Gangliosidoses: 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.Lipidoses: 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.Hexosaminidase A: 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.Hexosaminidase B: 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.Hexosaminidases: Enzymes that catalyze the hydrolysis of N-acylhexosamine residues in N-acylhexosamides. Hexosaminidases also act on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES.beta-N-Acetylhexosaminidases: 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.Tay-Sachs Disease: 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.G(M2) Ganglioside: 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.Sandhoff Disease: 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.G(M2) Activator Protein: 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.Acetylglucosaminidase: A beta-N-Acetylhexosaminidase that catalyzes the hydrolysis of terminal, non-reducing 2-acetamido-2-deoxy-beta-glucose residues in chitobiose and higher analogs as well as in glycoproteins. Has been used widely in structural studies on bacterial cell walls and in the study of diseases such as MUCOLIPIDOSIS and various inflammatory disorders of muscle and connective tissue.Interleukin-1beta: An interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein. Proteolytic processing of the precursor form by CASPASE 1 results in release of the active form of interleukin-1beta from the membrane.Chromosomes, Human, 4-5: The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.Sphingolipid Activator Proteins: 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.beta 2-Microglobulin: An 11-kDa protein associated with the outer membrane of many cells including lymphocytes. It is the small subunit of the MHC class I molecule. Association with beta 2-microglobulin is generally required for the transport of class I heavy chains from the endoplasmic reticulum to the cell surface. Beta 2-microglobulin is present in small amounts in serum, csf, and urine of normal people, and to a much greater degree in the urine and plasma of patients with tubular proteinemia, renal failure, or kidney transplants.Molecular Sequence Data: 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.Hymecromone: A coumarin derivative possessing properties as a spasmolytic, choleretic and light-protective agent. It is also used in ANALYTICAL CHEMISTRY TECHNIQUES for the determination of NITRIC ACID.Isoenzymes: Structurally related forms of an enzyme. Each isoenzyme has the same mechanism and classification, but differs in its chemical, physical, or immunological characteristics.Gangliosidoses, GM2: 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.Electrophoresis, Starch Gel: Electrophoresis in which a starch gel (a mixture of amylose and amylopectin) is used as the diffusion medium.Amino Acid Sequence: 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.Receptors, Adrenergic, beta: One of two major pharmacologically defined classes of adrenergic receptors. The beta adrenergic receptors play an important role in regulating CARDIAC MUSCLE contraction, SMOOTH MUSCLE relaxation, and GLYCOGENOLYSIS.Integrin beta3: An integrin beta subunit of approximately 85-kDa in size which has been found in INTEGRIN ALPHAIIB-containing and INTEGRIN ALPHAV-containing heterodimers. Integrin beta3 occurs as three alternatively spliced isoforms, designated beta3A-C.Saposins: A group of four homologous sphingolipid activator proteins that are formed from proteolytic cleavage of a common protein precursor molecule referred to as prosaposin.Chromosomes, Human, 13-15: The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Macromolecular Substances: Compounds and molecular complexes that consist of very large numbers of atoms and are generally over 500 kDa in size. In biological systems macromolecular substances usually can be visualized using ELECTRON MICROSCOPY and are distinguished from ORGANELLES by the lack of a membrane structure.Acetylglucosamine: The N-acetyl derivative of glucosamine.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Kinetics: The rate dynamics in chemical or physical systems.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Lysosomes: 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)Receptors, Antigen, T-Cell, alpha-beta: T-cell receptors composed of CD3-associated alpha and beta polypeptide chains and expressed primarily in CD4+ or CD8+ T-cells. Unlike immunoglobulins, the alpha-beta T-cell receptors recognize antigens only when presented in association with major histocompatibility (MHC) molecules.Heterozygote Detection: Identification of genetic carriers for a given trait.Transforming Growth Factor beta: A factor synthesized in a wide variety of tissues. It acts synergistically with TGF-alpha in inducing phenotypic transformation and can also act as a negative autocrine growth factor. TGF-beta has a potential role in embryonal development, cellular differentiation, hormone secretion, and immune function. TGF-beta is found mostly as homodimer forms of separate gene products TGF-beta1, TGF-beta2 or TGF-beta3. Heterodimers composed of TGF-beta1 and 2 (TGF-beta1.2) or of TGF-beta2 and 3 (TGF-beta2.3) have been isolated. The TGF-beta proteins are synthesized as precursor proteins.Cells, Cultured: 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.Isoelectric Focusing: Electrophoresis in which a pH gradient is established in a gel medium and proteins migrate until they reach the site (or focus) at which the pH is equal to their isoelectric point.Molecular Weight: The sum of the weight of all the atoms in a molecule.Protein Conformation: The characteristic 3-dimensional shape of a protein, including the secondary, supersecondary (motifs), tertiary (domains) and quaternary structure of the peptide chain. PROTEIN STRUCTURE, QUATERNARY describes the conformation assumed by multimeric proteins (aggregates of more than one polypeptide chain).RNA, Messenger: 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.Electrophoresis, Polyacrylamide Gel: Electrophoresis in which a polyacrylamide gel is used as the diffusion medium.Hemoglobins, Abnormal: Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.Mutation: 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.Integrin alpha5beta1: An integrin found in FIBROBLASTS; PLATELETS; MONOCYTES, and LYMPHOCYTES. Integrin alpha5beta1 is the classical receptor for FIBRONECTIN, but it also functions as a receptor for LAMININ and several other EXTRACELLULAR MATRIX PROTEINS.Integrin beta4: Also known as CD104 antigen, this protein is distinguished from other beta integrins by its relatively long cytoplasmic domain (approximately 1000 amino acids vs. approximately 50). Five alternatively spliced isoforms have been described.Integrin beta Chains: Integrin beta chains combine with integrin alpha chains to form heterodimeric cell surface receptors. Integrins have traditionally been classified into functional groups based on the identity of one of three beta chains present in the heterodimer. The beta chain is necessary and sufficient for integrin-dependent signaling. Its short cytoplasmic tail contains sequences critical for inside-out signaling.

Biochemical consequences of mutations causing the GM2 gangliosidoses. (1/11)

The hydrolysis of GM2-ganglioside is unusual in its requirements for the correct synthesis, processing, and ultimate combination of three gene products. Whereas two of these proteins are the alpha- (HEXA gene) and beta- (HEXB) subunits of beta-hexosaminidase A, the third is a small glycolipid transport protein, the GM2 activator protein (GM2A), which acts as a substrate specific co-factor for the enzyme. A deficiency of any one of these proteins leads to storage of the ganglioside, primarily in the lysosomes of neuronal cells, and one of the three forms of GM2-gangliosidosis, Tay-Sachs disease, Sandhoff disease or the AB-variant form. Studies of the biochemical impact of naturally occurring mutations associated with the GM2 gangliosidoses on mRNA splicing and stability, and on the intracellular transport and stability of the affected protein have provided some general insights into these complex cellular mechanisms. However, such studies have revealed little in the way of structure-function information on the proteins. It appears that the detrimental effect of most mutations is not specifically on functional elements of the protein, but rather on the proteins' overall folding and/or intracellular transport. The few exceptions to this generalization are missense mutations at two codons in HEXA, causing the unique biochemical phenotype known as the B1-variant, and one codon in both the HEXB and GM2A genes. Biochemical characterization of these mutations has led to the localization of functional residues and/or domains within each of the encoded proteins.  (+info)

Lysosome-related genes are regulated in the orbital fat of patients with graves' ophthalmopathy. (2/11)

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Immunologic glycosphingolipidomics and NKT cell development in mouse thymus. (3/11)

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DRG-targeted helper-dependent adenoviruses mediate selective gene delivery for therapeutic rescue of sensory neuronopathies in mice. (4/11)

Dorsal root ganglion (DRG) neuron dysfunction occurs in a variety of sensory neuronopathies for which there are currently no satisfactory treatments. Here we describe the development of a strategy to target therapeutic genes to DRG neurons for the treatment of these disorders. We genetically modified an adenovirus (Ad) to generate a helper virus (HV) that was detargeted for native adenoviral tropism and contained DRG homing peptides in the adenoviral capsid fiber protein; we used this HV to generate DRG-targeted helper-dependent Ad (HDAd). In mice, intrathecal injection of this HDAd produced a 100-fold higher transduction of DRG neurons and a markedly attenuated inflammatory response compared with unmodified HDAd. We also injected HDAd encoding the beta subunit of beta-hexosaminidase (Hexb) into Hexb-deficient mice, a model of the neuronopathy Sandhoff disease. Delivery of the DRG-targeted HDAd reinstated neuron-specific Hexb production, reversed gangliosidosis, and ameliorated peripheral sensory dysfunction. The development of DRG neuron-targeted HDAd with proven efficacy in a preclinical model may have implications for the treatment of sensory neuronopathies of diverse etiologies.  (+info)

Early changes in the apparent diffusion coefficient (ADC) in a mouse model of Sandhoff's disease occur prior to disease symptoms and behavioral deficits. (5/11)

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Introduction of an N-glycan sequon into HEXA enhances human beta-hexosaminidase cellular uptake in a model of Sandhoff disease. (6/11)

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Thymic alterations in GM2 gangliosidoses model mice. (7/11)

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Therapeutic potential of intracerebroventricular replacement of modified human beta-hexosaminidase B for GM2 gangliosidosis. (8/11)

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*HEXA

Proia RL, Soravia E (April 1987). "Organization of the gene encoding the human beta-hexosaminidase alpha-chain". The Journal of ... Hexosaminidase A is a heterodimer composed of an alpha subunit (this protein) and a beta subunit. The alpha subunit polypeptide ... Even though the alpha and beta subunits of hexosaminidase A can both cleave GalNAc residues, only the alpha subunit is able to ... Mark BL, Mahuran DJ, Cherney MM, Zhao D, Knapp S, James MN (April 2003). "Crystal structure of human beta-hexosaminidase B: ...

*HEXA

Proia RL, Soravia E (April 1987). "Organization of the gene encoding the human beta-hexosaminidase alpha-chain". The Journal of ... Even though the alpha and beta subunits of hexosaminidase A can both cleave GalNAc residues, only the alpha subunit is able to ... The HEXA gene is a protein encoding gene that codes for the lysosomal enzyme beta-hexosaminidase. This enzyme, combined with ... Nishimoto J, Tanaka A, Nanba E, Suzuki K (August 1991). "Expression of the beta-hexosaminidase alpha subunit gene with the four ...

*Compound heterozygosity

Ohno, Kousaku & Suzuki, Kunihiko (1988-12-05). "Multiple Abnormal beta-Hexosaminidase alpha-Chain mRNAs in a Compound- ... These disorders include sickle cell-beta thalassemia. In the case of sickle cell anemia, an individual with one allele for ... 1988). "Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United ... when polymerase chain reaction techniques for amplification of DNA made it cost-effective to sequence genes and identify ...

*Glycoside hydrolase family 20

... one beta-A and one beta-B chain; hexosaminidase B is a tetramer of two beta-A and two beta-B chains; and hexosaminidase S is a ... The two beta chains are derived from the cleavage of a precursor. Mutations in the beta-chain lead to Sandhoff disease, a ... substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme". ... There are 3 forms of beta-hexosaminidase: hexosaminidase A is a trimer, with one alpha, ...

*Tay-Sachs disease

Ohno K, Suzuki K (5 December 1988). "Multiple Abnormal beta-Hexosaminidase Alpha-Chain mRNAs in a Compound-Heterozygous ... major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase". ... The mutation results in problems with an enzyme called beta-hexosaminidase A which results in the buildup of the molecule GM2 ... Total hexosaminidase enzyme activity is decreased in individuals with Tay-Sachs as is the percentage of hexosaminidase A. After ...

*Point mutation

The HEXA gene makes part of an enzyme called beta-hexosaminidase A, which plays a critical role in the nervous system. This ... beta" gene found on chromosome 11p15.5. A single point mutation in this polypeptide chain, which is 147 amino acids long, ... Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, preventing the breakdown of the fatty substances. As ... There are two subunits that make up the hemoglobin protein: beta-globins and alpha-globins. Beta-hemoglobin is created from the ...

*HEXB

"Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain ... Beta-hexosaminidase subunit beta is an enzyme that in humans is encoded by the HEXB gene. Hexosaminidase B is the beta subunit ... Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase ... Abnormal splicing of beta-hexosaminidase beta chain gene transcript due to a point mutation within intron 12". The Journal of ...

*List of diseases (H)

X-linked Hexosaminidases A and B deficiency HHH syndrome Hibernian fever, familial Hiccups Hidradenitis suppurativa familial ... syndrome Holzgreve-Wagner-Rehder syndrome Homocarnosinase deficiency Homocarnosinosis Homocystinuria due to cystathionine beta- ... ceroid lipofuscinosis Hereditary coproporphyria Hereditary deafness Hereditary elliptocytosis Hereditary fibrinogen Aα-Chain ...

*Prevention of Tay-Sachs disease

1993). "A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency ... modern testing in human subjects generally employs polymerase chain reaction because small tissue samples can be obtained by ... Kaback, Michael M. "Hexosaminidase A Deficiency". GeneReviews. Retrieved 2007-05-11. Machácková, Eva (2003). "Disease-causing ... Enzyme assay techniques detect individuals with lower levels of hexosaminidase A. Development of a serum enzyme assay test made ...

*Dispersin B

... a biofilm-releasing beta-hexosaminidase from a periodontal pathogen, in substrate hydrolysis". FEBS J. 274 (22): 5987-99. doi: ... Chain lengthening of the substrate was shown to increase the catalytic efficiency of Dispersin B. A substrate with a degree of ... "The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease". J Mol Biol. 328 (3): ... "Characterization of the Glu and Asp residues in the active site of human beta-hexosaminidase B". Biochemistry. 40 (7): 2201- ...

*Glycoprotein

... s are proteins which contain oligosaccharide chains (glycans) covalently attached to amino acid side-chains. The ... In S-glycosylation, a beta-GlcNAc is attached to the sulfur atom of a cysteine residue.[3] ... Provides information on molecular mass, composition, sequence, and sometimes branching of a glycan chain. It can also be used ... In N-glycosylation, sugars are attached to nitrogen, typically on the amide side-chain of asparagine. ...

*Neuraminidase

The composition of the polypeptide is a single chain of six conserved polar amino acids, followed by hydrophilic, variable ... Beta-galactosidase. *Hexosaminidase. *mannosidase *alpha-Mannosidase. *beta-mannosidase. *Aspartylglucosaminidase. *Fucosidase ... It comprises a single polypeptide chain that is oriented in the opposite direction to the hemagglutinin antigen. ...

*Mast cell

FcεR1 is a tetramer made of one alpha (α) chain, one beta (β) chain, and two identical, disulfide-linked gamma (γ) chains. The ... β-Hexosaminidase, cytokines, chemokines, PGD2, leukotrienes, and eoxins). Research into an immunological contribution to autism ... The assembly of the α chain with the co-transfected β and γ chains mask the ER retention and allows the α β γ complex to be ... Type 2 helper T cells,(Th2) and many other cell types lack the β chain, so signaling is mediated only by the γ chain. This is ...

*List of MeSH codes (D08)

4-beta-glucosidase MeSH D08.811.277.450.420.200.600 --- glucan endo-1,3-beta-d-glucosidase MeSH D08.811.277.450.420.375 --- ... cholesterol side-chain cleavage enzyme MeSH D08.811.600.250 --- electron transport chain complex proteins MeSH D08.811.600.250. ... hexosaminidases MeSH D08.811.277.450.483.021 --- acetylglucosaminidase MeSH D08.811.277.450.483.044 --- alpha-N- ... 4-beta xylanases MeSH D08.811.277.450.950.500 --- xylan endo-1,3-beta-xylosidase MeSH D08.811.277.656.149 --- atp-dependent ...

*Ganglioside

... beta-D-galactopyranose bDGalpNAc = N-acetyl-beta-D-galactopyranose bDGlcp = beta-D-glucopyranose Cer = ceramide (general N- ... For example, the fatal Tay-Sachs disease arises as a genetic defect which leads to no functional hexosaminidase A produced, ... Gangliosides are present and concentrated on cell surfaces, with the two hydrocarbon chains of the ceramide moiety embedded in ... N-Acetyl-D-galactose-beta-1,4-[N-Acetylneuraminidate- alpha-2,3-]-Galactose-beta-1,4-glucose-alpha-ceramide GM2b(?) = aNeu5Ac(2 ...

*Cathepsin D

Lemansky P, Gieselmann V, Hasilik A, von Figura K (August 1984). "Cathepsin D and beta-hexosaminidase synthesized in the ... 196 amino acid residues in the heavy chain and 141 in the light chain. These two chains are linked by the hydrophobic effect.[ ... macrophage inflammatory protein-1 beta, and SLC that are expressed in human breast cancer". The American Journal of Pathology. ... located on the 14 kDa and 34kDa chains.[11] The ultimate form of mature cathepsin D is composed of 337 amino acid residues, ...

*Oligosaccharyltransferase

"Photocross-linking of nascent chains to the STT3 subunit of the oligosaccharyltransferase complex". J. Cell Biol. 161 (4): 715 ... Beta-galactosidase. *Hexosaminidase. *mannosidase *alpha-Mannosidase. *beta-mannosidase. *Aspartylglucosaminidase. *Fucosidase ... at the membrane of the endoplasmic reticulum and transferred to selected asparagine residues of nascent polypeptide chains by ...
Previous work has shown that mutation of the gene that encodes the microtubule motor subunit kinesin heavy chain (Khc) in Drosophila inhibits neuronal sodium channel activity, action potentials and neurotransmitter secretion. These physiological defects cause progressive distal paralysis in larvae. To identify the cellular defects that cause these phenotypes, larval nerves were studied by light and electron microscopy. The axons of Khc mutants develop dramatic focal swellings along their lengths. The swellings are packed with fast axonal transport cargoes including vesicles, synaptic membrane proteins, mitochondria and prelysosomal organelles, but not with slow axonal transport cargoes such as cytoskeletal elements. Khc mutations also impair the development of larval motor axon terminals, causing dystrophic morphology and marked reductions in synaptic bouton numbers. These observations suggest that as the concentration of maternally provided wild-type KHC decreases, axonal organelles transported ...
Sensory neuronopathies (SN) represent a subgroup of peripheral nervous system disorders which are becoming increasingly recognized. Despite a few reports of autonomic dysfunction, this complication has not been fully appreciated. Autonomic function w
Possible cell mechanisms of toxic diseases of neurons and myelinating cells are discussed based on principles of cell biology. The authors mention that neuronopathies and schwannopathies are considered to be diseases of the perikaryon process of the cell, resulting in protein synthesis shutdown and axonal death from cessation of material transport. Distal axonopathies are the most common type of n
Missense mutations (K141N and K141E) in the α-crystallin domain of the small heat shock protein HSPB8 (HSP22) cause distal hereditary motor neuropathy (distal HMN) or Charcot-Marie-Tooth neuropathy type 2L (CMT2L). The mechanism through which mutant HSPB8 leads to a specific motor neuron disease phenotype is currently unknown. To address this question, we compared the effect of mutant HSPB8 in primary neuronal and glial cell cultures. In motor neurons, expression of both HSPB8 K141N and K141E mutations clearly resulted in neurite degeneration, as manifested by a reduction in number of neurites per cell, as well as in a reduction in average length of the neurites. Furthermore, expression of the K141E (and to a lesser extent, K141N) mutation also induced spheroids in the neurites. We did not detect any signs of apoptosis in motor neurons, showing that mutant HSPB8 resulted in neurite degeneration without inducing neuronal death. While overt in motor neurons, these phenotypes were only very mildly ...
Also known as: Hexbtm1Rlp, Hexb KO mouse. Hexb KO mice develop motor defects beginning at about 3 months of age. The defects progressively worsen and homozygous mice die by 4.5 months of age. Mice display gangliosidosis; mice abnormally accumulate GM2 and GA2 ganglioside and serve as a model of Sandhoff disease. Learn more on PubMed.. Mice can be obtained from Jackson Labs.. ...
Reactome is pathway database which provides intuitive bioinformatics tools for the visualisation, interpretation and analysis of pathway knowledge.
In this particular case, RU486 essentially prevented gene upregulation (Cd44, Stat1, Ch25h and Il1b) or downregulation (C1qa and Hexb) by LPS ...
The infantile and juvenile forms of GM1 and GM2 gangliosidoses are neurodegenerative conditions that are lethal during childhood. There are no known effective therapies available for treatment of infantile and juvenile gangliosidoses. Studies of monotherapy with miglustat for treatment of these conditions have demonstrated safety, but have not demonstrated notable clinical improvement. To date, combination therapy for the infantile and juvenile gangliosidoses has not been explored. This study will evaluate a multi-targeted combination therapy for treatment of the gangliosidoses, using FDA approved therapies that have demonstrated safety in children. It is the aim of this study to learn if combination therapy using the Syner-G regimen (that is, synergistic enteral regimen for treatment of the gangliosidoses) will show improvement in overall survival and clinical benefits in neurodevelopmental abilities in children with gangliosidosis diseases.. This study is planned as a 5-year longitudinal ...
Beta-hexosaminidase subunit beta is an enzyme that in humans is encoded by the HEXB gene. Hexosaminidase B is the beta subunit of the lysosomal enzyme 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. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). The HEXB gene lies on the chromosome location of 5q13.3 and consists of 15 exons, spanning 35-40Kb. HEXB consists of 556 amino acid residues and weighs 63111Da. HEXB is one of the two subunits forming β-hexosaminidase which ...
We have generated mouse models of human Tay-Sachs and Sandhoff diseases by targeted disruption of the Hexa (α subunit) or Hexb (β subunit) genes, respectively, encoding lysosomal β-hexosaminidase A (structure, α) and B (structure, ββ). Both mutant mice accumulate GM2 ganglioside in brain, much more so in Hexb −/− mice, and the latter also accumulate glycolipid GA2. Hexa −/− mice suffer no obvious behavioral or neurological deficit, while Hexb −/− mice develop a fatal neurodegenerative disease, with spasticity, muscle weakness, rigidity, tremor and ataxia. The Hexb −/− but not the Hexa −/− mice have massive depletion of spinal cord axons as an apparent consequence of neuronal storage of GM2. We propose that Hexa −/− mice escape disease through partial catabolism of accumulated GM2 via GA2 (asialo-GM2) through the combined action of sialidase and β-hexosaminidase B.. ...
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Franklin for consultation services on the neuropathology and for making plates from his forthcoming A Stereotaxic Atlas of the Mouse Brain (K. Franklin and G. Paxinos, eds, Academic Press) accessible prior to publication, Mirielle. Shevell for help with the particular phenotype, L. Old for helping make the ganglioside analysis possible, B.. T, testis; E, epididymis; Lu, chest; Li, liver; K, renal; H, heart; B, mind; S, spleen. ES tissues in 800 µl associated with cold PBS using a Bio-Rad GenePulser (240V, five-hundred µF).. (C) plus (F) are from outdoors type, (A), (D) plus (G) from Hexa −/− and (B), (E) and (H) from Hexb −/− mice. (A) and (B) Electron micrographs of cortical neurons showing large clusters of MCB. Some lysosomes have membrane whorls.. In the particular kidney, the cytoplasm associated with epithelial cells lining the particular proximal tubules showed considerable vacuolation (Fig. 7H). Renal corpuscles, distal convoluted tubules and collecting ducts came out normal. ...
Gene therapy research for Tay-Sachs and Sandhoff disease is progressing with private funding.Dramatic video from the Tay-Sachs Gene Therapy Consortium of Tay-Sachs mice treated with gene therapy.
HEXB antibody (hexosaminidase B (beta polypeptide)) for ICC/IF, IHC-P, WB. Anti-HEXB pAb (GTX55224) is tested in Human samples. 100% Ab-Assurance.
chemBlink provides information about CAS # 52705-52-9, Hexa(acetato)m3-oxo-tris(aquo)triiridium acetate, molecular formula: C12H18Ir3O13.C2H3O2.3(H2O).
The HEXA gene is a protein encoding gene that codes for the lysosomal enzyme beta-hexosaminidase. This enzyme, combined with the GM2 activator protein, is responsible for the breakdown of ganglioside GM2 within the lysosome. Defects in the HEXA gene, however, prevent this degradation, leading to a buildup of toxins in brain and spinal cord cells. This fatal genetic disorder is called Tay-Sachs disease. Because the Tay-Sachs gene defect mainly affects neural cells, a patient with the HEXA mutation will experience a quick deterioration of motor and mental function before dying around the age of three or four. [8] A "knockout" model, which is a mouse that has been genetically modified to observe the effects of inactivation of or damage to certain genes, found that the mice that were administered the HEXA gene experienced many of the same symptoms of Tay-Sachs, with one exception: GM2 buildup was distributed differently in the brains of the mice than in those of a typical human Tay-Sachs patient. ...
Patients with late-onset Tay-Sachs or Sandhoff disease will be given increasing doses of Pyr, up to but not exceeding doses used to treat malaria, over a 5-month period. We will follow the effect of the treatment on the levels of Hex A enzyme activity in white blood cells, which are considered to be a reflection of the likely enzyme activity in the brain. We will also follow some other lysosomal enzyme activities to determine if the effect is specific for Hex A. Furthermore, we will examine the effect of the treatment on the levels of GM2-ganglioside in the white blood cells. On the basis of the studies done on cultured skin cells, we expect that treatment with Pyr will increase the levels of Hex A and decrease the accumulation of GM2-ganglioside in the white blood cells ...
Metabolic & Genetic Information Center Inborn erros of metabolism G(M2)-GANGLIOSIDOSIS: VARIANT 0, SANDHOFF DISEASE SANDHOFF DISEASE G(M2)-GANGLIOSIDOSIS WITH HEXOSAMINIDASE A AND B DEFICIENCY
Background The GM2 gangliosidoses are a group of lysosomal lipid storage disorders caused by mutations in at least 1 of 3 recessive genes: HEXA, HEXB, and GM2A. Normal products of all 3 genes are required for normal catabolism of the GM2 ganglioside substrate.
There are three types of Gaucher disease. These includes type I or adult form of Gaucher disease, type II or infantile form of Gaucher disease and type III or juvenile form of Gaucher disease.

HEXA - wikidocHEXA - wikidoc

Proia RL, Soravia E (April 1987). "Organization of the gene encoding the human beta-hexosaminidase alpha-chain". The Journal of ... Beta-galactosidase. Hexosaminidase A. Neuraminidase. Glucocerebrosidase. From globoside. Hexosaminidase B. Alpha-galactosidase ... Even though the alpha and beta subunits of hexosaminidase A can both cleave GalNAc residues, only the alpha subunit is able to ... The HEXA gene is a protein encoding gene that codes for the lysosomal enzyme beta-hexosaminidase. This enzyme, combined with ...
more infohttps://www.wikidoc.org/index.php/HEXA

Active site of hexosaminidases with dockedpNP-GlcNAc-su | Open-iActive site of hexosaminidases with dockedpNP-GlcNAc-su | Open-i

Active site of hexosaminidases with docked pNP-GlcNAc-sulfate 6 after molecular dynamics simulat ... Active site of hexosaminidases with dockedpNP-GlcNAc-sulfate 6. ... The induced fit shifted the positions of side chains of Arg 162 ... Fig9: Active site of hexosaminidases with dockedpNP-GlcNAc-sulfate 6. Active site of hexosaminidases with docked pNP-GlcNAc- ... Fig9: Active site of hexosaminidases with dockedpNP-GlcNAc-sulfate 6. Active site of hexosaminidases with docked pNP-GlcNAc- ...
more infohttps://openi.nlm.nih.gov/detailedresult.php?img=PMC4384365_12859_2015_465_Fig9_HTML&req=4

nagZ - Beta-hexosaminidase - Bordetella pertussis (strain Tohama I / ATCC BAA-589 / NCTC 13251) - nagZ gene & proteinnagZ - Beta-hexosaminidase - Bordetella pertussis (strain Tohama I / ATCC BAA-589 / NCTC 13251) - nagZ gene & protein

Plays a role in peptidoglycan recycling by cleaving the terminal beta-1,4-linked N-acetylglucosamine (GlcNAc) from peptide- ... help/chain target=_top>More...,/a>,/p>ChainiPRO_0000210783. 1 - 352. Beta-hexosaminidaseAdd BLAST. 352. ... IPR022956. Beta_hexosaminidase_bac. IPR019800. Glyco_hydro_3_AS. IPR001764. Glyco_hydro_3_N. IPR036962. Glyco_hydro_3_N_sf. ... IPR022956. Beta_hexosaminidase_bac. IPR019800. Glyco_hydro_3_AS. IPR001764. Glyco_hydro_3_N. IPR036962. Glyco_hydro_3_N_sf. ...
more infohttp://www.uniprot.org/uniprot/Q7VWV8

RCSB PDB 









- 1M01: Wildtype Streptomyces plicatus beta-hexosaminidase in complex with product (GlcNAc) Literature...RCSB PDB - 1M01: Wildtype Streptomyces plicatus beta-hexosaminidase in complex with product (GlcNAc) Literature...

Aspartate 313 in the Streptomyces plicatus hexosaminidase plays a critical role in substrate-assisted catalysis by orienting ... Chains. Name / Formula / InChI Key. 2D Diagram & Interactions. 3D Interactions. NAG Query on NAG Download SDF File ... Wildtype Streptomyces plicatus beta-hexosaminidase in complex with product (GlcNAc). *DOI: 10.2210/pdb1m01/pdb ... Beta-N-acetylhexosaminidase A 512 Streptomyces plicatus EC#: 3.2.1.52 IUBMB Gene Name(s): hex ...
more infohttp://www.rcsb.org/pdb/explore/litView.do?structureId=1M01

HEXA - WikipediaHEXA - Wikipedia

Proia RL, Soravia E (April 1987). "Organization of the gene encoding the human beta-hexosaminidase alpha-chain". The Journal of ... Hexosaminidase A is a heterodimer composed of an alpha subunit (this protein) and a beta subunit. The alpha subunit polypeptide ... Even though the alpha and beta subunits of hexosaminidase A can both cleave GalNAc residues, only the alpha subunit is able to ... Mark BL, Mahuran DJ, Cherney MM, Zhao D, Knapp S, James MN (April 2003). "Crystal structure of human beta-hexosaminidase B: ...
more infohttps://en.wikipedia.org/wiki/HEXA

Glycoside hydrolase family 20 - WikipediaGlycoside hydrolase family 20 - Wikipedia

... one beta-A and one beta-B chain; hexosaminidase B is a tetramer of two beta-A and two beta-B chains; and hexosaminidase S is a ... The two beta chains are derived from the cleavage of a precursor. Mutations in the beta-chain lead to Sandhoff disease, a ... substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme". ... There are 3 forms of beta-hexosaminidase: hexosaminidase A is a trimer, with one alpha, ...
more infohttps://en.wikipedia.org/wiki/Glycoside_hydrolase_family_20

Hexosaminidase A Deficiency - GeneReviews™ - NCBI BookshelfHexosaminidase A Deficiency - GeneReviews™ - NCBI Bookshelf

Normal gene product. HEXA encodes the alpha chain of the heterodimeric protein, beta-hexosaminidase A (HEX A), also called GM2 ... Beta-hexosaminidase A (HEX A) enzymatic activity. Affected individuals. The diagnosis of hexosaminidase A deficiency relies on ... A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease. J ... The HEX A protein comprises a single alpha chain and a single beta chain, which is encoded by HEXB. This isoenzyme cleaves the ...
more infohttps://web.archive.org/web/20140116030612/http:/www.ncbi.nlm.nih.gov/books/NBK1218/

HEXB - Beta-hexosaminidase subunit beta precursor - Felis catus (Cat) - HEXB gene & proteinHEXB - Beta-hexosaminidase subunit beta precursor - Felis catus (Cat) - HEXB gene & protein

... help/chain target=_top>More...,/a>,/p>ChainiPRO_0000012001. 25 - 531. Beta-hexosaminidase subunit betaAdd BLAST. 507. ... sp,P49614,HEXB_FELCA Beta-hexosaminidase subunit beta OS=Felis catus OX=9685 GN=HEXB PE=2 SV=2 ... IPR025705 Beta_hexosaminidase_sua/sub. IPR015883 Glyco_hydro_20_cat. IPR017853 Glycoside_hydrolase_SF. IPR029018 Hex-like_dom2 ... IPR025705 Beta_hexosaminidase_sua/sub. IPR015883 Glyco_hydro_20_cat. IPR017853 Glycoside_hydrolase_SF. IPR029018 Hex-like_dom2 ...
more infohttps://www.uniprot.org/uniprot/P49614

HEXA - WikipediaHEXA - Wikipedia

Proia RL, Soravia E (April 1987). "Organization of the gene encoding the human beta-hexosaminidase alpha-chain". The Journal of ... Even though the alpha and beta subunits of hexosaminidase A can both cleave GalNAc residues, only the alpha subunit is able to ... The HEXA gene is a protein encoding gene that codes for the lysosomal enzyme beta-hexosaminidase. This enzyme, combined with ... Nishimoto J, Tanaka A, Nanba E, Suzuki K (August 1991). "Expression of the beta-hexosaminidase alpha subunit gene with the four ...
more infohttps://en.m.wikipedia.org/wiki/HEXA

GM01675GM01675

Normal B-hexosaminidase A alpha and beta chains; cDNA and genomic DNA of the GM2 activator protein gene are homozygous for a T> ... Normal B-hexosaminidase A alpha and beta chains; cDNA and genomic DNA of the GM2 activator protein gene are homozygous for a T> ...
more infohttps://coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM01675&PgId=166

Plus itPlus it

LAMP1 and beta-hexosaminidase α and β subunits), as well as proteins directly implicated in antigen presentation (e.g. H2 class ... light chain 3. LTQ. linear trap quadrupole. MEF. mouse embryonic fibroblast. MHC. major histocompatibility complex. mRP-C18. ... proteasome subunit beta type-3). To our knowledge, the role of the MHC class I presentation machinery in displaying ... the internalization of microorganisms at sites of infection by macrophages proceeds via a sequential chain of events that leads ...
more infohttps://www.mcponline.org/content/12/9/2394

Miguel Sena-Esteves, PhD Publications - Horae Gene Therapy CenterMiguel Sena-Esteves, PhD Publications - Horae Gene Therapy Center

Retrovirus-mediated transfer and expression of beta-hexosaminidase alpha-chain cDNA in human fibroblasts from G(M2)- ... Correction of acid beta-galactosidase deficiency in GM1 gangliosidosis human fibroblasts by retrovirus vector-mediated gene ... Integration of active human beta-galactosidase gene (100 kb) into genome using HSV/AAV amplicon vector. Gene Ther. 2007 Jul;14( ... Mechanisms of distribution of mouse beta-galactosidase in the adult GM1-gangliosidosis brain. Gene Ther. 2009 Feb;16(2):303-8. ...
more infohttps://www.umassmed.edu/gtc/about/faculty-publications/miguel-sena-esteves/

Beta Hex Deficiency; Beta hexosaminidase deficiency. Patient | PatientBeta Hex Deficiency; Beta hexosaminidase deficiency. Patient | Patient

... hexosaminidase A and B deficiency. Information about Beta Hex Deficiency ... Beta Hex Deficiency is known as Sandhoffs disease, type II G M2 gangliosidosis, ... Where there are abnormal beta chains both hexosaminidase A and B will be affected. With combined enzyme deficiency, there is ... Cashman NR, Antel JP, Hancock LW, et al; N-acetyl-beta-hexosaminidase beta locus defect and juvenile motor neuron disease: a ...
more infohttps://patient.info/doctor/beta-hex-deficiency

1tjj - Proteopedia, life in 3D1tjj - Proteopedia, life in 3D

It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 ... The alkyl chains of PAF interact through van der Waals contacts, while the head groups bind in different environments with ... Categories: Human , Mi, L Z , Rastinejad, F , Wright, C S , Beta-cup topology , Lipid binding pocket , Platelet activating ... GM2GAB is characterized by GM2 gangliosides accumulation in the presence of both hexosaminidase A and B.[1] [2] [3] ...
more infohttp://proteopedia.org/wiki/index.php/1tjj

Structure Cluster 









- 1M03: Mutant Streptomyces plicatus beta-hexosaminidase (D313A) in complex with product (GlcNAc)...Structure Cluster - 1M03: Mutant Streptomyces plicatus beta-hexosaminidase (D313A) in complex with product (GlcNAc)...

Aspartate 313 in the Streptomyces plicatus hexosaminidase plays a critical role in substrate-assisted catalysis by orienting ... Can be either a SCOP ID (d,PDB ID,,Chains,,Domain ID,), ProteinDomainParser ID (PDP:,PDB ID,,Chains,,Domain ID,) *Title: ... Cov2: The coverage, or %, of aligned residues in chain 2. Table Info. The table is sorting is by P-value by default. Clicking ... Flexible structure alignment by chaining aligned fragment pairs allowing twists.. Bioinformatics vol.19 suppl. 2. ii246-ii255. ...
more infohttp://www.rcsb.org/pdb/explore/structureCluster.do?structureId=1M03

Human Metabolome Database: Showing metabocard for Ganglioside GM2 (d18:0/20:0) (HMDB0011900)Human Metabolome Database: Showing metabocard for Ganglioside GM2 (d18:0/20:0) (HMDB0011900)

G(M2) Ganglioside accumulates due to a deficiency of hexosaminidase A or B (beta-N-acetylhexosaminidase), or GM2 activator ... Gangliosides are more complex glycosphingolipids in which oligosaccharide chains containing N-acetylneuraminic acid (NeuNAc) ... It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 ... In all Gangliosides, the ceramide is linked through its C-1 to a beta-glucosyl residue, which, in turn, is bound to a beta- ...
more infohttp://www.hmdb.ca/metabolites/HMDB11900

Human Metabolome Database: Showing metabocard for Ganglioside GM2 (d18:0/23:0) (HMDB0011903)Human Metabolome Database: Showing metabocard for Ganglioside GM2 (d18:0/23:0) (HMDB0011903)

G(M2) Ganglioside accumulates due to a deficiency of hexosaminidase A or B (beta-N-acetylhexosaminidase), or GM2 activator ... Gangliosides are more complex glycosphingolipids in which oligosaccharide chains containing N-acetylneuraminic acid (NeuNAc) ... It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 ... In all Gangliosides, the ceramide is linked through its C-1 to a beta-glucosyl residue, which, in turn, is bound to a beta- ...
more infohttp://www.hmdb.ca/metabolites/HMDB11903

The Niemann-Pick type C2 protein loads isoglobotrihexosylceramide onto CD1d molecules and contributes to the thymic selection...The Niemann-Pick type C2 protein loads isoglobotrihexosylceramide onto CD1d molecules and contributes to the thymic selection...

The specificity of human N-acetyl-beta-D-hexosaminidases towards glycosphincolipids is determined by an activator protein. Adv ... S8; references 10, 29), and C8 and C18 acyl chains, respectively, were used in place of a C26 chain. The structures of iGb3 C8 ... CD1d endosomal trafficking is independently regulated by an intrinsic CD1d-encoded tyrosine motif and by the invariant chain. ... Selection and expansion of CD8alpha/alpha(1) T cell receptor alpha/beta(1) intestinal intraepithelial lymphocytes in the ...
more infohttp://jem.rupress.org/content/204/4/841

UniProtKB/SwissProt variant VAR 003241UniProtKB/SwissProt variant VAR 003241

Chain. 89 - 529. Beta-hexosaminidase subunit alpha. Alternative sequence. 361 - 529. Missing. In isoform 2.. ...
more infohttps://web.expasy.org/variant_pages/VAR_003241.html

qHLOP-4961qHLOP-4961

Beta-hexosaminidase beta chain precursor ER(G2) - 9.96E-02 (EISEVFPDQFIHLGGDEVEFK;FNVLHWHIVDDQSFPYQSITFPELSNK;GSYSLSHVYTPNDVR; ... RAC-beta serine/threonine-protein kinase Cyto(G2,GO); Nucl(GO) - 3.74E-02 (FYGAEIVSALEYLHSR;LPFYNQDHER;TLSPEAKSLLAGLLKK; ... Phosphorylase b kinase gamma catalytic chain, testis/liver isoform Cyto(G2,GO) - 5.90E-02 (LTAEQALQHPFFER;HLIDNCAFR;ATGHEFAVK; ... Isoform 1 of Long-chain-fatty-acid--CoA ligase 1 Mito(G1,MitoP2); ER(GO) 1.23E+01 (AELSLVFVDKPEK;AILEDMVR; ...
more infohttp://liverbase.hupo.org.cn/qHLOP-4961.jsp?PageNo=23

Search Articles | University of Toronto LibrariesSearch Articles | University of Toronto Libraries

... beta-Hexosaminidase beta Chain - metabolism , Gene Expression , Sandhoff Disease - genetics , Mice, Knockout , Inflammation - ... beta-Hexosaminidase beta Chain - genetics , Dependovirus - genetics , Inflammation - pathology , Injections, Intravenous , ... beta-hexosaminidase beta chain - genetics (1) 1 Filter by. Remove filter. beta-hexosaminidase beta chain - metabolism (1) 1 ... G gangliosidoses are severe neurodegenerative disorders resulting from a deficiency in β-hexosaminidase A activity and lacking ...
more infohttps://query.library.utoronto.ca/index.php/search/q?kw=Author:Altaleb,%20Naderah

Search Articles | University of Toronto LibrariesSearch Articles | University of Toronto Libraries

... beta-Hexosaminidase beta Chain - genetics , Genetic Therapy , Brain - diagnostic imaging , Tay-Sachs Disease - enzymology , ... beta-Hexosaminidase beta Chain - biosynthesis , Magnetic Resonance Imaging , Tay-Sachs Disease - diagnostic imaging , Animals ... beta-Hexosaminidase beta Chain - metabolism , Cats , Cerebral Cortex - enzymology , Nerve Degeneration - enzymology , ... beta-Hexosaminidase beta Chain - genetics , Encephalitis - therapy , Trigeminal Nerve - metabolism , Axonal Transport - ...
more infohttps://query.library.utoronto.ca/index.php/search/q?kw=SubjectTerms:FELINE%20SANDHOFF%20DISEASE

KAKEN - Research Projects | Basic studies of NAG isoenzymes from human uroreproductive organs (KAKENHI-PROJECT-02670717)KAKEN - Research Projects | Basic studies of NAG isoenzymes from human uroreproductive organs (KAKENHI-PROJECT-02670717)

... hexosaminidase C / sugar-chain structures / Hexosaminidase C / NAG A / 腎細胞癌 / NAG / ヒト精巣 / ヒト精漿 / ヒト前立腺肥大症組織 / レクチンアフィニティーカラム ... Publications] Yoshida,KI: Demonstration and some properties of N-acetyl-beta, D-hexosaminidase(HEX) C in human renal tissues ... The sugar-chain studies of NAGs using Con A and WGA lectin columns revealed that there were no significant difference between ... N-acetyl-beta, D-glucosaminidases(NAGs) from human seminal plasma, testes and renal tissues were purified and those
more infohttps://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-02670717/

esoravia - Translator - Italy | Freelanceresoravia - Translator - Italy | Freelancer

Organization of the gene encoding the human Beta Hexosaminidase a-Chain. Journal of Biological Chemistry 262, 5677, 1987 3) [ ... National Institutes of Health, Bethesda, Maryland U.S.A. Cloning and characterization of genes encoding for a and b chains of ... human b-Hexosaminidase. 1988-1989 Visiting Research Associate, Human Genetic Branch, National Institute of Child Health and ... Organization of the gene encoding the human Beta Hexosaminidase a-Chain. Journal of Biological Chemistry 262, 5677, 1987 3) [ ...
more infohttps://www.fi.freelancer.com/u/esoravia
  • Active site of hexosaminidases with docked pNP-GlcNAc-sulfate 6 after molecular dynamics simulation with shown residues at the distance less than 0.3 nm from the sulfate group of the substrate. (nih.gov)
  • In the beginning of the simulation of hexosaminidase from S. plicatus the binding energy of uronate 5 was favorable, however, during the simulation the interaction with catalytic Asp 313 and Glu 314 residues was lost. (nih.gov)
  • In case of the sulfated substrate 6 docking into the active site of hexosaminidase from S. plicatus was successful only when applying flexibility to the amino acid residues. (nih.gov)
  • The induced fit shifted the positions of side chains of Arg 162, Asp 395, Glu 444 and catalytic Asp 313 and Glu 314 to accommodate the sulfo-group (Figure 8). (nih.gov)
  • Moreover, docking in combination with consequent molecular dynamics simulations of C-6 modified glycosides enabled us to identify the structural features required for accommodation and processing of these bulky substrates in the active site of hexosaminidase from T. flavus. (nih.gov)
  • a polypeptide of 11,600 Da that forms the light chain of class 1 major histocompatibility antigens and can therefore be detected on all cells bearing these antigens. (thefreedictionary.com)
  • One study, done on mice, successfully reestablished beta-hexoaminidase levels and removed the toxic cell buildup by using a non-replicated Herpes simplex vector to code for the missing gene. (wikipedia.org)
  • Cloning of human beta-microglobulin gene and its high expression in Escherichia coli. (thefreedictionary.com)
  • For example, sickle-cell disease is caused by a single point mutation (a missense mutation) in the beta- hemoglobin gene that converts a GAG codon into GUG, which encodes the amino acid valine rather than glutamic acid . (bioscience.ws)
  • Loop 2 in the vicinity of the sulfate is marked by yellow dots: A. S. plicatus hexosaminidase B. TfHex. (nih.gov)
  • In the beginning of the simulation of hexosaminidase from S. plicatus the binding energy of uronate 5 was favorable, however, during the simulation the interaction with catalytic Asp 313 and Glu 314 residues was lost. (nih.gov)
  • In case of the sulfated substrate 6 docking into the active site of hexosaminidase from S. plicatus was successful only when applying flexibility to the amino acid residues. (nih.gov)
  • Tay-Sachs disease occurs when hexosaminidase A loses its ability to function. (wikipedia.org)
  • Although compound heterozygosity as a cause of genetic disease had been suspected much earlier, widespread confirmation of the phenomenon was not feasible until the 1980s, when polymerase chain reaction techniques for amplification of DNA made it cost-effective to sequence genes and identify polymorphic alleles. (wikipedia.org)
  • Plays a role in peptidoglycan recycling by cleaving the terminal beta-1,4-linked N-acetylglucosamine (GlcNAc) from peptide-linked peptidoglycan fragments, giving rise to free GlcNAc, anhydro-N-acetylmuramic acid and anhydro-N-acetylmuramic acid-linked peptides. (uniprot.org)
  • Analysis of organic acids after incubation with (16-2H3)palmitic acid in fibroblasts from patients with mitochondrial beta-oxidation defects. (thefreedictionary.com)
  • Beta-hexosaminidase (HEX) cleaves the terminal N-acetyl galactosamine (GalNAc) from glucosaminoglycans (GAGs) and any other molecules containing a terminal GalNAc. (reactome.org)
  • 1991. Association between urinary N-acetyl-beta-glucosaminidase and its isoenzyme patterns and microangiopathy in type 1 Diabetes Mellitus. (freepatentsonline.com)
  • To reduce the number of hits, a 40% sequence identity clustering has been applied and a representative chain taken from each cluster. (rcsb.org)
  • It is represented by chain 3SUV.A which has more than 40% sequence identity. (rcsb.org)
  • DNA sequence analysis revealed that, contrary to expectation, two different TSD alleles are present in the Cajun population: a {dollar}\beta{dollar}-hexosaminidase A {dollar}\alpha{dollar}-chain exon 11 insertion which is common among Jewish TSD carriers and an mRNA-negative allele which has not been described previously. (umaryland.edu)
  • Primary sequence analysis revealed some variable regions able to influence difference in substrate affinity of hexosaminidases. (nih.gov)
  • Diminished carnitine reserves in muscle of obese rats was accompanied by marked perturbations in mitochondrial fuel metabolism, including low rates of complete fatty acid oxidation, elevated incomplete beta-oxidation , and impaired substrate switching from fatty acid to pyruvate. (thefreedictionary.com)
  • In brief, medium to long chain fatty acids such as lauric acid are monohydroxylated by the cytochrome P450 CYP703A2, and modified to form fatty acyl CoA esters by ACYL COA SYNTHE TASE5 in tapetal cells. (checkpointsignaling.com)
  • Adrenoleukodystrophy (ALD) is an X-linked inherited metabolic peroxisomal disorder characterised by a lack of oxidation of very long chain fatty acids (VLCFAs) that results in severe inflammatory demyelination of the periventricular deep white matter with posterior-predominant pattern and early involvement of the splenium of the corpus callosum and parietal white matter changes. (radiopaedia.org)
  • In comparison, the presence of: multiple small intracellular lipid droplets with an undisplaced nucleus generally defines microvesicular steatosis, which has been thought to result from impaired mitochondrial beta-oxidation of fatty acids, Dr. (thefreedictionary.com)
  • Glycolipids are complex molecules consisting of a ceramide lipid moiety linked to a glycan chain of variable length and structure. (frontiersin.org)
  • The main endogenous self-glycolipid that, once bound to CD1d, selects canonical Vα14 NKT cells was recently identified as iGb3, a sphingolipid that is produced in small quantities by iGb3 synthases and mainly by the degradation of isoglobotetrahexosylceramide by glycosidase β-hexosaminidase b, as illustrated by the absence of Vα14 NKT cells in hexosaminidase b-deficient mice ( 10 , 15 ). (rupress.org)
  • synthetic polyribonucleotides RNA molecules made without a nucleic acid template, either by en- zyme action or chemical synthesis. (damasgate.com)
  • The therapeutic effect of EAS on PD may involve in regulating the tyrosine metabolism, mitochondrial beta-oxidation of long chain saturated fatty acids, fatty acid metabolism, methionine metabolism, and sphingolipid metabolism. (thefreedictionary.com)
  • Mitochondrial long chain fatty acid beta-oxidation in man and mouse. (thefreedictionary.com)
  • The alkyl chains of PAF interact through van der Waals' contacts, while the head groups bind in different environments with their phosphocholine moieties in contact with aromatic rings (Y137, F80). (proteopedia.org)