with a sulfate group esterified to one of the sugar groups.
Diffusible gene products that act on homologous or heterologous molecules of viral or cellular DNA to regulate the expression of proteins.
The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.
GLYCEROL esterified with a single acyl (FATTY ACIDS) chain.
Cellular DNA-binding proteins encoded by the c-fos genes (GENES, FOS). They are involved in growth-related transcriptional control. c-fos combines with c-jun (PROTO-ONCOGENE PROTEINS C-JUN) to form a c-fos/c-jun heterodimer (TRANSCRIPTION FACTOR AP-1) that binds to the TRE (TPA-responsive element) in promoters of certain genes.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
Enzymes that catalyze the transfer of N-acetylgalactosamine from a nucleoside diphosphate N-acetylgalactosamine to an acceptor molecule which is frequently another carbohydrate. EC 2.4.1.-.
Established cell cultures that have the potential to propagate indefinitely.
Processes that stimulate the GENETIC TRANSCRIPTION of a gene or set of genes.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
Conversion of an inactive form of an enzyme to one possessing metabolic activity. It includes 1, activation by ions (activators); 2, activation by cofactors (coenzymes); and 3, conversion of an enzyme precursor (proenzyme or zymogen) to an active enzyme.
Glycosphingolipids containing N-acetylglucosamine (paragloboside) or N-acetylgalactosamine (globoside). Globoside is the P antigen on erythrocytes and paragloboside is an intermediate in the biosynthesis of erythrocyte blood group ABH and P 1 glycosphingolipid antigens. The accumulation of globoside in tissue, due to a defect in hexosaminidases A and B, is the cause of Sandhoff disease.
An extracellular receptor specific for UROKINASE-TYPE PLASMINOGEN ACTIVATOR. It is attached to the cell membrane via a GLYCOSYLPHOSPHATIDYLINOSITOL LINKAGE and plays a role in the co-localization of urokinase-type plasminogen activator with PLASMINOGEN.
Conjugated protein-carbohydrate compounds including mucins, mucoid, and amyloid glycoproteins.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.
A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.
A heterogeneous group of proteolytic enzymes that convert PLASMINOGEN to FIBRINOLYSIN. They are concentrated in the lysosomes of most cells and in the vascular endothelium, particularly in the vessels of the microcirculation.
A mammalian beta-hexosaminidase isoform that is comprized of hexosaminidase beta subunits. Deficiency of hexosaminidase B due to mutations in the gene encoding the hexosaminidase beta subunit is a case of SANDHOFF DISEASE.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A mass spectrometric technique that is used for the analysis of a wide range of biomolecules, such as glycoalkaloids, glycoproteins, polysaccharides, and peptides. Positive and negative fast atom bombardment spectra are recorded on a mass spectrometer fitted with an atom gun with xenon as the customary beam. The mass spectra obtained contain molecular weight recognition as well as sequence information.
The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.
Cell surface proteins that bind cyclic AMP with high affinity and trigger intracellular changes which influence the behavior of cells. The best characterized cyclic AMP receptors are those of the slime mold Dictyostelium discoideum. The transcription regulator CYCLIC AMP RECEPTOR PROTEIN of prokaryotes is not included nor are the eukaryotic cytoplasmic cyclic AMP receptor proteins which are the regulatory subunits of CYCLIC AMP-DEPENDENT PROTEIN KINASES.
Changes in the amounts of various chemicals (neurotransmitters, receptors, enzymes, and other metabolites) specific to the area of the central nervous system contained within the head. These are monitored over time, during sensory stimulation, or under different disease states.
Neutral glycosphingolipids that contain a monosaccharide, normally glucose or galactose, in 1-ortho-beta-glycosidic linkage with the primary alcohol of an N-acyl sphingoid (ceramide). In plants the monosaccharide is normally glucose and the sphingoid usually phytosphingosine. In animals, the monosaccharide is usually galactose, though this may vary with the tissue and the sphingoid is usually sphingosine or dihydrosphingosine. (From Oxford Dictionary of Biochemistry and Molecular Biology, 1st ed)
An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.
Members of the class of neutral glycosphingolipids. They are the basic units of SPHINGOLIPIDS. They are sphingoids attached via their amino groups to a long chain fatty acyl group. They abnormally accumulate in FABRY DISEASE.
The characteristic 3-dimensional shape of a carbohydrate.
The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.
The rate dynamics in chemical or physical systems.
Proteins found in any species of bacterium.
An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.
A DNA-directed RNA polymerase found in BACTERIA. It is a holoenzyme that consists of multiple subunits including sigma factor 54.
A basic-leucine zipper transcription factor that is closely related to C-FOS PROTEINS. It forms heterodimeric complexes with C-JUN PROTEINS to regulate GENE transcription.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
Domesticated bovine animals of the genus Bos, usually kept on a farm or ranch and used for the production of meat or dairy products or for heavy labor.
Ubiquitous, inducible, nuclear transcriptional activator that binds to enhancer elements in many different cell types and is activated by pathogenic stimuli. The NF-kappa B complex is a heterodimer composed of two DNA-binding subunits: NF-kappa B1 and relA.
An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)
The introduction of a phosphoryl group into a compound through the formation of an ester bond between the compound and a phosphorus moiety.
Proteins which maintain the transcriptional quiescence of specific GENES or OPERONS. Classical repressor proteins are DNA-binding proteins that are normally bound to the OPERATOR REGION of an operon, or the ENHANCER SEQUENCES of a gene until a signal occurs that causes their release.
A class of membrane lipids that have a polar head and two nonpolar tails. They are composed of one molecule of the long-chain amino alcohol sphingosine (4-sphingenine) or one of its derivatives, one molecule of a long-chain acid, a polar head alcohol and sometimes phosphoric acid in diester linkage at the polar head group. (Lehninger et al, Principles of Biochemistry, 2nd ed)
Proteins prepared by recombinant DNA technology.
The process of cleaving a chemical compound by the addition of a molecule of water.
Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.
Any of the processes by which cytoplasmic or intercellular factors influence the differential control of gene action in bacteria.
A subgroup of mitogen-activated protein kinases that activate TRANSCRIPTION FACTOR AP-1 via the phosphorylation of C-JUN PROTEINS. They are components of intracellular signaling pathways that regulate CELL PROLIFERATION; APOPTOSIS; and CELL DIFFERENTIATION.
A glycosidase that hydrolyzes a glucosylceramide to yield free ceramide plus glucose. Deficiency of this enzyme leads to abnormally high concentrations of glucosylceramide in the brain in GAUCHER DISEASE. EC 3.2.1.45.
Member of the serpin family of proteins. It inhibits both the tissue-type and urokinase-type plasminogen activators.
A superfamily of PROTEIN-SERINE-THREONINE KINASES that are activated by diverse stimuli via protein kinase cascades. They are the final components of the cascades, activated by phosphorylation by MITOGEN-ACTIVATED PROTEIN KINASE KINASES, which in turn are activated by mitogen-activated protein kinase kinase kinases (MAP KINASE KINASE KINASES).
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
Cells grown in vitro from neoplastic tissue. If they can be established as a TUMOR CELL LINE, they can be propagated in cell culture indefinitely.
Retrovirus-associated DNA sequences (jun) originally isolated from the avian sarcoma virus 17 (ASV 17). The proto-oncogene jun (c-jun) codes for a nuclear protein which is involved in growth-related transcriptional control. Insertion of c-jun into ASV-17 or the constitutive expression of the c-jun protein produces tumorgenicity. The human c-jun gene is located at 1p31-32 on the short arm of chromosome 1.
A group of enzymes that catalyzes the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-galactosides. Deficiency of beta-Galactosidase A1 may cause GANGLIOSIDOSIS, GM1.
The relationship between the chemical structure of a compound and its biological or pharmacological activity. Compounds are often classed together because they have structural characteristics in common including shape, size, stereochemical arrangement, and distribution of functional groups.
Proteins obtained from the species SACCHAROMYCES CEREVISIAE. The function of specific proteins from this organism are the subject of intense scientific interest and have been used to derive basic understanding of the functioning similar proteins in higher eukaryotes.
Proteins found in any species of fungus.
An electrophoretic technique for assaying the binding of one compound to another. Typically one compound is labeled to follow its mobility during electrophoresis. If the labeled compound is bound by the other compound, then the mobility of the labeled compound through the electrophoretic medium will be retarded.
The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
Important modulators of the activity of plasminogen activators. The inhibitors belong to the serpin family of proteins and inhibit both the tissue-type and urokinase-type plasminogen activators.
An aldohexose that occurs naturally in the D-form in lactose, cerebrosides, gangliosides, and mucoproteins. Deficiency of galactosyl-1-phosphate uridyltransferase (GALACTOSE-1-PHOSPHATE URIDYL-TRANSFERASE DEFICIENCY DISEASE) causes an error in galactose metabolism called GALACTOSEMIA, resulting in elevations of galactose in the blood.
An enzyme that hydrolyzes galactose from ceramide monohexosides. Deficiency of this enzyme may cause globoid cell leukodystrophy (LEUKODYSTROPHY, GLOBOID CELL). EC 3.2.1.46.
Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.
Cell surface proteins that bind signalling molecules external to the cell with high affinity and convert this extracellular event into one or more intracellular signals that alter the behavior of the target cell (From Alberts, Molecular Biology of the Cell, 2nd ed, pp693-5). Cell surface receptors, unlike enzymes, do not chemically alter their ligands.
Artificial, single or multilaminar vesicles (made from lecithins or other lipids) that are used for the delivery of a variety of biological molecules or molecular complexes to cells, for example, drug delivery and gene transfer. They are also used to study membranes and membrane proteins.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.
Proteins obtained from ESCHERICHIA COLI.
A class of morphologically heterogeneous cytoplasmic particles in animal and plant tissues characterized by their content of hydrolytic enzymes and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured. Such rupture is supposed to be under metabolic (hormonal) control. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.
A method for determining the sequence specificity of DNA-binding proteins. DNA footprinting utilizes a DNA damaging agent (either a chemical reagent or a nuclease) which cleaves DNA at every base pair. DNA cleavage is inhibited where the ligand binds to DNA. (from Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
In bacteria, a group of metabolically related genes, with a common promoter, whose transcription into a single polycistronic MESSENGER RNA is under the control of an OPERATOR REGION.
Recombinant proteins produced by the GENETIC TRANSLATION of fused genes formed by the combination of NUCLEIC ACID REGULATORY SEQUENCES of one or more genes with the protein coding sequences of one or more genes.
An ENTEROTOXIN from VIBRIO CHOLERAE. It consists of two major protomers, the heavy (H) or A subunit and the B protomer which consists of 5 light (L) or B subunits. The catalytic A subunit is proteolytically cleaved into fragments A1 and A2. The A1 fragment is a MONO(ADP-RIBOSE) TRANSFERASE. The B protomer binds cholera toxin to intestinal epithelial cells, and facilitates the uptake of the A1 fragment. The A1 catalyzed transfer of ADP-RIBOSE to the alpha subunits of heterotrimeric G PROTEINS activates the production of CYCLIC AMP. Increased levels of cyclic AMP are thought to modulate release of fluid and electrolytes from intestinal crypt cells.
An adenine nucleotide containing one phosphate group which is esterified to both the 3'- and 5'-positions of the sugar moiety. It is a second messenger and a key intracellular regulator, functioning as a mediator of activity for a number of hormones, including epinephrine, glucagon, and ACTH.
Genes whose expression is easily detectable and therefore used to study promoter activity at many positions in a target genome. In recombinant DNA technology, these genes may be attached to a promoter region of interest.
Protein synthesized by CLOSTRIDIUM TETANI as a single chain of ~150 kDa with 35% sequence identity to BOTULINUM TOXIN that is cleaved to a light and a heavy chain that are linked by a single disulfide bond. Tetanolysin is the hemolytic and tetanospasmin is the neurotoxic principle. The toxin causes disruption of the inhibitory mechanisms of the CNS, thus permitting uncontrolled nervous activity, leading to fatal CONVULSIONS.
The lipid- and protein-containing, selectively permeable membrane that surrounds the cytoplasm in prokaryotic and eukaryotic cells.
A tumor necrosis factor receptor family member that is specific for RANK LIGAND and plays a role in bone homeostasis by regulating osteoclastogenesis. It is also expressed on DENDRITIC CELLS where it plays a role in regulating dendritic cell survival. Signaling by the activated receptor occurs through its association with TNF RECEPTOR-ASSOCIATED FACTORS.
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
A phorbol ester found in CROTON OIL with very effective tumor promoting activity. It stimulates the synthesis of both DNA and RNA.
Cis-acting DNA sequences which can increase transcription of genes. Enhancers can usually function in either orientation and at various distances from a promoter.
The largest class of organic compounds, including STARCH; GLYCOGEN; CELLULOSE; POLYSACCHARIDES; and simple MONOSACCHARIDES. Carbohydrates are composed of carbon, hydrogen, and oxygen in a ratio of Cn(H2O)n.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
The first continuously cultured human malignant CELL LINE, derived from the cervical carcinoma of Henrietta Lacks. These cells are used for VIRUS CULTIVATION and antitumor drug screening assays.
Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.
Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.
Enzymes that catalyze DNA template-directed extension of the 3'-end of an RNA strand one nucleotide at a time. They can initiate a chain de novo. In eukaryotes, three forms of the enzyme have been distinguished on the basis of sensitivity to alpha-amanitin, and the type of RNA synthesized. (From Enzyme Nomenclature, 1992).
Carbohydrates consisting of between two (DISACCHARIDES) and ten MONOSACCHARIDES connected by either an alpha- or beta-glycosidic link. They are found throughout nature in both the free and bound form.
A cell line derived from cultured tumor cells.
Electrophoresis in which a polyacrylamide gel is used as the diffusion medium.
Genes which regulate or circumscribe the activity of other genes; specifically, genes which code for PROTEINS or RNAs which have GENE EXPRESSION REGULATION functions.
Lipids, predominantly phospholipids, cholesterol and small amounts of glycolipids found in membranes including cellular and intracellular membranes. These lipids may be arranged in bilayers in the membranes with integral proteins between the layers and peripheral proteins attached to the outside. Membrane lipids are required for active transport, several enzymatic activities and membrane formation.
A characteristic feature of enzyme activity in relation to the kind of substrate on which the enzyme or catalytic molecule reacts.
The relationship between the dose of an administered drug and the response of the organism to the drug.
Elements of limited time intervals, contributing to particular results or situations.
A positive regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins.
The fission of a CELL. It includes CYTOKINESIS, when the CYTOPLASM of a cell is divided, and CELL NUCLEUS DIVISION.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in fungi.
An amino alcohol with a long unsaturated hydrocarbon chain. Sphingosine and its derivative sphinganine are the major bases of the sphingolipids in mammals. (Dorland, 28th ed)
Separation technique in which the stationary phase consists of ion exchange resins. The resins contain loosely held small ions that easily exchange places with other small ions of like charge present in solutions washed over the resins.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
The genetic unit consisting of three structural genes, an operator and a regulatory gene. The regulatory gene controls the synthesis of the three structural genes: BETA-GALACTOSIDASE and beta-galactoside permease (involved with the metabolism of lactose), and beta-thiogalactoside acetyltransferase.
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
The N-acetyl derivative of galactosamine.
The functional hereditary units of BACTERIA.
Progressive restriction of the developmental potential and increasing specialization of function that leads to the formation of specialized cells, tissues, and organs.
A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in enzyme synthesis.
A variant of the GUILLAIN-BARRE SYNDROME characterized by the acute onset of oculomotor dysfunction, ataxia, and loss of deep tendon reflexes with relative sparing of strength in the extremities and trunk. The ataxia is produced by peripheral sensory nerve dysfunction and not by cerebellar injury. Facial weakness and sensory loss may also occur. The process is mediated by autoantibodies directed against a component of myelin found in peripheral nerves. (Adams et al., Principles of Neurology, 6th ed, p1313; Neurology 1987 Sep;37(9):1493-8)
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
Compounds or agents that combine with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction.
Cerebrosides which contain as their polar head group a glucose moiety bound in glycosidic linkage to the hydroxyl group of ceramides. Their accumulation in tissue, due to a defect in beta-glucosidase, is the cause of Gaucher's disease.
Enzymes that catalyze the hydrolysis of N-acylhexosamine residues in N-acylhexosamides. Hexosaminidases also act on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES.
Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.
Nucleotide sequences, usually upstream, which are recognized by specific regulatory transcription factors, thereby causing gene response to various regulatory agents. These elements may be found in both promoter and enhancer regions.
Precursor of plasmin (FIBRINOLYSIN). It is a single-chain beta-globulin of molecular weight 80-90,000 found mostly in association with fibrinogen in plasma; plasminogen activators change it to fibrinolysin. It is used in wound debriding and has been investigated as a thrombolytic agent.
Nucleic acid sequences involved in regulating the expression of genes.
An analytical method used in determining the identity of a chemical based on its mass using mass analyzers/mass spectrometers.
The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.
A negative regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins.
Glycosphingolipids which contain as their polar head group a trisaccharide (galactose-galactose-glucose) moiety bound in glycosidic linkage to the hydroxyl group of ceramide. Their accumulation in tissue, due to a defect in ceramide trihexosidase, is the cause of angiokeratoma corporis diffusum (FABRY DISEASE).
The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.
An intracellular signaling system involving the MAP kinase cascades (three-membered protein kinase cascades). Various upstream activators, which act in response to extracellular stimuli, trigger the cascades by activating the first member of a cascade, MAP KINASE KINASE KINASES; (MAPKKKs). Activated MAPKKKs phosphorylate MITOGEN-ACTIVATED PROTEIN KINASE KINASES which in turn phosphorylate the MITOGEN-ACTIVATED PROTEIN KINASES; (MAPKs). The MAPKs then act on various downstream targets to affect gene expression. In mammals, there are several distinct MAP kinase pathways including the ERK (extracellular signal-regulated kinase) pathway, the SAPK/JNK (stress-activated protein kinase/c-jun kinase) pathway, and the p38 kinase pathway. There is some sharing of components among the pathways depending on which stimulus originates activation of the cascade.
Transport proteins that carry specific substances in the blood or across cell membranes.
A product of the lysis of plasminogen (profibrinolysin) by PLASMINOGEN activators. It is composed of two polypeptide chains, light (B) and heavy (A), with a molecular weight of 75,000. It is the major proteolytic enzyme involved in blood clot retraction or the lysis of fibrin and quickly inactivated by antiplasmins.
1990). "The complete amino-acid sequences of human ganglioside GM2 activator protein and cerebroside sulfate activator protein ... GM2 ganglioside activator also known as GM2A is a protein which in humans is encoded by the GM2A gene. The protein encoded by ... Hirabayashi Y, Li YT, Li SC (1983). "The protein activator specific for the enzymic hydrolysis of GM2 ganglioside in normal ... Yadao F, Hechtman P, Kaplan F (1997). "Formation of a ternary complex between GM2 activator protein, GM2 ganglioside and ...
This enzyme, combined with the GM2 activator protein, is responsible for the breakdown of ganglioside GM2 within the lysosome. ... Hexosaminidase A and the cofactor GM2 activator protein catalyze the degradation of the GM2 gangliosides and other molecules ... The loop is absent in the beta subunit, but it serves as an ideal structure for the binding of the GM2 activator protein (GM2AP ... People with Tay-Sachs disease are unable to remove the GalNAc residue from the GM2 ganglioside, and as a result, they end up ...
Two of them are subunits of hexosaminidase A; the third is a small glycolipid transport protein, the GM2 activator protein ( ... Deficiency in any one of these proteins leads to ganglioside storage, primarily in the lysosomes of neurons. Tay-Sachs disease ... The hydrolysis of GM2-ganglioside requires three proteins. ... Enzymes are protein catalysts for chemical reactions; as ... The mutation disrupts the activity of the enzyme, which results in the buildup of the molecule GM2 ganglioside within cells, ...
The GM2 activator protein transports GM2 gangliosides and presents the lipids to hexosaminidase, so a functional hexosaminidase ... Beta-hexosaminidase and the cofactor GM2 activator protein catalyze the degradation of the GM2 gangliosides and other molecules ... serves as an ideal structure for the binding of the GM2 activator protein (GM2AP), and arginine is essential for binding the N- ... residue from GM2 gangliosides. A Michaelis complex consisting of a glutamate residue, a GalNAc residue on the GM2 ganglioside, ...
... sphingolipid activator protein-1 (SAP-1), sulfatide activator protein, GM1 ganglioside activator, dispersin, and nonspecific. ... 1990). "The complete amino-acid sequences of human ganglioside GM2 activator protein and cerebroside sulfate activator protein ... Ponting CP (1994). "Acid sphingomyelinase possesses a domain homologous to its activator proteins: saposins B and D". Protein ... The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. ...
... one of which was an activator protein. Disease caused by a mutation that disables this protein was termed AB variant. In 1992, ... As a result, gangliosides accumulate in the central nervous system until they interfere with normal biological processes. ... The GM2A gene provides instructions for making a protein called the GM2 activator. This protein is required for the normal ... GM2A is expressed in many tissues, and the GM2 activator protein has been reported to have other cellular functions. Because AB ...
... together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules ... and reduced the GM2 ganglioside storage in the parenchyma. HEXB has been found to interact with HEXA and ganglioside. GRCh38: ... characterized by the accumulation of GM2 ganglioside. Genetic defects in HEXB can result in the accumulation of GM2 ganglioside ... Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative ...
Hexosaminidase A and the cofactor GM2 activator protein catalyze the degradation of the GM2 gangliosides and other molecules ... This enzyme, combined with the GM2 activator protein, is responsible for the breakdown of ganglioside GM2 within the lysosome. ... The loop is absent in the beta subunit, but it serves as an ideal structure for the binding of the GM2 activator protein (GM2AP ... protein heterodimerization activity. • hydrolase activity, hydrolyzing O-glycosyl compounds. • hydrolase activity. • hydrolase ...
Ganglioside GM2 activator protein Sphingolipidoses Structures of GM1, GM2, GM3 gangliosides Guetta E, Peleg L (2008). "Rapid ... GM2 is a type of ganglioside. G refers to ganglioside, the M is for monosialic (as in it has one sialic acid), and 2 refers to ... Ganglioside+GM2 at the US National Library of Medicine Medical Subject Headings (MeSH). ... the fact that it was the second monosialic ganglioside discovered. It is associated with GM2 gangliosidoses such as Tay-Sachs ...
... such as YceI protein domain Ganglioside GM2 activator proteins CRAL-TRIO domain (α-Tocopherol and phosphatidylinositol sec14p ... Some proteins, such as G-proteins and certain protein kinases, interact with transmembrane proteins and the lipid bilayer ... Sterol carrier proteins Phosphatidylinositol transfer proteins and STAR domains Oxysterol-binding protein These proteins are ... Glycolipid transfer proteins Lipocalins including retinol binding proteins and fatty acid-binding proteins Polyisoprenoid- ...
The GM2A gene provides instructions for making a protein called the GM2 activator. This protein is a cofactor that is required ... Gangliosides are made and biodegraded rapidly in early life as the brain develops. Except in some rare, late-onset forms, the ... GM2 (ganglioside) Mahuran DJ (1999-10-08). "Biochemical consequences of mutations causing the GM2 gangliosidoses". Biochimica ... This enzyme catalyzes the biodegradation of fatty acid derivatives known as gangliosides. The diseases are better known by ...
Alternatively to the protein targets, LSDs may be classified by the type of protein that is deficient and is causing buildup. ... chronic GM2 gangliosidosis AB variant Activator deficiency Sandhoff disease Infantile Juvenile Adult onset Tay-Sachs Juvenile ... Sphingolipidoses Ceramidase Farber disease Krabbe disease Infantile onset Late onset Galactosialidosis Gangliosides: ... Lysosomes break down this unwanted matter by enzymes, highly specialized proteins essential for survival. Lysosomal disorders ...
Perilipin 1A is a key protein regulator of lipolysis in adipose tissue. This lipid droplet-associated protein, when deactivated ... The regulation of this process involves interactions between insulin receptors and gangliosides present in the neuronal cell ... will prevent the interaction of lipases with triglycerides in the lipid droplet and grasp the ATGL co-activator, comparative ... Fat-specific protein 27 (FSP-27) (a.k.a. CIDEC) is also a negative regulator of lipolysis. FSP-27 expression is negatively ...
C reactive protein, a protein made in the liver generally increases with inflammation, and may be high in autoimmune disease. ... Infectious agents are considered T cell activators, a step needed for activation of autoimmune diseases. These mechanisms are ... jejuni can result in the production of antibodies that also react to a lesser degree with gangliosides of myelin sheath ... A test used to measure levels of a protein group of the immune system called complement within blood. If complement is found in ...
These include secretory proteins in prokaryotes and eukaryotes and also proteins that are intended to be incorporated in ... The name is based on the use of an enzyme activator (EA) as part of the detection. (2009) Eastern blotting has most recently ... Cholera toxin B subunit (which binds to gangliosides), concanavalin A (which detects mannose-containing glycans) and ... The oxidized protein is then treated with a complex mixture, generating a new conjugate on the membrane. The membrane is then ...
However, in order for this reaction to be carried out, a sphingolipid activator protein such as saposin B must be present. ... When sulfatide and gangliosides are present, the proliferation or production of Natural Killer-T cells that produce cytokines ... ApoE is a protein that is involved in the transport of many lipids, including cholesterol, and thus, regulates how much ... The vaccinia virus has been shown to be able to bind to sulfatide through the L5 and A27 membrane proteins on the virus. It has ...
GM2 ganglioside activator GNPDA1: Glucosamine-6-phosphate isomerase 1 GPBP1: Vasculin HEXB: hexosaminidase B (beta polypeptide ... encoding protein FAM114A2 NREP: Neuronal regeneration related protein FAM172A: encoding protein UPF0528 protein FAM172A CPLANE1 ... encoding protein Ankyrin repeat domain 31 APBB3: encoding protein Amyloid beta A4 precursor protein-binding family B member 3 ... Protein Red IRX1: Iroquois-class homeodomain protein (human) LARP1: La-related protein 1 LMAN2: Lectin mannose binding 2 LNCR3 ...
C reactive protein[edit]. C reactive protein, a protein made in the liver generally increases with inflammation, and may be ... jejuni can result in the production of antibodies that also react to a lesser degree with gangliosides of myelin sheath ... Infectious agents are considered T cell activators, a step needed for activation of autoimmune diseases. These mechanisms are ... The human immune system typically produces both T cells and B cells that are capable of being reactive with self-protein, but ...
Perilipin 1A is a key protein regulator of lipolysis in adipose tissue. This lipid droplet-associated protein, when deactivated ... will prevent the interaction of lipases with triglycerides in the lipid droplet and grasp the ATGL co-activator, comparative ... The regulation of this process involves interactions between insulin receptors and gangliosides present in the neuronal cell ... These substrates activate phosphoinositide 3-kinases (PI-3K) which then phosphorylate protein kinase B (PKB) (a.k.a. Akt). PKB ...
... encoding protein Tonsoku-like, DNA repair protein TPA: tissue plasminogen activator TRMT12: tRNA methyltransferase 12 homolog ... Fibrinogen-like protein 1 GDAP1: ganglioside-induced differentiation-associated protein 1 GDF6: growth differentiation factor 6 ... protein Zinc finger protein 395 ZNF517 encoding protein Zinc finger protein 517 ZNF696 encoding protein Zinc finger protein 696 ... ZNF703: zinc finger protein 703 ZNF706: zinc finger protein 706 ZNF707: encoding protein Zinc finger protein 707 The following ...
... activator protein MeSH D08.211.790.500 - saposins MeSH D08.211.840.300 - formyltetrahydrofolates MeSH D08.211.840.300.500 - ... ganglioside galactosyltransferase MeSH D08.811.913.400.450.400.500 - lactose synthase MeSH D08.811.913.400.450.400.500.100 - n- ... proto-oncogene proteins c-cbl MeSH D08.811.464.938.750.562 - proto-oncogene proteins c-mdm2 MeSH D08.811.464.938.750.750 - skp ... gtp-binding protein alpha subunits MeSH D08.811.277.040.330.300.200.100.100 - gtp-binding protein alpha subunits, g12-g13 MeSH ...
... fusion protein G-CSF - gabapentin - Gail model - gallium nitrate - gallium scan - gamma knife - gamma ray - ganciclovir - ... tissue plasminogen activator - TLK286 - TM - Transplacental carcinogenesis - TNF - TNFerade - TNM staging system - TNP-470 - ... ganglioside - gastrectomy - gastric atrophy - gastrinoma - gastroenterologist - gastroesophageal junction - gastroesophageal ... DTGM fusion protein - ductal carcinoma - ductal carcinoma in situ - ductal lavage - Dukes' classification - dumping syndrome - ...
Levels of protein C, free and total protein S, factor VIII, antithrombin, plasminogen, tissue plasminogen activator (TPA) and ... In APS there are also antibodies binding to Protein S, which is a co-factor of protein C. Thus, anti-protein S antibodies ... Protein C deficiency/Activated protein C resistance/Protein S deficiency/Factor V Leiden ... Anti-ApoH and a subset of anti-cardiolipin antibodies bind to ApoH, which in turn inhibits Protein C, a glycoprotein with ...
Ganglioside GM2 Activator - Proteins. Product filter Ganglioside GM2 Activator molecule 4-1BB Ligand 4-1BB Receptor 6- ... Active protein Native protein Recombinant protein Recombinant, Animal-Free manufactured Synthetic protein ... Cysteine-Rich Secretory Protein 1 Cysteine-Rich Secretory Protein 2 Cysteine-Rich Secretory Protein 3 Cytokine-Like Protein 1 ... Bone Morphogenetic Protein 7 Bone Morphogenetic Protein-2 Bone Morphogenetic Protein-4 Brain Fatty Acid Binding Protein Brain- ...
Recombinant human Ganglioside GM2 activator protein \ PE023754h for more molecular products just contact us ... Recombinant human Ganglioside GM2 activator protein. Related products : Recombinant human Ganglioside GM2 activator protein ... WP1239: Cytoplasmic Ribosomal Proteins. WP1256: NLR proteins. WP1294: NLR proteins. WP1360: NLR proteins. WP1371: G Protein ... Recombinant human Ganglioside GM2 activator protein / Product Detail : PE023754h Recombinant human Ganglioside GM2 activator ...
Human GM2AP recombinant protein expressed in CHO cells [PRO-50074];. Mouse Anti-GM2AP (Ganglioside GM2 activator isoform 1) ... Ganglioside GM2 activator isoform 1. Gene symbol: GM2AP. Organism: Homo sapiens. GenBank accession: NM_000405.4. Protein ... Rabbit anti-GM2AP (Ganglioside GM2 activator isoform 1) polyclonal antibody €317,00. - €1.050,00. ... Rabbit anti-GM2AP (Ganglioside GM2 activator isoform 1) polyclonal antibody. €317,00. - €1.050,00. ...
Ganglioside Structure, Function and Biomedical Potential which was held at Parksville, Vancouver Island, B. C. , Canada on ... Activator Proteins for the Catabolism of Glycosphingolipids. Pages 213-226. Li, Y.-T. (et al.) ... Ganglioside Structure, Function, and Biomedical Potential. Editors. * Robert Ledeen Series Title. Advances in Experimental ... Immunological Expression of Gangliosides in Multiple Sclerosis and in a Demyelinating Model Disease in Rabbits ...
The GM2A gene provides instructions for making a protein called the GM2 ganglioside activator. Learn about this gene and ... The GM2A gene provides instructions for making a protein called the GM2 ganglioside activator. This protein is necessary for ... Within lysosomes, the activator protein binds to a fatty substance called GM2 ganglioside and presents it to beta- ... Some of these mutations change single protein building blocks (amino acids) in the GM2 ganglioside activator. Other mutations ...
8. Ganglioside GM2 activator. General function:. Involved in sphingolipid activator protein activity. Specific function:. Binds ... The carbohydrate portion of the ganglioside GM1 is the site of attachment of cholera toxin, the protein secreted by Vibrio ... Ganglioside GD2 carries a net-negative charge at pH 7.0 and is acidic. Gangliosides can amount to 6% of the weight of lipids ... Ganglioside GD2 (d18:1/18:0). Description. Ganglioside GD2 (d18:1/18:0) is a glycosphingolipid (ceramide and oligosaccharide)or ...
Ganglioside GM2 activator. General function:. Involved in sphingolipid activator protein activity. Specific function:. Binds ... Ganglioside GM2 (d18:0/20:0). Description. Ganglioside GM2 (d18:0/20:0) is a ganglioside. A ganglioside is a compound composed ... G(M2) Ganglioside accumulates due to a deficiency of hexosaminidase A or B (beta-N-acetylhexosaminidase), or GM2 activator ... The carbohydrate portion of the ganglioside GM1 is the site of attachment of cholera toxin, the protein secreted by Vibrio ...
9. Ganglioside GM2 activator. General function:. Involved in sphingolipid activator protein activity. Specific function:. Binds ... The carbohydrate portion of the ganglioside GM1 is the site of attachment of cholera toxin, the protein secreted by Vibrio ... Ganglioside GA2 carries a net-negative charge at pH 7.0 and is acidic. Gangliosides can amount to 6% of the weight of lipids ... Ganglioside GA2 (d18:1/25:0). Description. Ganglioside GA2 (d18:1/25:0) is a glycosphingolipid (ceramide and oligosaccharide)or ...
The GM2A gene provides instructions for making a protein called the GM2 ganglioside activator. This protein is required for the ... Within lysosomes, the activator protein binds to a fatty substance called GM2 ganglioside and presents it to beta- ... Beta-hexosaminidase A and the GM2 ganglioside activator protein work together in lysosomes. , which are structures in cells ... Mutations in the GM2A gene disrupt the activity of the GM2 ganglioside activator, which prevents beta-hexosaminidase A from ...
Ganglioside GM2 activator protein Sphingolipidoses Structures of GM1, GM2, GM3 gangliosides Guetta E, Peleg L (2008). "Rapid ... GM2 is a type of ganglioside. G refers to ganglioside, the M is for monosialic (as in it has one sialic acid), and 2 refers to ... Ganglioside+GM2 at the US National Library of Medicine Medical Subject Headings (MeSH). ... the fact that it was the second monosialic ganglioside discovered. It is associated with GM2 gangliosidoses such as Tay-Sachs ...
The β-subunit together with the GM2 activator protein catabolize ganglioside GM2. This enzyme deficiency results in GM2 ...
1990). "The complete amino-acid sequences of human ganglioside GM2 activator protein and cerebroside sulfate activator protein ... GM2 ganglioside activator also known as GM2A is a protein which in humans is encoded by the GM2A gene. The protein encoded by ... Hirabayashi Y, Li YT, Li SC (1983). "The protein activator specific for the enzymic hydrolysis of GM2 ganglioside in normal ... Yadao F, Hechtman P, Kaplan F (1997). "Formation of a ternary complex between GM2 activator protein, GM2 ganglioside and ...
Previous Document: Stimulation of GM3 ganglioside sialidase activity by an activator protein in patients with mucolipid.... ... 25214974 - Expression of heat shock protein 70 in lung tissues of acute paraquat poisoned rats and.... 12963104 - A rat model ...
Activator protein for sulphatide and GM1-ganglioside hydrolases MARTYN N. BANKS, CAROLE L. GUTTERIDGE, COLIN H. WYNN ... Neutral proteinases involved in muscle protein breakdown R. HEATH, R. W. LEWIS, J. KAY, G. R. NEWMAN, B. JASANI, N. YOSHIMURA, ... Protein degradation in the lysosome H. GLAUMANN, J. AHLBERG, A. BERKENSTAM, M. FALK, F. HENELL ... Autophagy and protein degradation in isolated rat hepatocytes PER O. SEGLEN, PAUL B. GORDON, HELGE TOLLESHAUG, HENRIK HØYVIK ...
Immunocytochemical localization of sphingolipid activator protein-1, the sulfatide/GM1 ganglioside activator, to lysosomes in ... Identification of tudor repeat associator with PCTAIRE 2 (Trap). A novel protein that interacts with the N-terminal domain of ... Periodically fluctuating protein kinases phosphorylate CLOCK, the putative target in the suprachiasmatic nucleus. ... Circadian expression of hnRNP U, a nuclear multi-potent regulatory protein, in the murine suprachiasmatic nucleus. ...
Choleragen activation of solubilized adenylate cyclase: requirement for GTP and protein activator for demonstration of ... Gangliosides. Purified gangliosides were obtained from Matreya, LLC (Pleasant Gap, PA) or were purified from mouse peritoneal ... Peritoneal macrophage ganglioside expression. Although LT-IIb(T13I) binds preferentially to NeuGc gangliosides, the mutant ... Purification of total gangliosides from murine peritoneal macrophages. Gangliosides were isolated from peritoneal macrophages ...
Gangliosides are glycosphingolipids that contain sialic acid ( N-acetyl- or N-glycolylneuraminic acid). They have elicited much ... Li, Y.-T., and Li, S.-Ch., 1979, The activator proteins for enzymic degradation of GM1 and GM2 gangliosides, Glycoconjugates, ... Evidence for the presence of two separate protein activators for the enzymic hydrolysis of GM, and GM2 gangliosides, J. Biol. ... Irwin, L. N., Chen, H. H., and Barraco, R. A., 1976, Ganglioside, protein hexose and sialic acid changes in the trisected optic ...
Hexosaminidase A and the cofactor GM2 activator protein catalyze the degradation of the GM2 gangliosides and other molecules ... This enzyme, combined with the GM2 activator protein, is responsible for the breakdown of ganglioside GM2 within the lysosome. ... The loop is absent in the beta subunit, but it serves as an ideal structure for the binding of the GM2 activator protein (GM2AP ... protein heterodimerization activity. • hydrolase activity, hydrolyzing O-glycosyl compounds. • hydrolase activity. • hydrolase ...
Protein Coding), Hexosaminidase Subunit Alpha, including: function, proteins, disorders, pathways, orthologs, and expression. ... This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other ... This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other ... Protein Symbol:. P06865-HEXA_HUMAN. Recommended name:. Beta-hexosaminidase subunit alpha. Protein Accession:. P06865. Secondary ...
Hexosaminidase A and the cofactor GM2 activator protein catalyze the degradation of the GM2 gangliosides and other molecules ... This enzyme, combined with the GM2 activator protein, is responsible for the breakdown of ganglioside GM2 within the lysosome. ... The loop is absent in the beta subunit, but it serves as an ideal structure for the binding of the GM2 activator protein (GM2AP ... From ganglioside. Beta-galactosidase. Hexosaminidase A. Neuraminidase. Glucocerebrosidase. From globoside. Hexosaminidase B. ...
The GM2 gangliosidoses comprise Tay-Sachs and Sandhoff disease as well as the ultra-rare GM2 activator protein deficiency, ... The integrity of this triad, which cooperate to hydrolyse ganglioside GM2 in the lysosome, is an absolute requirement; and when ... and β-subunits of β-hexosaminidase and GM2 activator protein, respectively. ... Moreover, with its close relatives, Sandhoff disease and the exceptionally rare GM2 activator deficiency, Tay-Sachs often ...
... is required to hydrolyze GM2 ganglioside. A deficiency of either the alpha- or beta-subunit leads to a severe neurological ... Reported to Interact with the GM2 Activator Protein and Hydrolyze GM2 Ganglioside. *Incilay Sinici, Sayuri Yonekawa, +5 authors ... A sensitive fluorescence-based assay for monitoring GM2 ganglioside hydrolysis in live patient cells and their lysates.. *M. B ... In humans, beta-hexosaminidase A (alphabeta) is required to hydrolyze GM2 ganglioside. A deficiency of either the alpha- or ...
Degradation of Membrane-bound Ganglioside GM2 by β-Hexosaminidase A STIMULATION BY GM2 ACTIVATOR PROTEIN AND LYSOSOMAL LIPIDS. ... S281-E282-P283 in Segment I constitutes a flexible loop that binds a specific lipid binding protein named GM2 activator protein ... The efficiency of the protein purification procedure is summarized in Supplementary Material: Table S2. The purified protein ... Gb4-PA, GA2-PA and GM2-PA are the pyridylaminated oligosaccharides of globoside, ganglioside GA2 and ganglioside GM2, ...
... and lipid binding and transfer proteins (GM2 activator, saposins) were analyzed to identify the molecular and metabolic basis ... Studies on the biosynthesis of glycosphingolipids yielded the scheme of Combinatorial Ganglioside Biosynthesis involving ... Keywords: endocytosis of membrane lipids, lysosomal digestion, lipids regulate endolysosomal proteins, lipid storage diseases, ... of lipid storage in postmortem brains of patients with amaurotic idiocy led to the recognition of five lysosomal ganglioside ...
GM2-activator protein (GM2-AP) is a lipid transfer protein that has the ability to stimulate the enzymatic processing of ... Binds gangliosides and stimulates ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and ... Schroder M, Schnabel D, Suzuki K, Sandhoff K. A mutation in the gene of a glycolipid-binding protein (GM2 activator) that ... GM2GAB is characterized by GM2 gangliosides accumulation in the presence of both hexosaminidase A and B.[1] [2] [3] ...
University of Bonn scientists report they discovered why gangliosides accumulate in patients with hereditary storage diseases ... and sphinganine inhibit GM2 hydrolysis by β-hexosaminidase A assisted by GM2 activator protein, while anionic lipids, ceramide ... resulting in the ganglioside GM2 being stored in the lysosomes. Gangliosides lipids occur mainly in the ganglion cells of the ... Normally, the auxiliary protein GM2AP helps to catch and release the GM2 that sits on the shell of the vesicles. It can then be ...
... or GM2 activator protein, resulting in GANGLIOSIDOSES, heredity metabolic disorders that include TAY-SACHS DISEASE and SANDHOFF ... Ganglioside: A glycosphingolipid that accumulates due to a deficiency of hexosaminidase A or B (BETA-N-ACETYLHEXOSAMINIDASES), ... Ganglioside GM2; GM2, Ganglioside; Ganglioside, Tay-Sachs Disease; Tay Sachs Disease Ganglioside; Tay-Sachs Disease Ganglioside ... G(M2) Ganglioside (Ganglioside GM2). Subscribe to New Research on G(M2) Ganglioside ...
... reported to interact with the GM2 activator protein and hydrolyze GM2 ganglioside. PLOSone, in press. PMID: 23483939. PMCID: ... Optimization of scAAVIL-1ra In Vitro and In Vivo to Deliver High Levels of Therapeutic Protein for Treatment of Osteoarthritis ... Therapy Utilizing shRNA Knockdown and an Optimized Resistant Transgene for Rescue of Diseases Caused by Mis-folded Proteins. ...
Processing of sphingolipid activator proteins and the topology of lysosomal digestion. Acta Biochim. Pol. 45:373-384. ... With respect to lipid trafficking, cholesterol and gangliosides, including GM2 and GM3, have been shown to accumulate in mice ... Interaction of GM2 activator protein with glycosphingolipids. J. Biol. Chem. 272:2828-2833. ... The specificity of human N-acetyl-beta-D-hexosaminidases towards glycosphincolipids is determined by an activator protein. Adv ...
GM2 Ganglioside Activator. Protein Coding. 1711.82. Molecular basis known 57 Pathogenic 6 ... An important gene associated with Gm2-Gangliosidosis, Ab Variant is GM2A (GM2 Ganglioside Activator). The drugs Miglustat and 1 ... It is characterized by GM2 gangliosides accumulation in the presence of both normal hexosaminidase A and B. Wikipedia : 76 GM2- ... MalaCards based summary : Gm2-Gangliosidosis, Ab Variant, also known as hexosaminidase activator deficiency, is related to tay- ...
  • The protein encoded by this gene is a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme β-hexosaminidase A. β-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. (wikipedia.org)
  • Hexosaminidase A and the cofactor G M2 activator protein catalyze the degradation of the G M2 gangliosides and other molecules containing terminal N-acetyl hexosamines. (wikipedia.org)
  • This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. (genecards.org)
  • Only the isozyme A is responsible for the degradation of GM2 gangliosides in the presence of GM2A (PubMed:9694901, PubMed:8672428, PubMed:8123671). (genecards.org)
  • The physiological importance of human β- N -acetyl-D-hexosaminidase A (HsHex A, αβ heterdimer) and B (HsHexB, ββ homodimer) are linked to the degradation of glycoconjugates (such as GM2 ganglioside) [ 12 , 13 ]. (ijbs.com)
  • Binds gangliosides and stimulates ganglioside GM2 degradation. (proteopedia.org)
  • Subtypes include mutations of enzymes in the beta-n-acetylhexosaminidases system or g(m2) activator protein leading to disruption of normal degradation of gangliosides, a subclass of acidic glycosphingolipids. (icd10data.com)
  • Lysosomal beta-hexosaminidase A (Hex A) is essential for the degradation of G(M2) gangliosides in the central and peripheral nervous system. (ubc.ca)
  • Sphingolipidoses are a group of rare genetic disorders caused by a = deficiency in the lysosomal degradation or transport of sphingolipids = i.e. sphingomyelin, ceramide, neutral glycosphingo-lipids and = gangliosides. (springer.com)
  • Since most of the enzymes involved in the = degradation of sphingolipids require an activator protein for activity = in vivo, a deficiency of an activator protein gives rise to a storage = disease with clinical features similar to the disease caused by the = enzyme deficiency. (springer.com)
  • When added to the culture medium, the recombinant carbohydrate-free GM2-activator, carrying the hexahistidine tail, could be taken up efficiently and restored the degradation of ganglioside GM2 to normal rates in mutant fibroblasts with the AB variant of GM2-gangliosidosis, which is characterized by a genetic defect in the GM2-activator protein. (biochemj.org)
  • HEXA is the alpha subunit of the lysosomal enzyme beta-hexosaminidase which, combined with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules having N-acetyl hexosamines terminus. (prospecbio.com)
  • The result showed that the LCKD promoted the expression of glycosyltransferase genes involved in ganglioside synthesis and suppressed the expression of Gm2a, the gene encoding GM2 ganglioside activator protein, a lysosomal protein indispensable for ganglioside degradation. (nii.ac.jp)
  • While the conclusion drawn from these in vivo data is that peripheral nerve injury stimulates Neu3 activity, it is also possible that injury induces the synthesis of GM1 from precursor gangliosides or suppresses its degradation, resulting in a transient accumulation of GM1. (jneurosci.org)
  • Summary: Hexosaminidase A is the alpha subunit of the lysosomalenzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines.Beta-hexosaminidase is composed of two subunits, alpha and beta,which are encoded by separate genes. (silencinggenomes.org)
  • FUNCTION: Saposins are specific low-molecular mass non-enzymic proteins, they participate in the lysosomal degradation of sphingolipids, which takes place by the sequential action of specific hydrolases. (novoprolabs.com)
  • Gangliosides can amount to 6% of the weight of lipids from brain, but they are found at low levels in all animal tissues. (hmdb.ca)
  • Reconstitution of GM2 catabolism at liposomal surfaces carrying GM2 revealed that incorporation of lipids into the GM2 carrying membrane like cholesterol, SM, sphingosine, and sphinganine inhibit GM2 hydrolysis by β-hexosaminidase A assisted by GM2 activator protein, while anionic lipids, ceramide, fatty acids, lyso-phosphatidylcholine, and diacylglycerol stimulate GM2 catabolism. (genengnews.com)
  • Moreover, we could show that hydrolysis inhibiting lipids had also an inhibiting effect on the solubilization and mobilization of membrane-bound lipids by GM2 activator protein, while the stimulating lipids enhanced lipid mobilization. (genengnews.com)
  • Gangliosides lipids occur mainly in the ganglion cells of the nervous system. (genengnews.com)
  • Thus, the loading of endogenous and exogenous lipids and glycolipids onto CD1d is dependent on various small, soluble lipid transfer proteins present in the lysosome. (rupress.org)
  • CD1 molecules are nonpolymorphic MHC class I-like proteins that associate with β2-microglobulin and present lipids and glycolipids to the immune system. (rupress.org)
  • Induction of ferritin-H and -L gene expression may also limit iron catalyzed hydroxyl radical formation and consequent oxidative damage to lipids, proteins, and nucleic acids. (docme.ru)
  • The protein can extract target lipids from membranes, forming soluble protein-lipid complexes that are recognized by arylsulfatase A. The crystal structure of human saposin B reveals an unusual shell-like dimer consisting of a monolayer of alpha-helices enclosing a large hydrophobic cavity. (proteopedia.org)
  • Here, we aim at elucidating whether exogenously added gangliosides (i.e., cell surface lipids with a potential to modulate signaling pathways) could counteract fibronectin-mediated inhibition of OPC maturation. (jneurosci.org)
  • Thus, it is very likely that membrane lipids are involved in the regulation of subcellular transport, activity, and metabolism of AD related proteins. (biomedcentral.com)
  • GM2 belongs in a group of lysosomal disorders known as gangliosidosis, caused by the accumulation of lipids known as gangliosides. (animalabs.com)
  • GM2 gangliosidoses is a result of beta-hexosaminidase (Hex) deficiency, an enzyme that catalyzes the biodegradation of lipids gangliosides. (animalabs.com)
  • The avian egg contains vitamins, minerals and proteins (albumen and yolk), yolk lipids and calcium salts (eggshell) necessary for the development of the embryo. (biomedcentral.com)
  • Gangliosides are lipids, components of cellular membranes, and the ganglioside GM2, implicated in Tay-Sachs disease, is especially common in the nervous tissue of the brain. (silencinggenomes.org)
  • Experimental membrane binding affinities of peripheral proteins were reproduced in cases that did not involve a helix-coil transition, specific binding of lipids, or a predominantly electrostatic association. (biomedcentral.com)
  • The success of the implicit solvation model suggests that hydrophobic interactions are usually sufficient to determine the spatial position of a protein in the membrane, even when electrostatic interactions or specific binding of lipids are substantial. (biomedcentral.com)
  • Schepers U, Glombitza G, Lemm T, Hoffmann A, Chabas A, Ozand P, Sandhoff K. Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant. (medlineplus.gov)
  • G(M2) Ganglioside accumulates due to a deficiency of hexosaminidase A or B (beta-N-acetylhexosaminidase), or GM2 activator protein, resulting in Gangliosidoses. (hmdb.ca)
  • Moreover, with its close relatives, Sandhoff disease and the exceptionally rare GM2 activator deficiency, Tay-Sachs often masquerades as other neurological illnesses. (brightsurf.com)
  • The GM2 gangliosidoses comprise Tay-Sachs and Sandhoff disease as well as the ultra-rare GM2 activator protein deficiency, intimately linked biochemically, pathologically and clinically. (brightsurf.com)
  • A glycosphingolipid that accumulates due to a deficiency of hexosaminidase A or B (BETA-N-ACETYLHEXOSAMINIDASES), or GM2 activator protein, resulting in GANGLIOSIDOSES, heredity metabolic disorders that include TAY-SACHS DISEASE and SANDHOFF DISEASE. (curehunter.com)
  • Gm2-Gangliosidosis, Ab Variant, also known as hexosaminidase activator deficiency , is related to tay-sachs disease and gm2-gangliosidosis, b, b1, ab variant , and has symptoms including hyperacusis , seizures and abnormal pyramidal signs . (malacards.org)
  • Niemann-Pick disease type C is an exception in that = this complex (glycosphingo-) lipid storage disease is not caused by an = enzyme deficiency, but can be considered as a (glycosphingo-)lipid = trafficking defect caused by a deficiency of one of two proteins NPC1 or = NPC2. (springer.com)
  • Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene. (proteopedia.org)
  • Furthermore, it has long been recognized that certain lipidoses that affect the nervous system, such as Tay Sachs disease, are characterized by ganglioside accumulation within cells of the brain. (springer.com)
  • Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. (genecards.org)
  • GM2-gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. (proteopedia.org)
  • 57 The GM2-gangliosidoses are a group of disorders caused by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes, mainly of neuronal cells. (malacards.org)
  • A group of recessively inherited diseases characterized by the intralysosomal accumulation of g(m2) ganglioside in the neuronal cells. (icd10data.com)
  • This causes accumulation of G M2 ganglioside in neurons of affected patients with subsequent neuronal death, resulting in progressive neurologic degeneration. (prolekare.cz)
  • Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. (abnova.com)
  • these are prototypical lysosomal storage disorders resulting from the abnormal accumulation of G M2 -ganglioside (G M2 ). (researchwithrutgers.com)
  • buy generic viagra generic viagra lowest prices Hexosaminidase a (see beta-n-acetylhexosaminidase) is deficient, leading to the accumulation of gm2 ganglioside in neurons of the central nervous system and retina. (jeffbowers.net)
  • The GM2 activator protein, its roles as a co-factor in GM2 hydrolysis and as a general glycolipid transport protein. (medlineplus.gov)
  • whereas, mutations in the gene encoding the alpha subunit (HEXA, this gene) decrease the hydrolysis of G M2 gangliosides, which is the main cause of Tay-Sachs disease . (wikipedia.org)
  • A sensitive fluorescence-based assay for monitoring GM2 ganglioside hydrolysis in live patient cells and their lysates. (semanticscholar.org)
  • Saposin-B stimulates the hydrolysis of galacto-cerebroside sulfate by arylsulfatase A (EC 3.1.6.8), GM1 gangliosides by beta-galactosidase (EC 3.2.1.23) and globotriaosylceramide by alpha-galactosidase A (EC 3.2.1.22). (proteopedia.org)
  • Saposin-B stimulates the hydrolysis of galacto-cerebroside sulfate by arylsulfatase A, GM1 gangliosides by β-galactosidase and globotriaosylceramide by α-galactosidase A. Saposin-B forms a solubilizing complex with the substrates of the sphingolipid hydrolases. (tcdb.org)
  • Tay-Sachs disease, so called GM2 gangliosidosis, is a rare and severe autosomal recessive neurodegenerative disorder caused by dysfunction of hydrolysis of GM2 ganglioside in the brain. (51due.com)
  • It has been reported that saposin A (Sap A) and saposin C (Sap C) stimulate the hydrolysis of glucosylceramide and galactosylceramide, saposin B (Sap B) that of several sphingolipids including sulfatide and G-ganglioside, and saposin D (Sap D) that of sphingomyelin. (biosyn.com)
  • The GM2A gene provides instructions for making a protein called the GM2 ganglioside activator. (medlineplus.gov)
  • Mutations in the GM2A gene disrupt the activity of the GM2 ganglioside activator, which prevents beta-hexosaminidase A from breaking down GM2 ganglioside. (medlineplus.gov)
  • GM2 ganglioside activator also known as GM2A is a protein which in humans is encoded by the GM2A gene. (wikipedia.org)
  • GM2A is a lipid transfer protein that stimulates the enzymatic processing of gangliosides, and also T-cell activation through lipid presentation. (wikipedia.org)
  • Their manifestations result from defects in one of three genes: HEXA, HEXB and GM2A, which code for the α- and β-subunits of β-hexosaminidase and GM2 activator protein, respectively. (brightsurf.com)
  • An important gene associated with Gm2-Gangliosidosis, Ab Variant is GM2A (GM2 Ganglioside Activator). (malacards.org)
  • Although ganglioside levels were unchanged in mice on the LCKD, Gm2a expression was significantly down-regulated. (nii.ac.jp)
  • Further analyses suggested that the LCKD altered the expression levels of gangliosides in a limited area of central nervous system tissues susceptible to Gm2a. (nii.ac.jp)
  • Recombinant human Ganglioside GM2 activator protein Human samples 80 % of the research is conducted on human samples. (antibody-antibodies.com)
  • GENTAUR suppliers human normal cells, cell lines, RNA extracts and lots of antibodies and ELISA kits to Human proteins as well as Recombinant human Ganglioside GM2 activator protein. (antibody-antibodies.com)
  • PubMed ID 9216084)Gangliosides are glycosphingolipids. (hmdb.ca)
  • Gangliosides are more complex glycosphingolipids in which oligosaccharide chains containing N-acetylneuraminic acid (NeuNAc) are attached to a ceramide. (hmdb.ca)
  • French Canadians and the Cajun community of Louisiana have an occurrence similar to the Ashkenazi Jews.Gangliosides are glycosphingolipids. (hmdb.ca)
  • Gangliosides are glycosphingolipids. (hmdb.ca)
  • Gangliosides are glycosphingolipids that contain sialic acid ( N -acetyl- or N -glycolylneuraminic acid). (springer.com)
  • Studies on the biosynthesis of glycosphingolipids yielded the scheme of Combinatorial Ganglioside Biosynthesis involving promiscuous glycosyltransferases. (go.jp)
  • Gangliosides are ubiquitous membrane-associated glycosphingolipids containing at least one sialic acid. (beds.ac.uk)
  • The recombinant protein was purified from cell homogenates under denaturing conditions by metal-ion affinity chromatography in a single step and then was refolded. (biochemj.org)
  • and when one or other of the genes is dysfunctional, GM2 ganglioside accumulates progressively in tissues rich in this sphingolipid such as the brain. (brightsurf.com)
  • This is followed by activation of genes involved in metal ion regulation (metallothionein-I, metallothionein-III, ferritin-H, and ferritin-L) at 4 months of age just prior to end-stage disease, perhaps as an adaptive response to the mitochondrial destruction caused by the mutant protein. (docme.ru)
  • The products of all 3 genes are required for normal catabolism of the G M2 ganglioside substrate. (patient.info)
  • Commonly, LLSDs are caused by loss of function mutations in genes encoding lipid catabolic proteins, including enzymes, lipid activator proteins or lipid transporters. (biomedcentral.com)
  • Defects in the genes encoding for named proteins causes their improper function. (animalabs.com)
  • An extensive bioinformatic analysis on genes over-expressed in the uterus allowed us to identify novel eggshell proteins that contribute to the egg's natural defenses. (biomedcentral.com)
  • The 605 highly-expressed uterine transcripts correspond to 469 unique genes, which encode 437 different proteins. (biomedcentral.com)
  • The most over-represented GO terms are related to genes encoding ion transport proteins, which provide eggshell mineral precursors. (biomedcentral.com)
  • We have discovered a cache of about 600 functional genes and identified a large number of encoded proteins secreted into uterine fluid for fabrication of the eggshell and chemical protection of the egg. (biomedcentral.com)
  • Of the 56 up-regulated genes, 17 were direct target genes for transcription factors sterol regulatory element-binding protein (SREBP) 1 or SREBP2, which activate genes in the sterol biosynthesis pathway. (aspetjournals.org)
  • This protein is necessary for the normal function of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord (central nervous system). (medlineplus.gov)
  • Beta-hexosaminidase A and the GM2 ganglioside activator protein work together in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. (medlineplus.gov)
  • Within lysosomes, the activator protein binds to a fatty substance called GM2 ganglioside and presents it to beta-hexosaminidase A to be broken down. (medlineplus.gov)
  • Without the GM2 ganglioside activator, beta-hexosaminidase A is unable to break down GM2 ganglioside. (medlineplus.gov)
  • This protein is required for the normal function of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. (medlineplus.gov)
  • This protein binds molecules of ganglioside GM2, extracts them from membranes, and presents them to beta-hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3. (wikipedia.org)
  • [7] Hexosaminidase A is a heterodimer composed of an alpha subunit (this protein) and a beta subunit. (wikipedia.org)
  • Even though the alpha and beta subunits of hexosaminidase A can both cleave GalNAc residues, only the alpha subunit is able to hydrolyze G M2 gangliosides. (wikipedia.org)
  • The HEXA gene is a protein encoding gene that codes for the lysosomal enzyme beta-hexosaminidase. (wikipedia.org)
  • HEXA (Hexosaminidase Subunit Alpha) is a Protein Coding gene. (genecards.org)
  • In humans, beta-hexosaminidase A (alphabeta) is required to hydrolyze GM2 ganglioside. (semanticscholar.org)
  • Construction of a hybrid β-hexosaminidase subunit capable of forming stable homodimers that hydrolyze GM2 ganglioside in vivo. (semanticscholar.org)
  • It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 molecules from membranes and presents them in soluble form to beta-hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3. (proteopedia.org)
  • Tay-Sachs disease is a severe lysosomal disorder caused by mutations in the HexA gene coding for the α-subunit of lysosomal β-hexosaminidase A, which converts G M2 to G M3 ganglioside. (prolekare.cz)
  • Hexa −/− mice, depleted of β-hexosaminidase A, remain asymptomatic to 1 year of age, because they catabolise G M2 ganglioside via a lysosomal sialidase into glycolipid G A2 , which is further processed by β-hexosaminidase B to lactosyl-ceramide, thereby bypassing the β-hexosaminidase A defect. (prolekare.cz)
  • The disorder is caused by mutations in the HexA gene coding for the α-subunit of lysosomal β-hexosaminidase A (HexA), which removes N-acetyl-glucosamine residue from G M2 ganglioside, converting it to G M3 ganglioside. (prolekare.cz)
  • In case of unfunctioning beta-hexosaminidase enzyme, gangliosides start to accumulate, especially in the lysosomes of neurons, causing problems. (animalabs.com)
  • These genetic changes result in an unstable activator protein that is quickly degraded, or they prevent the gene from making any functional protein. (medlineplus.gov)
  • This gene encodes a member of the glycosyl hydrolase 20 family of proteins. (genecards.org)
  • Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and beta-N-acetylhexosaminidase activity . (genecards.org)
  • Schroder M, Schnabel D, Suzuki K, Sandhoff K. A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB. (proteopedia.org)
  • The catabolism of ganglioside GM2 is dependent on three gene products. (genengnews.com)
  • ASAH2 (N-Acylsphingosine Amidohydrolase 2) is a Protein Coding gene. (genecards.org)
  • Gene Ontology (GO) analysis was used for interpretation of protein function. (biomedcentral.com)
  • Evidence from analysis of the gene for this enzyme revealed binding sequences for a number of liver restricted transcription factors such as hepatocyte nuclear factor l a, liver specific factors D-binding protein (DBP), and liver enriched transcription activator protein (LAP), as well as the more general transcription factors AP-1 and AP-2. (elsevier.com)
  • The ultimate step leading to Mucin 2 or Mucin 5AC gene upregulation is the activation of several transcription factors including Nuclear Factor kappa-B ( NF-kB ), Activator protein 1 ( AP-1 ) that is mainly composed of c-Jun and c-Fos ( c-Jun/c-Fos heterodimer), and Sp1 transcription factor ( SP1 ) [ 15 ]. (bio-rad.com)
  • Deficiencies in lysosomal enzymes that degrade the carbohydrate portions of various gangliosides are responsible for a number of lysosomal storage diseases such as Tay-Sachs disease, Sandhoff disease, and GM1 gangliosidosis. (hmdb.ca)
  • In rare, hereditary storage diseases such as Sandhoff's disease or Tay-Sachs syndrome, the metabolic waste from accumulating gangliosides cannot be properly disposed of in the nerve cells because key enzymes are missing. (genengnews.com)
  • Some of these enzymes require specific low-molecular mass, non-enzymic proteins: the sphingolipids activator proteins (coproteins). (proteopedia.org)
  • The generation of Aβ involves sequential proteolytic cleavages of the amyloid precursor protein (APP) by enzymes called β-and γ-secretases. (biomedcentral.com)
  • [1] For example, the close association between many enzymes and biological membranes may bring them into close proximity with their lipid substrate (s). [2] Membrane binding may also promote rearrangement, dissociation, or conformational changes within many protein structural domains, resulting in an activation of their biological activity. (wikidoc.org)
  • 2 LDs are inherited conditions that are caused by defects in enzymes, enzyme activator proteins, membrane proteins, transporters, or enzyme targeting to the lysosome with resulting abnormal storage of complex macromolecules. (mhmedical.com)
  • Defective targeting of lysosomal enzymes to lysosomes (eg, I-cell disease), abnormal lysosomal membrane proteins (eg, Danon disease), and defective egress of substrate (eg, infantile sialic acid storage disease/Salla disease) also may cause abnormal storage. (mhmedical.com)
  • NLGM 1 increased endothelial cell protein expression of antioxidant enzymes heme oxygenase 1 and NAD (P)H quinone dehydrogenase 1 and increased nuclear factor, erythroid 2 like 2 (Nrf‐2) protein. (ahajournals.org)
  • Some of these mutations change single protein building blocks (amino acids) in the GM2 ganglioside activator. (medlineplus.gov)
  • All mutations identified so far to cause familial forms of early onset AD (FAD) are localized close to or within the Aβ domain of the amyloid precursor protein (APP) or in the presenilin proteins that are essential components of a protease complex involved in the generation of Aβ. (biomedcentral.com)
  • As the respective PS proteins are the catalytic components of the γ-secretase complex, PS mutations are also directly linked to APP processing and commonly increase the relative abundance of the more aggregation prone Aβ42 variant as compared to Aβ40. (biomedcentral.com)
  • In contrast to LT-IIb, which binds strongly to ganglioside receptors decorated with either N -acetylneuraminic acid (NeuAc) or N -glycolylneuraminic acid (NeuGc), LT-IIb(T13I) binds NeuAc gangliosides much less well. (pubmedcentralcanada.ca)
  • Rather, LT-IIb(T13I) binds preferentially to NeuGc gangliosides. (pubmedcentralcanada.ca)
  • This study describes the characterization and partial purification of an endogenous protein from rat brain which binds with high affinity to GM1 ganglioside. (yu.edu)
  • Kinetic studies indicated that GM1 binds this protein with higher affinity than it binds cholera toxin. (yu.edu)
  • This enzyme, combined with the GM2 activator protein, is responsible for the breakdown of ganglioside GM2 within the lysosome. (wikipedia.org)
  • The Niemann-Pick type C2 (NPC2) protein is a small, soluble, lysosomal protein important for cholesterol and sphingolipid transport in the lysosome. (rupress.org)
  • Saposin B is a small, nonenzymatic glycosphingolipid activator protein required for the breakdown of cerebroside sulfates (sulfatides) within the lysosome. (proteopedia.org)
  • Here, we show that oxysterol binding protein (OSBP) and its anchors at the endoplasmic reticulum (ER), VAPA and VAPB, deliver cholesterol across ER-lysosome contacts to activate mTORC1. (bvsalud.org)
  • GM2-activator protein (GM2-AP) is a lipid transfer protein that has the ability to stimulate the enzymatic processing of gangliosides as well as T-cell activation through lipid presentation. (proteopedia.org)
  • Hydrolyzes the non-reducing end N-acetyl-D-hexosamine and/or sulfated N-acetyl-D-hexosamine of glycoconjugates, such as the oligosaccharide moieties from proteins and neutral glycolipids, or from certain mucopolysaccharides (PubMed:11707436, PubMed:9694901, PubMed:8672428, PubMed:8123671). (genecards.org)
  • The overlap of transfer activity between these different molecules is rather large, as they all bind similar glycolipids such as gangliosides ( 19 , 20 ). (rupress.org)
  • Sialic acid-containing glycolipids, known as gangliosides, play important structural and functional roles. (frontiersin.org)
  • To determine if the adjuvant properties of LT-IIb(T13I) are altered in the absence of NeuGc ganglioside receptors, experiments were conducted using a Cmah -null mouse line which is deficient in the synthesis of NeuGc gangliosides. (pubmedcentralcanada.ca)
  • Campana WM, Hiraiwa M, O'Brien JS (1998) Prosaptide activates the MAPK pathway by a G-protein-dependent mechanism essential for enhanced sulfatide synthesis by Schwann cells. (springer.com)
  • Presumably, the expression of the various glycosyltransferases for ganglioside synthesis may be regulated in an analogous manner. (elsevier.com)
  • Another intriguing mechanism for the regulation of ganglioside synthesis states that in cultured cerebellar cells a shift in the biosynthesis from a- to b-series gangliosides occurred when the pH of the medium was lowered from 7.4 to 6.2, with the effect being reversible. (elsevier.com)
  • For the first time, we provide evidence that MGAT3 expression may be epigenetically regulated by DNA hypomethylation, leading to the synthesis of the unique "bisecting GlcNAc" type N -glycans on the membrane proteins of ovarian cancer cells. (mcponline.org)
  • Progressive damage caused by the buildup of GM2 ganglioside leads to the destruction of these cells, which causes the signs and symptoms of the AB variant. (medlineplus.gov)
  • Because the AB variant impairs the function of a lysosomal enzyme and involves the buildup of GM2 ganglioside, this condition is sometimes referred to as a lysosomal storage disorder or a GM2-gangliosidosis. (medlineplus.gov)
  • In Tay-Sachs syndrome and Sandhoff's disease, components of nerve cell membranes cannot be properly degraded, resulting in the ganglioside GM2 being stored in the lysosomes. (genengnews.com)
  • If the GM2-degrading enzyme Hex A is missing or impaired, for example, due to genetic defects, destructive ganglioside storage occurs. (genengnews.com)
  • GALNT3: an enzyme that catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. (mybiosource.com)
  • There are two key functional variations among BoNTs: the particular SNARE proteins that their LCs cleave, and the cellular receptors that they use to enter cells. (prolekare.cz)
  • For example, the monosialylated GM1 ganglioside is a critical organizer of lipid rafts, which act as hubs for receptors and signaling complexes. (jneurosci.org)
  • The regulatory protein subunits of many ion channels and transmembrane receptors , for example, may be defined as peripheral membrane proteins. (wikidoc.org)
  • It was identified as a member of ML domain family of proteins involved in innate immunity and lipid metabolism in the SMART database. (wikipedia.org)
  • Here, we review the close connection of cellular lipid metabolism and AD associated proteins and discuss potential mechanisms that could contribute to initiation and progression of AD. (biomedcentral.com)
  • Yu, RK 1994, ' Development regulation of ganglioside metabolism ', Progress in Brain Research , vol. 101, no. (elsevier.com)
  • GM2 gangliosidoses are inherited disorders of GM2 ganglioside metabolism. (78stepshealth.us)
  • Ganglioside GD2 (d18:1/18:0) is a glycosphingolipid (ceramide and oligosaccharide)or oligoglycosylceramide with one or more sialic acids (i.e. n-acetylneuraminic acid) linked on the sugar chain. (hmdb.ca)
  • A ganglioside is a compound composed of a glycosphingolipid (ceramide and oligosaccharide) with one or more sialic acids (AKA n-acetylneuraminic acid, NANA) linked on the sugar chain. (hmdb.ca)
  • In all Gangliosides, the ceramide is linked through its C-1 to a beta-glucosyl residue, which, in turn, is bound to a beta-galactosyl residue. (hmdb.ca)
  • Although there is evidence to support a role for sialidase in axon regeneration, the underlying mechanisms are unclear and a role for endogenous regulation of gangliosides in axon regeneration has not been clearly defined. (jneurosci.org)
  • The letter G refers to ganglioside, and the subscripts M, D, T and Q indicate that the molecule contains mono-, di-, tri and quatra-sialic acid. (hmdb.ca)
  • G refers to ganglioside, the M is for monosialic (as in it has one sialic acid), and 2 refers to the fact that it was the second monosialic ganglioside discovered. (wikipedia.org)
  • Previously, we identified a novel ganglioside metabolizing sialidase, Neu4, abundantly expressed in mouse brain neurons. (prolekare.cz)
  • Further, double-knockout but not single-knockout mice have multiple degenerating neurons in the cortex and hippocampus and multiple layers of cortical neurons accumulating G M2 ganglioside. (prolekare.cz)
  • Here we identified synaptic vesicle protein SV2 as the protein receptor for BoNT/D. BoNT/D enters cultured hippocampal neurons via synaptic vesicle recycling and can bind SV2 in brain detergent extracts. (prolekare.cz)
  • Once inside neurons, they act as proteases to cleave host proteins essential for synaptic vesicle exocytosis. (prolekare.cz)
  • To investigate whether injury-induced ganglioside processing is operative in CNS neurons, cultured retinal neurons were axotomized and analyzed for GM1 content. (jneurosci.org)
  • Phospholipid Outside-Inside Translocation in Lymphocyte Plasma Membranes Is a Protein-Mediated Phenomenon, Biochim. (bio-cat.ru)
  • The reversible attachment of proteins to biological membranes has shown to regulate cell signaling and many other important cellular events, through a variety of mechanisms. (wikidoc.org)
  • The inner and outer surfaces, or interfacial regions, of model phospholipid bilayers have been shown to have a thickness of around 8 to 10 Å , although this may be wider in biological membranes that include large amounts of gangliosides or lipopolysaccharides . (wikidoc.org)
  • Hydrocortisone stimulated protein biosynthesis in matrix, inner and outer mitochondrial membranes of intact and thyroidectomized rats, whereas the biosynthesis was altered less distinctly in outer membranes. (atorvastatin2020.site)
  • Coordinates of all examined peripheral proteins and peptides with the calculated hydrophobic membrane boundaries, subcellular localization, topology, structural classification, and experimental references are available through the Orientations of Proteins in Membranes (OPM) database. (biomedcentral.com)
  • More than half of all proteins interact with membranes. (biomedcentral.com)
  • Positions of proteins in membranes can also be determined computationally. (biomedcentral.com)
  • Researchers at the University of Bonn report that they have discovered why these gangliosides also accumulate in patients with other storage diseases and cause a deterioration in them. (genengnews.com)
  • When fatal amount of GM2 gangliosides, the cell membrane components, accumulate in the tissue and nerve cells, the disease occurs by the premature death of nerve cells. (51due.com)
  • Some polypeptide hormones , antimicrobial peptides , and neurotoxins accumulate at the membrane surface prior to locating and interacting with their cell surface receptor targets, which may themselves be peripheral membrane proteins. (wikidoc.org)
  • The disease occurs when harmful quantities of a fatty acid derivative called a ganglioside accumulate in the nerve cells of the brain. (silencinggenomes.org)
  • Whether changes in pH occur in vivo to effect the shift in biosynthesis of gangliosides during development remains to be substantiated. (elsevier.com)
  • Recognizes endogenous levels of HEXB protein. (genetex.com)
  • This is the first description of an endogenous protein, with characteristics distinct from activator and transport proteins, demonstrating high binding affinity for GM1 ganglioside. (yu.edu)
  • Exclusive exposure of rat oligodendrocytes to GD1a, but not other gangliosides, overcomes aggregated fibronectin-induced inhibition of myelin membrane formation, in vitro , and OPC differentiation in fibronectin aggregate containing cuprizone-induced demyelinated lesions in male mice. (jneurosci.org)
  • Kinase activity profiling revealed that GD1a activated a protein kinase A (PKA)-dependent signaling pathway and increased phosphorylation of the transcription factor cAMP response element-binding protein. (jneurosci.org)
  • Consistently, the effect of GD1a in restoring myelin membrane formation in the presence of fibronectin aggregates was abolished by the PKA inhibitor H89, whereas the effect of GD1a was mimicked by the PKA activator dibutyryl-cAMP. (jneurosci.org)
  • Given the persistent presence of fibronectin aggregates in MS lesions, ganglioside GD1a might act as a potential novel therapeutic tool to selectively modulate the detrimental signaling environment that precludes remyelination. (jneurosci.org)
  • SIGNIFICANCE STATEMENT As an environmental factor, aggregates of the extracellular matrix protein fibronectin perturb the maturation of oligodendrocyte progenitor cells (OPCs), thereby impeding remyelination, in the demyelinating disease multiple sclerosis (MS). Here we demonstrate that exogenous addition of ganglioside GD1a overcomes the inhibiting effect of aggregated fibronectin on OPC maturation, both in vitro and in vivo , by activating a PKA-dependent signaling pathway. (jneurosci.org)
  • This IP-WB antibody pair set comes with one antibody for immunoprecipitation and another to detect the precipitated protein in western blot. (abnova.com)
  • Tumor immune escape and angiogenesis contribute to tumor progression, and gangliosides and activation of signal transducer and activator of transcription (STAT)-3 are implicated in these processes. (beds.ac.uk)
  • Some characteristics of tumor biology, like deregulated expression of gangliosides and constitutive activation of signal transducer and activator of transcription (STAT)-3, have been implicated in tumor-host interactions, i.e. tumor immune escape and angiogenesis. (beds.ac.uk)
  • We have previously shown that hyperactivation of the Janus-activated kinase 2/signal transducers and activators of transcription 3 (JAK2/STAT3) induced by tumor-derived factors (TDF) is responsible for abnormal dendritic cell differentiation. (aacrjournals.org)
  • Recent studies have identified one such pathway, Janus-activated kinase 2/signal transducers and activators of transcription 3 (JAK2/STAT3) signaling. (aacrjournals.org)
  • Saposin-D is a specific sphingomyelin phosphodiesterase activator (EC 3.1.4.12). (proteopedia.org)
  • HEXA protein solution (1mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 0.4M UREA and 10% glycerol. (prospecbio.com)
  • Immunoprecipitation of HEXA transfected lysate using rabbit polyclonal anti-HEXA and Protein A Magnetic Bead ( U0007 ), and immunoblotted with mouse purified polyclonal anti-HEXA. (abnova.com)
  • NeuNAc, an acetylated derivative of the carbohydrate sialic acid, makes the head groups of Gangliosides anionic. (hmdb.ca)
  • The elucidation of the chemical composition of sialic acid was accompanied by the recognition that it has specific biological properties and that the gangliosides are frequently the glycoconjugate carrier. (springer.com)
  • their Fig. 2), suggesting that Neu3-mediated ganglioside processing is a critical injury-induced mediator of peripheral axon regeneration. (jneurosci.org)
  • Peripheral membrane proteins are proteins that adhere only temporarily to the biological membrane with which they are associated. (wikidoc.org)
  • These molecules attach to integral membrane proteins , or penetrate the peripheral regions of the lipid bilayer . (wikidoc.org)
  • In contrast to integral membrane proteins, peripheral membrane proteins tend to collect in the water-soluble component, or fraction, of all the proteins extracted during a protein purification procedure. (wikidoc.org)
  • Peripheral membrane proteins may interact with other proteins or directly with the lipid bilayer . (wikidoc.org)
  • These proteins are usually described as peripheral as one of their conformational states is water-soluble or only loosely associated with a membrane. (wikidoc.org)
  • Three-dimensional (3D) structures of numerous peripheral membrane proteins have been determined. (biomedcentral.com)
  • We report the first large-scale computational study of monotopic/peripheral proteins with known 3D structures. (biomedcentral.com)
  • Predicted membrane-binding sites, protein tilt angles and membrane penetration depths are consistent with spin-labeling, chemical modification, fluorescence, NMR, mutagenesis, and other experimental studies of 53 peripheral proteins and peptides. (biomedcentral.com)
  • Positions of diverse peripheral proteins and peptides in the lipid bilayer can be accurately predicted using their 3D structures that represent a proper membrane-bound conformation and oligomeric state, and have membrane binding elements present. (biomedcentral.com)
  • Our results demonstrate that most peripheral proteins not only interact with the membrane surface, but penetrate through the interfacial region and reach the hydrocarbon interior, which is consistent with published experimental studies. (biomedcentral.com)
  • These proteins can be classified as transmembrane, integral monotopic, or peripheral. (biomedcentral.com)
  • Peripheral proteins are water-soluble and associate with lipid bilayers reversibly. (biomedcentral.com)
  • Spatial positions in the lipid bilayer have been experimentally studied for approximately 50 peripheral proteins with known three-dimensional (3D) structures using site-directed spin labeling, chemical labeling, measurement of membrane binding affinities of protein mutants, fluorescence spectroscopy, solution or solid-state NMR spectroscopy, ATR FTIR spectroscopy, or X-ray diffraction. (biomedcentral.com)
  • Table 1 Comparison of membrane-bound residues in peripheral proteins according to experimental studies and calculations peripheral proteins. (biomedcentral.com)
  • Light chain amyloidosis (AL) is associated with high mortality and morbidity resulting from clonal overproduction of amyloidogenic light chain proteins (LC) that misfold and deposit in various organs such as the heart, vasculature, kidneys, gastrointestinal tissue, and peripheral nerves, leading to multiorgan damage. (ahajournals.org)
  • As gangliosides are mainly expressed in central nervous tissues, we also analyzed LCKD effect on cerebral cortex. (nii.ac.jp)
  • Investigating fibroblasts from tumorous tissues of skin, lung and bone marrow with respect to such inflammation-related proteins revealed hardly any conformity but rather individual and tumor type-related variations. (biomedcentral.com)
  • It is caused by toxicity of misfolded light chain proteins ( LC ) in vascular, cardiac, and other tissues. (ahajournals.org)
  • A combination of Arg-424 and the amino acids that cause the formation of the loop allow the alpha subunit to hydrolyze G M2 gangliosides into G M3 gangliosides by removing the N-acetylgalactosamine (GalNAc) residue from G M2 gangliosides. (wikipedia.org)
  • The crystal structure of Hex A reveals an alpha beta heterodimer, with each subunit having a functional active site: Only the a-subunit active site can hydrolyze G(M2) gangliosides due to a flexible loop structure that is removed post-translationally from beta, and to the presence of alpha Asn423 and alpha Arg424. (ubc.ca)
  • Some water-soluble proteins associate with lipid bilayers irreversibly and can form transmembrane alpha-helical or beta-barrel channels. (wikidoc.org)
  • Type I and type II enterotoxins are oligomeric proteins composed of an A polypeptide that is noncovalently coupled to a pentameric array of B polypeptides. (pubmedcentralcanada.ca)
  • It has been noted that other proteins have the same polypeptide motif characterized by the similar location of six cysteines. (biosyn.com)
  • 1997) "Fip-vvo, a new fungal immunomodulatory protein isolated from Volvariella volvacea," Biochem. (patents.com)
  • A Triple-binding-domain Model Explains the Specificity of the Interaction of a Sphingolipid Activator Protein (SAP-1) with Sulphatide, GMi- ganglioside and Glubotriaosylceramide, Biochem. (bio-cat.ru)
  • Studies on Membrane Proteins Involved in Ribosome Binding on the Rough Endoplasmic Reticulum, Biochem. (bio-cat.ru)
  • While neurofibrillary tangles (NFT) consist of paired helical filaments (PHF) of the microtubule-associated protein tau, amyloid plaques contain aggregated amyloid β-peptides (Aβ). (biomedcentral.com)
  • In particular embodiments, the labeled molecules may be peptides or proteins, although other types of molecules including but not limited to aptamers, oligonucleotides and nucleic acids may be labeled and utilized for such imaging studies. (freepatentsonline.com)
  • A new method of labeling peptides and proteins with F-18 via a metal ligand" Abstract #384, J Nucl Med. (freepatentsonline.com)
  • A new method of labeling peptides and proteins with F-18 via a metal ligand", Power Point Presentation, 55th SNM Annual Meeting, New Orleans, LA, Jun. (freepatentsonline.com)
  • Analysis of lipid storage in postmortem brains of patients with amaurotic idiocy led to the recognition of five lysosomal ganglioside storage diseases and identification of their inherited metabolic blocks. (go.jp)
  • Gangliosides are typically found as membrane constituents in brain, a finding that suggests a specific functional role in the central nervous system (CNS). (springer.com)
  • 606873) but the inability to form a functional GM2 activator complex. (malacards.org)
  • 2006) "Functional Expression of FIP-gts, a Fungal Immunomodulatory Protein from Ganoderma Tsugae in Sf21 Insect Cells," Biosci. (patents.com)
  • Henseler M, Klein A, Glombitza GJ, Suziki K, Sandhoff K (1996) Expression of the three alternative forms of the sphingolipid activator protein precursor in baby hamster kidney cells and functional assays in a cell culture system. (springer.com)
  • In a functional assay, the GM2-activator thus generated from Escherichia coli and renatured, with or without the hexahistidine tail, was as active as the native GM2-activator protein that was purified from human tissue. (biochemj.org)
  • The Ninth Component of Complement and the Pore-Forming Protein (Performin 1) from Cytotoxic T Cells: Structural, Immunological, and Functional Similarities, Science, 233, 184 190. (bio-cat.ru)
  • Many functional proteins are involved in calcium binding or biomineralization--prerequisites for interacting with the mineral phase during eggshell fabrication. (biomedcentral.com)
  • We have shown in vitro and in vivo that iGb3 could not load CD1d spontaneously but rather required the assistance of lipid transfer proteins (LTPs) such as saposin ( 10 ). (rupress.org)
  • The 60+ known gangliosides differ mainly in the position and number of NANA residues. (hmdb.ca)
  • Normally, the auxiliary protein GM2AP helps to catch and release the GM2 that sits on the shell of the vesicles. (genengnews.com)
  • Saposins A, B, C, and D are a group of structurally similar glycoproteins derived by proteolytic processing from a single precursor protein, prosaposin. (biosyn.com)
  • The discovery that all four saposins are part of a single precursor protein, prosaposin, began with the cloning of a cDNA encoding saposin B and the discovery that the human cDNA sequence was homologous with a protein in rat testis, SGP-1 4 . (biosyn.com)
  • Saposins and prosaposin are expressed by various cell types and as a secretory protein in body fluids including blood, seminal plasma, seminiferous tubular fluid, and prostatic secretions. (biosyn.com)
  • TX14A), saposin C, and prosaposin exert their biological effects by binding to a partially characterized single high-affinity G-protein coupled receptor (GPCR) 6 . (biosyn.com)
  • It is now established that abnormal dendritic cell differentiation is mediated by soluble factors produced by tumor cells including vascular endothelial growth factor, macrophage-colony-stimulating factor (CSF), granulocyte macrophage CSF (GM-CSF), interleukin-10 (IL-10), IL-6, gangliosides, spermin, etc. ( 5 - 19 ). (aacrjournals.org)
  • Mutant human cu,zn SOD causes motor neuron disease when expressed at high levels in transgenic mice, indicating that disease is caused by the presence of the altered protein.2 Expression of wild type human cu,zn SOD at the same level does not cause disease. (docme.ru)
  • The cDNA of the human GM2-activator protein was cloned into the expression vector pHX17. (biochemj.org)
  • The prokaryotic expression system is useful for producing milligram quantities of a pure and functionally active GM2-activator. (biochemj.org)
  • Various reports have appeared indicating that the expression of gangliosides may be largely regulated at the genetic level. (elsevier.com)
  • Factors involved in the regulation of ganglioside expression include the proper translocation and sorting of the glycolipid products in multi-glycosyltransferase systems. (elsevier.com)
  • Disruption of the flow of gangliosides along their biosynthetic pathways also can cause alterations in ganglioside expression. (elsevier.com)
  • The Mann-Whitney U test identified differential tear protein expression between children with JIA-U and those with I-CAU. (springeropen.com)
  • the same cytokines have been reported in aqueous humor of children with JIA-U. Tears from children with JIA-U had higher expression of proteins associated with inflammatory arthritis (SEMA3G, TIMP1, HEXB, ERN1, and SAA1) than tears from those with I-CAU. (springeropen.com)
  • furthermore, differential expression of other tear proteins as well may provide clues to intrinsic differences between JIA-U and I-CAU, despite their similar clinical phenotypes. (springeropen.com)
  • We quantified 1804 unique proteins, following a QC step that filtered proteins based on expression levels, and 1605 proteins had a present call in half of the samples. (springeropen.com)
  • As both are considered as novel therapeutic targets, we assessed the possible association of ganglioside GM3 expression and STAT3 activation with suppression of dendritic cell (DC) activation and angiogenesis in non-small cell lung cancer (NSCLC). (beds.ac.uk)
  • The alpha subunit contains a key residue, Arg -424, which is essential for binding the N-acetyl-neuramanic residue of G M2 gangliosides. (wikipedia.org)
  • People with Tay-Sachs disease are unable to remove the GalNAc residue from the G M2 ganglioside, and as a result, they end up storing 100 to 1000 times more G M2 gangliosides in the brain than the normal person. (wikipedia.org)
  • The loop structure is involved in binding the G(M2) activator protein, while aArg424 is critical for binding the carboxylate group of the N-acetyl-neuraminic acid residue of G(M2). (ubc.ca)
  • Hex A degrades G M2 by removing a terminal N-acetyl-D-galactosamine (β-GalNAc) residue, and this activity requires the G M2 -activator, a protein which solubilizes the ganglioside for presentation to Hex A. We present here the crystal structure of human Hex B, alone (2.4Å) and in complex with the mechanistic inhibitors GalNAc-isofagomine (2.2Å) or NAG-thiazoline (2.5Å). (researchwithrutgers.com)
  • Natural and semisynthetic gangliosides are considered possible therapeutics for neurodegenerative disorders. (hmdb.ca)
  • Immobilization of the protein on this affinity column was done in order to avoid modifying any amino acids at the toxoid's GM1 binding site which might in turn reduce its binding affinity. (yu.edu)
  • 100 nm and composed of various phospholipids that were recently shown to have affinity for amyloid proteins, both β‐amyloid 8 , 9 and LC. (ahajournals.org)
  • Notably, APP itself as well as the secretases are integral membrane proteins. (biomedcentral.com)
  • Proteins with GPI anchors are an exception to this rule and can have purification properties similar to those of integral membrane proteins . (wikidoc.org)
  • We identified characteristic glycan features that were unique to the ovarian cancer membrane proteins, namely the "bisecting N -acetyl-glucosamine" type N -glycans, increased levels of α 2-6 sialylated N -glycans and " N , N ′-diacetyl-lactosamine" type N -glycans. (mcponline.org)
  • Biosynthesis and intracellular trafficking of lysosomal hydrolases (hexosaminidases, acid sphingomyelinase and ceramidase) and lipid binding and transfer proteins (GM2 activator, saposins) were analyzed to identify the molecular and metabolic basis of several sphingolipidoses. (go.jp)
  • Complementary deoxyribonucleic acid (cDNA) clones encoding a 70-kDa heat shock protein (HSP) were isolated and characterized from M. Clinical outcomes were assessed with preoperative and postoperative visual analog scale neck pain scores and Nurick grading. (atorvastatin2020.site)
  • The inventors surprisingly found that an immunomodulatory protein from Ganoderma can promote neurite outgrowth, suggesting that the immunomodulatory protein from Ganoderma can treat and/or prevent neurological disorders. (patents.com)