AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesInformation Science
GangliosidosesLipidosesHexosaminidase AHexosaminidase BHexosaminidasesbeta-N-AcetylhexosaminidasesTay-Sachs DiseaseG(M2) GangliosideSandhoff DiseaseG(M2) Activator ProteinAcetylglucosaminidaseInterleukin-1betaChromosomes, Human, 4-5Sphingolipid Activator Proteinsbeta 2-MicroglobulinMolecular Sequence DataHymecromoneIsoenzymesGangliosidoses, GM2Electrophoresis, Starch GelAmino Acid SequenceReceptors, Adrenergic, betaIntegrin beta3SaposinsChromosomes, Human, 13-15Polymerase Chain ReactionMacromolecular SubstancesAcetylglucosamineBase SequenceKineticsCell LineLysosomesReceptors, Antigen, T-Cell, alpha-betaHeterozygote DetectionTransforming Growth Factor betaCells, CulturedIsoelectric FocusingMolecular WeightProtein ConformationRNA, MessengerElectrophoresis, Polyacrylamide GelHemoglobins, AbnormalMutationIntegrin alpha5beta1Integrin beta4Integrin beta ChainsMuramic AcidsBordetella pertussisPeptidoglycanBordetellaMaackiaSambucus nigra
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.
Muramic Acids
Compounds consisting of glucosamine and lactate joined by an ether linkage. They occur naturally as N-acetyl derivatives in peptidoglycan, the characteristic polysaccharide composing bacterial cell walls. (From Dorland, 28th ed)
Bordetella pertussis
A species of gram-negative, aerobic bacteria that is the causative agent of WHOOPING COUGH. Its cells are minute coccobacilli that are surrounded by a slime sheath.
Peptidoglycan
Bordetella
A genus of gram-negative, aerobic bacteria whose cells are minute coccobacilli. It consists of both parasitic and pathogenic species.
Maackia
A plant genus of the family FABACEAE. It contains a hemagglutinin.
Sambucus nigra
A plant species in the genus SAMBUCUS, known for the elderberry fruit. The plant is also a source of Sambucus nigra lectins and ribosome-inactivating protein.

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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Kinesin Mutations Cause Motor Neuron Disease Phenotypes by Disrupting Fast Axonal Transport in Drosophila | GeneticsKinesin Mutations Cause Motor Neuron Disease Phenotypes by Disrupting Fast Axonal Transport in Drosophila | Genetics
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 ...
https://www.genetics.org/content/144/3/1075
Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset. - Murdoch Childrens Research InstituteGenetic axonal neuropathies and neuronopathies of pre-natal and infantile onset. - Murdoch Childrens Research Institute
Yiu EM, Ryan MM. Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset. Journal of the peripheral nervous system : JPNS 17 (3) : 285 - 300(2012) PubMed ...
https://www.mcri.edu.au/publications/genetic-axonal-neuropathies-and-neuronopathies-pre-natal-and-infantile-onset
Autonomic dysfunction in non-paraneoplastic sensory neuronopathy: beyond sensory abnormalities.Autonomic dysfunction in non-paraneoplastic sensory neuronopathy: beyond sensory abnormalities.
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
http://www.biomedsearch.com/nih/Autonomic-dysfunction-in-non-paraneoplastic/20820798.html
NIOSHTIC-2 Publications Search - 00091808 - Neurotoxic chemicals as probes of cellular mechanisms of neuromuscular disease.NIOSHTIC-2 Publications Search - 00091808 - Neurotoxic chemicals as probes of cellular mechanisms of neuromuscular disease.
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
https://www.cdc.gov/niosh/nioshtic-2/00091808.html
Mutant HSPB8 causes motor neuron-specific neurite degeneration : Human Molecular Genetics - oiMutant HSPB8 causes motor neuron-specific neurite degeneration : Human Molecular Genetics - oi
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 ...
http://oxfordindex.oup.com/view/10.1093/hmg/ddq234
Reactome | HEXB(315-556) [extracellular region]Reactome | HEXB(315-556) [extracellular region]
Reactome is pathway database which provides intuitive bioinformatics tools for the visualisation, interpretation and analysis of pathway knowledge.
http://www.reactome.org/content/detail/R-HSA-6806188
Sandhoff Disease Mouse | NIDDKSandhoff Disease Mouse | NIDDK
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.. ...
https://www.niddk.nih.gov/research-funding/technology-advancement-transfer/research-materials-licensing/sandhoff-disease-mouse
Hexb - Beta-hexosaminidase subunit beta precursor - Mus musculus (Mouse) - Hexb gene & proteinHexb - Beta-hexosaminidase subunit beta precursor - Mus musculus (Mouse) - Hexb gene & protein
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. The isozyme B does not hydrolyze each of these substrates, however hydrolyzes efficiently neutral oligosaccharide. Only the isozyme A is responsible for the degradation of GM2 gangliosides in the presence of GM2A.
https://www.uniprot.org/uniprot/P20060
Reactome | HEXB cleaves the terminal GalNAc from DSReactome | HEXB cleaves the terminal GalNAc from DS
Reactome is pathway database which provides intuitive bioinformatics tools for the visualisation, interpretation and analysis of pathway knowledge.
https://reactome.org/content/detail/R-HSA-9638075
INT204899 - wiki-painINT204899 - wiki-pain
In this particular case, RU486 essentially prevented gene upregulation (Cd44, Stat1, Ch25h and Il1b) or downregulation (C1qa and Hexb) by LPS ...
http://gnteam.cs.manchester.ac.uk/demos/wiki-pain/vhosts/wikipaints/mediawiki-1.19.1/index.php/INT204899
Synergistic Enteral Regimen for Treatment of the Gangliosidoses - Full Text View - ClinicalTrials.govSynergistic Enteral Regimen for Treatment of the Gangliosidoses - Full Text View - ClinicalTrials.gov
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 ...
https://clinicaltrials.gov/ct2/show/NCT02030015?term=Tay-Sachs+Disease&rank=6
Hexb - Beta-hexosaminidase subunit beta precursor - Rattus norvegicus (Rat) - Hexb gene & proteinHexb - Beta-hexosaminidase subunit beta precursor - Rattus norvegicus (Rat) - Hexb gene & protein
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. The isozyme B does not hydrolyze each of these substrates, however hydrolyzes efficiently neutral oligosaccharide. Only the isozyme A is responsible for the degradation of GM2 gangliosides in the presence of GM2A (By similarity). During fertilization is responsible, at least in part, for the zona block to polyspermy. Present in the cortical granules of non-activated oocytes, is exocytosed during the cortical reaction in response to oocyte activation and inactivates the sperm galactosyltransferase-binding site, accounting for the block in sperm binding to the zona pellucida (By similarity).
https://www.uniprot.org/uniprot/Q6AXR4
N-butyldeoxygalactonojirimycin reduces brain ganglioside and GM2 content in neonatal Sandhoff disease mice. - ImmunologyN-butyldeoxygalactonojirimycin reduces brain ganglioside and GM2 content in neonatal Sandhoff disease mice. - Immunology
Sandhoff disease involves the CNS accumulation of ganglioside GM2 and asialo-GM2 (GA2) due to inherited defects in the beta-subunit gene of beta-hexosaminidase A and B (Hexb gene). Accumulation of these glycosphingolipids (GSLs) produces progressive neurodegeneration, ultimately leading to death. Substrate reduction therapy (SRT) aims to decrease the rate of glycosphingolipid (GSL) biosynthesis to compensate for the impaired rate of catabolism. The imino sugar, N-butyldeoxygalactonojirimycin (NB-DGJ) inhibits the first committed step in GSL biosynthesis. NB-DGJ treatment, administered from postnatal day 2 (p-2) to p-5 (600 mg/kg/day)), significantly reduced total brain ganglioside and GM2 content in the Sandhoff disease (Hexb(-/-)) mice, but did not reduce the content of GA2. We also found that NB-DGJ treatment caused a slight, but significant elevation in brain sialidase activity. The drug had no adverse effects on viability, body weight, brain weight, or brain water content in the mice. No significant
https://www.immunology.ox.ac.uk/publications/185359
The Gangliosidoses | SpringerLinkThe Gangliosidoses | SpringerLink
The history of so-called storage diseases goes back to the end of the 19th and to the beginning of the 20th century when Fabry, Tay, Sachs, Gaucher, Niemann, Hunter, and Hurler first described the dis
https://link.springer.com/book/10.1007%2F978-1-4615-8726-2
In situ Imaging of the Mouse Thymus Using 2-Photon Microscopy | Protocol (Translated to Dutch)In situ Imaging of the Mouse Thymus Using 2-Photon Microscopy | Protocol (Translated to Dutch)
We presenteren stap-voor-stap instructies voor het genereren van neonatale hersenschimmen, alsmede de dissectie en voorbereiding van de ...
https://www.jove.com/v/652?language=Dutch
Inverter Circuit for Motor Drive Systems - File Exchange - MATLAB CentralInverter Circuit for Motor Drive Systems - File Exchange - MATLAB Central
This submission contains the files of chapter 7 in Digital Twin Development and Deployment on the Cloud Elsevier, 2020, Nassim Khaled, Bibin Pattel and Affan Siddiqui. Website for the book and other resources: https://www.practicalmpc.com/digital-twins ...
https://www.mathworks.com/matlabcentral/fileexchange/75225-inverter-circuit-for-motor-drive-systems?s_tid=prof_contriblnk
HEXB - WikipediaHEXB - Wikipedia
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 ...
https://en.wikipedia.org/wiki/HEXB
Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases : Human Molecular Genetics - oiDramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases : Human Molecular Genetics - oi
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.. ...
http://oxfordindex.oup.com/view/10.1093/hmg/5.1.1
Tay-Sachs Disease and Sandhoff Disease - Childrens Health Issues - MSD Manual Consumer VersionTay-Sachs Disease and Sandhoff Disease - Childrens Health Issues - MSD Manual Consumer Version
Tay-Sachs Disease and Sandhoff Disease - Learn about the causes, symptoms, diagnosis & treatment from the MSD Manuals - Medical Consumer Version.
https://www.msdmanuals.com/en-pt/home/children-s-health-issues/hereditary-metabolic-disorders/tay-sachs-disease-and-sandhoff-disease
Tay-Sachs Disease and Sandhoff Disease - Childrens Health Issues - MSD Manual Consumer VersionTay-Sachs Disease and Sandhoff Disease - Childrens Health Issues - MSD Manual Consumer Version
Tay-Sachs Disease and Sandhoff Disease - Learn about the causes, symptoms, diagnosis & treatment from the MSD Manuals - Medical Consumer Version.
https://www.msdmanuals.com/home/children-s-health-issues/hereditary-metabolic-disorders/tay-sachs-disease-and-sandhoff-disease
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Utsav Hexa(18g) Agarbatti - Hari Darshan India Official Website- Shop Online for Agarbathi, Dhoop, Chandan Tika, Havan Samagri...Utsav Hexa(18g) Agarbatti - Hari Darshan India Official Website- Shop Online for Agarbathi, Dhoop, Chandan Tika, Havan Samagri...
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Sandhoff Disease Information Page | National Institute of Neurological Disorders and StrokeSandhoff Disease Information Page | National Institute of Neurological Disorders and Stroke
Sandhoff disease is a rare, inherited lipid storage disorder that progressively destroys nerve cells in the brain and spinal cord. It is caused by a deficiency of the enzyme beta-hexosaminidase, which results in the harmful accumulation of certain fats (lipids) in the brain and other organs of the body. Sandhoff disease is a severe form of Tay-Sachs disease, the incidence of which had been particularly high in people of Eastern European and Ashkenazi Jewish descent, but Sandhoff disease is not limited to any ethnic group. Each parent must carry the defective gene and pass it on to the child. Individuals who carry only one copy of the mutated gene typically do not show signs and symptoms of the disorder. Onset of the disorder usually occurs at 6 months of age. Symptoms may include:. ...
https://www.ninds.nih.gov/disorders/all-disorders/sandhoff-disease-information-page
Dramatically Different Phenotypes in Computer mouse Models of Human Tay-Sachs and Sandhoff Diseases | Sonic Cures For HeartburnDramatically Different Phenotypes in Computer mouse Models of Human Tay-Sachs and Sandhoff Diseases | Sonic Cures For Heartburn
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. ...
https://sonicusers.com/dramatically-different-phenotypes-in-computer-mouse-models-of-human-tay-sachs-and-sandhoff-diseases/
Gene Therapy MiraclesGene Therapy Miracles
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.
http://www.projectshui.com/GeneTherapyTaySachsSandhoff.html
anti-HEXB antibody | GeneTexanti-HEXB antibody | GeneTex
HEXB antibody (hexosaminidase B (beta polypeptide)) for ICC/IF, IHC-P, WB. Anti-HEXB pAb (GTX55224) is tested in Human samples. 100% Ab-Assurance.
http://www.genetex.com/HEXB-antibody-GTX55224.html
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NSAIDs increase survival in the Sandhoff disease mouse: synergy with N-butyldeoxynojirimycin. - Department of PharmacologyNSAIDs increase survival in the Sandhoff disease mouse: synergy with N-butyldeoxynojirimycin. - Department of Pharmacology
The GM2 gangliosidoses are caused by incomplete catabolism of GM2 ganglioside in the lysosome, leading to progressive storage and a neurodegenerative clinical course. An inflammatory response (microglial activation, macrophage infiltration, oxidative damage) has been found to be a consequence of GM2 storage in the brain, although it remains unclear whether this contributes to pathogenesis or disease progression. In this study, we treated Sandhoff disease mice with nonsteroidal antiinflammatory drugs (indomethacin, aspirin, and ibuprofen) and antioxidants (L-ascorbic acid and alpha-tocopherol acetate). The treated mice lived significantly longer than untreated littermates (12-23%, p |0.0001) and showed a slower rate of disease progression (p |0.001). When aspirin treatment was combined with substrate reduction therapy, synergy resulted (11%, p |0.05) with a maximum improvement of 73% in survival (p |0.00001). This study demonstrates that inflammation contributes to disease progression and identifies
https://www.pharm.ox.ac.uk/publications/101174
HEXA - wikidocHEXA - wikidoc
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. ...
https://www.wikidoc.org/index.php/HEXA
Ring the Games! | Hexa Fever SummerRing the Games! | Hexa Fever Summer
Hexa Fever Summer is the latest version of the popular puzzle game Hexa Fever. In this strategic addictive game, you have to fill the lines of the hexagon with blocks to remove the whole line and gain gems. Like in the original Hexa Fever, you can form either a horizontal or a vertical line. Always think about your next move and pay close attention not to fill the whole board as you will lose if there is not enough space to place any more blocks. If you are ever stuck, use your gems to buy boosters to remove blocks from the hexagon board or to change the figures. Play Hexa Fever Summer now for free at SOFTGAMES and enjoy this addictive puzzle game before the summer is over!. ...
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HEXA reflect on recurring dreams with Material IntersticesHEXA reflect on recurring dreams with Material Interstices
Lawrence English and Xiu Xius Jamie Stewart come together as HEXA for a project inspired by a recurring dream from Englishs childhood.
https://www.factmag.com/2021/07/17/hexa-material-interstices/
Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease) - Full Text View -...Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease) - Full Text View -...
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 ...
https://clinicaltrials.gov/ct2/show/NCT01102686?term=Tay+Sachs&rank=3
GM2GANGLIOSIDOSISVARIANT0SANDHOFFDISEASEGM2GANGLIOSIDOSISVARIANT0SANDHOFFDISEASE
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
http://www.metagene.de/disease/GM2GANGLIOSIDOSISVARIANT0SANDHOFFDISEASE_146.html
GM2 Gangliosidoses: Introduction And Epidemiology, Tay-Sachs Disease - GM2 Gangliosidosis Type I, Type III, Chronic, And B1...GM2 Gangliosidoses: Introduction And Epidemiology, Tay-Sachs Disease - GM2 Gangliosidosis Type I, Type III, Chronic, And B1...
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.
https://emedicine.medscape.com/article/951943-overview
HEXA - WikipediaHEXA - Wikipedia
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. ...
https://en.m.wikipedia.org/wiki/HEXA
Hexa Fever - Prongo.comHexa Fever - Prongo.com
Hexa Fever is a highly addictive strategic puzzle game. Like in Tetris or 2020 the player has to place blocks and fill lines to make these blocks disappear and score points. In Tetris the player could only form horizontal lines and 2020 added vertical lines to the genre. In Hexa Fever the board is a hexagram. This means you can form even more different lines and create even more combos. Since the opportunities are endless you should always take your time to think about your next move as the game will be lost if no more blocks can be placed on the board.Play Hexa Fever now for free and compete with your friends for the best score!. ...
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What Is Biochemistry - Gaucher Disease - MedicalrealmWhat Is Biochemistry - Gaucher Disease - Medicalrealm
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.
http://www.medicalrealm.net/what-is-biochemistry---gaucher-disease.html
HEXAHEXA
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: ...
https://en.wikipedia.org/wiki/HEXA
Glycoside hydrolase family 20Glycoside 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, ...
https://en.wikipedia.org/wiki/Glycoside_hydrolase_family_20
Compound heterozygosityCompound 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 ...
https://en.wikipedia.org/wiki/Compound_heterozygosity
Point mutationPoint 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 ...
https://en.wikipedia.org/wiki/Point_mutation
HEXAHEXA
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 ...
https://en.m.wikipedia.org/wiki/HEXA
Tay-Sachs diseaseTay-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". ... Total hexosaminidase enzyme activity is decreased in individuals with Tay-Sachs as is the percentage of hexosaminidase A. After ... Tay-Sachs disease is caused by insufficient activity of the enzyme hexosaminidase A. Hexosaminidase A is a vital hydrolytic ...
https://en.wikipedia.org/wiki/Tay–Sachs_disease
HEXBHEXB
"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 ...
https://en.wikipedia.org/wiki/HEXB
Mast cellMast 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). FcεR1 is a high affinity IgE-receptor that is ... 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 ...
https://en.wikipedia.org/wiki/Mast_cell
List of diseases (H)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 ...
https://en.wikipedia.org/wiki/List_of_diseases_(H)
Prevention of Tay-Sachs diseasePrevention 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 ...
https://en.wikipedia.org/wiki/Prevention_of_Tay–Sachs_disease
Dispersin BDispersin 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- ...
https://en.wikipedia.org/wiki/Dispersin_B
GlycoproteinGlycoprotein
... 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.[4] ... 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. ...
https://en.wikipedia.org/wiki/Glycoprotein
List of MeSH codes (D08)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 - glucan ... 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-cellobiosidase MeSH D08.811.277.450.420.200.450 - endo-1,3(4)-beta-glucanase MeSH D08.811.277.450.420.200.500 - glucan 1 ...
https://en.wikipedia.org/wiki/List_of_MeSH_codes_(D08)
GangliosideGanglioside
... 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 ...
https://en.wikipedia.org/wiki/Ganglioside
NeuraminidaseNeuraminidase
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. ...
https://en.wikipedia.org/wiki/Neuraminidase
EnzymeEnzyme
As a result, the substrate does not simply bind to a rigid active site; the amino acid side-chains that make up the active site ... For example, bacteria may become resistant to antibiotics such as penicillin because enzymes called beta-lactamases are induced ... in which patients lack the enzyme hexosaminidase. One example of enzyme deficiency is the most common type of phenylketonuria. ... Faergeman NJ, Knudsen J (April 1997). "Role of long-chain fatty acyl-CoA esters in the regulation of metabolism and in cell ...
https://en.wikipedia.org/wiki/Enzyme
BiofilmBiofilm
"Detachment of Actinobacillus actinomycetemcomitans biofilm cells by an endogenous beta-hexosaminidase activity". Journal of ... Biofilms are important components of food chains in rivers and streams and are grazed by the aquatic invertebrates upon which ...
https://en.wikipedia.org/wiki/Biofilm
O-GlcNAcO-GlcNAc
"Glucose Stimulates Protein Modification by O-linked GlcNAc in Pancreatic Beta Cells: Linkage of O-linked GlcNAc to Beta Cell ... As alanine's side chain is a methyl group and is thus not able to act as an O-GlcNAc site, this mutation effectively ... As PUGNAc also inhibits lysosomal β-hexosaminidases, the OGA-selective inhibitor NButGT was developed to further probe the ... The modification is characterized by a β-glycosidic bond between the hydroxyl group of serine or threonine side chains and N- ...
https://en.wikipedia.org/wiki/O-GlcNAc
Cathepsin DCathepsin 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, ...
https://en.wikipedia.org/wiki/Cathepsin_D
Glycoside hydrolaseGlycoside hydrolase
One of the important occurrences of glycoside hydrolases in bacteria is the enzyme beta-galactosidase (LacZ), which is involved ... of an oligo/polysaccharide chain. Glycoside hydrolases may also be classified by sequence or structure based methods.[4] ...
https://en.wikipedia.org/wiki/Glycoside_hydrolase
CellulaseCellulase
... beta-1,4-glucanase, beta-1,4-endoglucan hydrolase, endoglucanase D, 1,4-(1,3,1,4)-beta-D-glucan 4-glucanohydrolase), ... Exocellulases or cellobiohydrolases (EC 3.2.1.91) cleave two to four units from the ends of the exposed chains produced by ... Separation and characterization of cellulases and beta-glucosidases". The Biochemical Journal. 177 (1): 9-19. doi:10.1042/ ... The specific reaction involved is the hydrolysis of the 1,4-beta-D-glycosidic linkages in cellulose, hemicellulose, lichenin, ...
https://en.wikipedia.org/wiki/Cellulase
AmylaseAmylase
By acting at random locations along the starch chain, α-amylase breaks down long-chain saccharides, ultimately yielding either ... Different temperatures optimize the activity of alpha or beta amylase, resulting in different mixtures of fermentable and ...
https://en.wikipedia.org/wiki/E1100
OligosaccharyltransferaseOligosaccharyltransferase
"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 ...
https://en.wikipedia.org/wiki/Oligosaccharyltransferase
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. ...
http://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 ...
http://www.rcsb.org/pdb/explore/litView.do?structureId=1M01
Biofilms 2003: Emerging Themes and Challenges in Studies of Surface-Associated Microbial Life | Journal of BacteriologyBiofilms 2003: Emerging Themes and Challenges in Studies of Surface-Associated Microbial Life | Journal of Bacteriology
Detachment of Actinobacillus actinomycetemcomitans biofilm cells by an endogenous beta-hexosaminidase activity. J. Bacteriol. ... Functions required for dispersion were related to lipopolysaccharide O-side-chain biosynthesis; PtsI, a regulator of sugar ... a beta-hexosaminidase. Alfred Spormann described genetic elements involved in biofilm detachment for the Fe- and Mn-reducing ... Joint tolerance to beta-lactam and fluoroquinolone antibiotics in Escherichia coli results from overexpression of hipA. ...
https://jb.asm.org/content/186/14/4427?ijkey=fc2c575e363e00cb6ad6c6a1c52836c53cd709ec&keytype2=tf_ipsecsha
RCSB PDB - 5UTR: Crystal structure of Burkholderia cenocepacia family 3 glycoside hydrolase (NagZ) bound to (3S,4R,5R,6S)-3...RCSB PDB - 5UTR: Crystal structure of Burkholderia cenocepacia family 3 glycoside hydrolase (NagZ) bound to (3S,4R,5R,6S)-3...
Chains. Sequence Length. Organism. Details. Beta-hexosaminidase. A, B. 350. Burkholderia cenocepacia. Mutation(s): 0 Gene Names ... Conformational flexibility of the glycosidase NagZ allows it to bind structurally diverse inhibitors to suppress beta-lactam ...
https://www.rcsb.org/structure/5utr
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: ...
https://en.wikipedia.org/wiki/HEXA
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 ...
https://web.archive.org/web/20140116030612/http:/www.ncbi.nlm.nih.gov/books/NBK1218/
Preimplantation Diagnosis for Mendelian Disorders | GLOWMPreimplantation Diagnosis for Mendelian Disorders | GLOWM
Beta-hexosaminidase alpha chain [precursor]. 15q23-q24 Torsion dystonia 1, autosomal dominant; DYT1. 128100. AD. DYT1. Torsin A ... Haemoglobin-beta locus; HBB. 141900. AR. HBB. Haemoglobin beta chain. 11p15.5. Hemophagocytic lymphohistiocytosis, familial, 2 ... Haemoglobin beta chain. 11p15.5. Smith−Lemli−Opitz syndrome; SLOS. 270400. AR. DHCR7. 7-Dehydrocholesterol reductase. 11q12-q13 ... Beta-hexosaminidase beta chain [precursor]. 5 q13. Sickle cell anaemia. 603903. AR. HBB. ...
https://www.glowm.com/section-view/heading/Preimplantation%20Diagnosis%20for%20Mendelian%20Disorders/item/372
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 ...
https://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> ...
https://coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM01675&PgId=166
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, ...
https://en.wikipedia.org/wiki/Glycoside_hydrolase_family_20
Hexb - Beta-hexosaminidase subunit beta precursor - Mus musculus (Mouse) - Hexb gene & proteinHexb - Beta-hexosaminidase subunit beta precursor - Mus musculus (Mouse) - Hexb gene & protein
... help/chain target=_top>More...,/a>,/p>ChainiPRO_0000012006. 32 - 536. Beta-hexosaminidase subunit betaAdd BLAST. 505. ... chain A and B); hexosaminidase B is an homodimer of two beta subunits (two chains A and B); hexosaminidase S is a homodimer of ... There are 3 forms of beta-hexosaminidase: hexosaminidase A is an heterodimer composed of one subunit alpha and one subunit beta ... CPX-689, Beta-hexosaminidase A complex. CPX-690, Beta-hexosaminidase B complex. ...
https://www.uniprot.org/uniprot/P20060
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 ...
https://www.wikidoc.org/index.php/HEXA
Differential analysis of mutations in the Jewish population and their implications for diseases | Genetics Research | Cambridge...Differential analysis of mutations in the Jewish population and their implications for diseases | Genetics Research | Cambridge...
... major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase. ...
https://www.cambridge.org/core/journals/genetics-research/article/differential-analysis-of-mutations-in-the-jewish-population-and-their-implications-for-diseases/47602503E378F9E5F5BDAE34033B52F8
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 ...
https://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. ...
https://www.umassmed.edu/gtc/about/faculty-publications/miguel-sena-esteves/
HEXA Gene - GeneCards | HEXA Protein | HEXA AntibodyHEXA Gene - GeneCards | HEXA Protein | HEXA Antibody
Hexosaminidase Subunit Alpha, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The ... hexosaminidase B) is an homodimer of two beta subunits (two chains A and B); isozyme S (hexosaminidase S) is a homodimer of two ... Reaction=H2O + N-acetyl-beta-D-galactosaminyl-(1-,4)-beta-D-3-sulfogalactosyl-(1-,4)-beta-D-glucosyl-(1,-,1)-ceramide = a beta ... 1-O-(4-O-beta-D-Galactopyranosyl-beta-glucopyranosyl)ceramide. *1-O-(4-O-beta-D-Galactopyranosyl-beta-D-glucopyranosyl)- ...
https://www.genecards.org/cgi-bin/carddisp.pl?gene=HEXA
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] ...
http://proteopedia.org/wiki/index.php/1tjj
HEXA Enzyme Human Recombinant | Hexosaminidase A | ProSpecHEXA Enzyme Human Recombinant | Hexosaminidase A | ProSpec
... non-glycosylated polypeptide chain containing 464 amino acids (89-529 a.a) and having a molecular mass of 52.9 kDa. ... TSD, hexosaminidase A, Beta-hexosaminidase subunit alpha, Beta-N-acetylhexosaminidase subunit alpha, Hexosaminidase subunit A, ... The two subunits composing Beta-hexosaminidase, alpha and beta, belong to the glycosyl hydrolases family and are encoded by ... HEXA is the alpha subunit of the lysosomal enzyme beta-hexosaminidase which, combined with the cofactor GM2 activator protein, ...
https://www.prospecbio.com/hexa_human
D4AUH6 | SWISS-MODEL RepositoryD4AUH6 | SWISS-MODEL Repository
Beta-hexosaminidase ARB_07893. Arthroderma benhamiae (strain ATCC MYA-4681 / CBS 112371) (Trichophytonmentagrophytes) ... Beta-hexosaminidase ARB_07893 UniProtKBInterProSTRINGInteractive Modelling. 605 aa; Sequence (Fasta) ... Beta-hexosaminidase, eukaryotic type, N-terminal. IPR029019PF14845. 214-559. Glycoside hydrolase family 20, catalytic domain. ...
https://swissmodel.expasy.org/repository/uniprot/D4AUH6
Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay...Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay...
The disease results from mutations in the HEXA gene, which codes for the alpha chain of beta-hexosaminidase. The castastrophic ... Tay-Sachs disease is an autosomal recessive lysosomal storage disease caused by beta-hexosaminidase A deficiency and leads to ... This suggests that the presence of beta-hexosaminidase A is not an absolute requirement of ganglioside degradation in mice. ... Hexa-/- mice displayed a total deficiency of beta-hexosaminidase A activity, and membranous cytoplasmic inclusions typical of ...
https://kclpure.kcl.ac.uk/portal/en/publications/disruption-of-murine-hexa-gene-leads-to-enzymatic-deficiency-and-to-neuronal-lysosomal-storage-similar-to-that-observed-in-taysachs-disease
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 ...
https://patient.info/doctor/beta-hex-deficiency
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- ...
http://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) ... In all Gangliosides, the ceramide is linked through its C-1 to a beta-glucosyl residue, which, in turn, is bound to a beta- ... Catalyzes the formation of ganglioside GM3 (alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1, 4-beta-D-glucosylceramide). Gene ...
https://hmdb.ca/metabolites/HMDB0011903
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 ...
http://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.. ...
https://web.expasy.org/variant_pages/VAR_003241.html
The adult polyglucosan body disease mutation GBE1 c.1076A|C occurs at high frequency in persons of Ashkenazi Jewish background ...The adult polyglucosan body disease mutation GBE1 c.1076A|C occurs at high frequency in persons of Ashkenazi Jewish background ...
beta-Hexosaminidase alpha Chain / genetics Actions. * Search in PubMed * Search in MeSH ...
https://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=huge&id=76077
Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population - PubMedTay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population - PubMed
beta-Hexosaminidase alpha Chain / genetics* Actions. * Search in PubMed * Search in MeSH ... Carrier screening for Tay-Sachs disease is performed by sequence analysis of the HEXA gene and/or hexosaminidase A enzymatic ...
https://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=cluster&id=14236
1NOU | Genus1NOU | Genus
beta-hexosaminidase beta chain publication title Crystal structure of Human beta-hexosaminidase B: Understanding the molecular ... Chitobiase/beta-hexosaminidase domain 2-like. 1nouA01. 1M03A 3EDKA 1UH3A 3B9AA 4W86A 1KBKA 5LA2A 4AZ6A 3MUZ1 2DT0A 3MV01 4E2OA ... chains in the Genus database with same CATH superfamily 5LHFA 3W2UA 5F1UA 1AA1B 3OIXA 5LA2A 1OFDA 4AZ6A 2DUAA 2DVTA 1TWSA 1XLBA ... Alpha Beta. Alpha-Beta Barrel. TIM Barrel. Glycosidases. 1nouA02. 3.30.379.10. Alpha Beta. 2-Layer Sandwich. Chitobiase; domain ...
https://genus.fuw.edu.pl/view/1NOU/A/
2GJX | Genus2GJX | Genus
Beta-hexosaminidase alpha chain total genus 154 structure length 480 sequence length 499 ... Chitobiase/beta-hexosaminidase domain 2-like. 2gjxB01. 2GDUA 4AZHA 1OGGA 2OYMA 1E4LA 4YHGA 1JI1A 5I2UA 2X0HA 4S3KA 1CXEA 3CZEA ... chains in the Genus database with same CATH superfamily 4H19A 2GDUA 4AZHA 4JNMA 1Q6OA 1E4LA 1T41A 2PGWA 2OOFA 3GIQA 4KCTA 1QASA ... Alpha Beta. Alpha-Beta Barrel. TIM Barrel. Glycosidases. 2gjxB02. 3.30.379.10. Alpha Beta. 2-Layer Sandwich. Chitobiase; domain ...
https://genus.fuw.edu.pl/view/2GJX/B/
Supplement-Direct DNA Testing for Neurogenetic Diseases | 2000-01-01 | AHC Media: Continuing Medical Education PublishingSupplement-Direct DNA Testing for Neurogenetic Diseases | 2000-01-01 | AHC Media: Continuing Medical Education Publishing
Beta-hexosaminidase beta chain. Autosomal Recessive. Smith-Magenis Syndrome. SMCR. 17p11 Microdeletion. ... Medium Chain Acyl-CoA. ACADM. 1p31. Acyl-CoA Dehydrogenase, Dehydrogenase Deficiency. Medium-Chain Specific. Autosomal ... Long Chain 3-Hydroxyacyl-CoA. HADHA. 2p23. Mitochondrial Trifunctional Dehydrogenase Deficiency. Enzyme Alpha Subunit. ...
https://www.reliasmedia.com/articles/44689-supplement-direct-dna-testing-for-neurogenetic-diseases
DeficiencyHEXAHEXBLysosomalGangliosideGeneSubunits of b-hexosaminidaseMutationsSandhoffEnzymeProteinGangliosidosisPrecursorHumanDefectsAcyl-CoA synthetase long-chain familyAcetylhexosaminidaseMolecularSerumSequenceIsozymesDiseaseResiduesGenesMiceExtended-spectrumInhibitorGalNAcEnzymesGlcNAcGlycosyl hydrolasesSteroidsTerminalAlpha chainsAbnormalGlycan chainLeukocytesActivityGlycosphingolipids
Deficiency13
  • There are numerous mutations that lead to hexosaminidase A deficiency including gene deletions, nonsense mutations, and missense mutations. (wikipedia.org)
  • Hexosaminidase A deficiency results in a group of neurodegenerative disorders caused by intralysosomal storage of the specific glycosphingolipid, GM2 ganglioside. (archive.org)
  • The prototype hexosaminidase A deficiency is Tay-Sachs disease, also known as the acute infantile variant. (archive.org)
  • The diagnosis of hexosaminidase A deficiency relies on the demonstration of absent to near-absent beta-hexosaminidase A (HEX A) enzymatic activity in the serum or white blood cells of a symptomatic individual in the presence of normal or elevated activity of the beta-hexosaminidase B (HEX B) isoenzyme. (archive.org)
  • Tay-Sachs disease is an autosomal recessive lysosomal storage disease caused by beta-hexosaminidase A deficiency and leads to death in early childhood. (kcl.ac.uk)
  • Hexa-/- mice displayed a total deficiency of beta-hexosaminidase A activity, and membranous cytoplasmic inclusions typical of GM2 gangliosidoses were found in the cytoplasm of their neurons. (kcl.ac.uk)
  • Beta hexosaminidase deficiency. (patient.info)
  • This article is about the latter group of patients, where there is a mutation of the HEXB gene leading to a deficiency of the beta subunit of Hex A and the subunits of Hex B leading to a spectrum of disorders including SD. (patient.info)
  • The prognosis for all forms of beta Hex deficiency is poor, with most sufferers dying in childhood. (patient.info)
  • 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)
  • Tay-Sachs disease (also known as GM2 gangliosidoses or hexosaminidase-A deficiency) is an autosomal recessive genetic disorder. (centogene.com)
  • A deficiency of either the alpha- or beta-subunit leads to a severe neurological disease, Tay-Sachs or Sandhoff disease, respectively. (semanticscholar.org)
  • Quantitative proton MRS of cerebral metabolites in laminin alpha2 chain deficiency. (leukonet.de)
HEXA12
  • Hexosaminidase A (alpha polypeptide), also known as HEXA, is an enzyme that in humans is encoded by the HEXA gene, located on the 15th chromosome. (wikipedia.org)
  • The alpha subunit polypeptide is encoded by the HEXA gene while the beta subunit is encoded by the HEXB gene. (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)
  • 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)
  • HEXA Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 464 amino acids (89-529 a.a) and having a molecular mass of 52.9 kDa. (prospecbio.com)
  • The disease results from mutations in the HEXA gene, which codes for the alpha chain of beta-hexosaminidase. (kcl.ac.uk)
  • Carrier screening for Tay-Sachs disease is performed by sequence analysis of the HEXA gene and/or hexosaminidase A enzymatic activity testing. (cdc.gov)
  • Normal breakdown of GM2 gangliosides is performed by the enzyme β-hexosaminidase A. This enzyme consists of 2 subunits (α and β), which are encoded by the HEXA and HEXB genes, respectively. (neurology.org)
  • Purpose: To compare the sensitivity of Hexosaminidase A (HexA) enzyme-based testing to gene sequencing for carrier detection in non-Jewish individuals. (scirp.org)
  • 17 Hexosaminidase A (HEXA) Kits ELISA de 10 fabricants sont disponibles sur www.anticorps-enligne.fr. (anticorps-enligne.fr)
  • There are two forms of HEX: HEXA and B. The A form is a trimer of the subunits alpha, beta A and beta B. The B form is a tetramer of 2 beta A and 2 beta B subunits (O'Dowd et al. (reactome.org)
HEXB1
  • Sandhoff disease involves the CNS accumulation of ganglioside GM2 and asialo-GM2 (GA2) due to inherited defects in the beta-subunit gene of beta-hexosaminidase A and B (Hexb gene). (ox.ac.uk)
Lysosomal3
  • Mutations in the beta-chain lead to Sandhoff disease, a lysosomal storage disorder characterised by accumulation of GM2 ganglioside. (wikipedia.org)
  • The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. (genecards.org)
  • Defects in MANBA, which encodes lysosomal mannosidase, cause beta-mannosidosis. (thefreedictionary.com)
Ganglioside6
  • 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)
  • This suggests that the presence of beta-hexosaminidase A is not an absolute requirement of ganglioside degradation in mice. (kcl.ac.uk)
  • 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)
  • Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. (vwr.com)
  • 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)
Gene4
  • 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)
  • Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and beta-N-acetylhexosaminidase activity . (genecards.org)
  • The disorder is caused by mutations in the GLB1-gene coding for beta-galactosidase. (centogene.com)
  • Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). (vwr.com)
Subunits of b-hexosaminidase2
  • Alpha subunits of b-hexosaminidase A: absence or defects of these results in Tay-Sachs disease (TSD) and its variants. (patient.info)
  • The products of the 3 genes are, respectively, the alpha subunits of b-hexosaminidase A (Hex A). (centogene.com)
Mutations1
  • 11] Grebner, E.E. and Tomczak, J. (1991) Distribution of three a-chain b-hexosaminidase A mutations among TaySachs carriers. (scirp.org)
Sandhoff2
  • 9] Kytzia, H.J. and Sandhoff, K. (1985) Evidence for two different active sites on human beta-hexosaminidase A. Interaction of GM2 activator protein with beta-hexosaminidase A. Journal of Biological Chemistry, 260, 7568-7572. (scirp.org)
  • Reversion of the biochemical defects in murine embryonic Sandhoff neurons using a bicistronic lentiviral vector encoding hexosaminidase alpha and beta. (leukonet.de)
Enzyme3
  • Beta Hex enzyme assay can be undertaken in specialist centres. (patient.info)
  • a bacterial enzyme that catalyzes the hydrolysis of the beta-lactam ring of some penicillins and cephalosporins, producing penicilloic acid and rendering the antibiotic ineffective. (thefreedictionary.com)
  • In the article entitle "Biochemical characterization of the GM2 gangliosidosis B1 variant" the metabolic characteristics of the of the Tay -sachs disease is dictate by action of the different enzyme preferably called "Beta hexosaminidase" or (Hex). (ukessays.com)
Protein7
  • Hexosaminidase A and the cofactor GM2 activator protein catalyze the degradation of the GM2 gangliosides and other molecules containing terminal N-acetyl hexosamines. (wikipedia.org)
  • Hexosaminidase A is a heterodimer composed of an alpha subunit (this protein) and a beta subunit. (wikipedia.org)
  • The loop is absent in the beta subunit, but it serves as an ideal structure for the binding of the GM2 activator protein (GM2AP) in the alpha subunit. (wikipedia.org)
  • Elucidation of the roles of particular transcellular interactions by knockdown, knockout or overexpression studies in cultured beta cells or in vivo necessitates direct perturbation of mRNA and protein expression, potentially affecting beta-cell health and/or function in ways that could confound analyses of the effects of specific interactions. (jove.com)
  • We developed a system where beta cells are cultured on a layer of HEK293 cells expressing a protein of interest. (jove.com)
  • In this model, the beta-cell cytoplasm is untouched while extracellular protein-protein interactions are manipulated. (jove.com)
  • The essential protein for bacterial flagella formation FlgJ functions as a beta-N-acetylglucosaminidase. (embl-heidelberg.de)
Gangliosidosis1
  • Subsequent hexosaminidase enzymatic testing revealed reduced total hexosaminidase activity in leukocytes (14% that of normal controls), consistent with a GM2 gangliosidosis. (neurology.org)
Precursor1
  • The two beta chains are derived from the cleavage of a precursor. (wikipedia.org)
Human10
  • Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. (wikipedia.org)
  • 1tjj is a 3 chain structure with sequence from Human . (proteopedia.org)
  • SAP3_HUMAN ] The large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also exhibits some calcium-independent phospholipase activity (By similarity). (proteopedia.org)
  • N-acetyl-beta, D-glucosaminidases(NAGs) from human seminal plasma, testes and renal tissues were purified and those of enzymatic properties, such as molecular weight (MW), kinetic studies and sugar-chain structures were studied. (nii.ac.jp)
  • The NAG A purified from human testes and renal tissues, was studies on the enzymatic properties and the sugar-chain structures. (nii.ac.jp)
  • Hexosaminidase C from human renal tissues was demonstrated and its enzymatic properties were studied. (nii.ac.jp)
  • Publications] Ken-ichiro Yoshida: 'Demonstration and some properties of N-acetyl-β,D-hexosaminidase(HEX)C in human renal tissues. (nii.ac.jp)
  • National Institutes of Health, Bethesda, Maryland U.S.A. Cloning and characterization of genes encoding for a and b chains of human b-Hexosaminidase. (freelancer.com)
  • Investigation of beta-oxidation intermediates in normal and MCAD-deficient human fibroblasts using tandem mass spectrometry. (thefreedictionary.com)
  • Identification of the 6-sulfate binding site unique to alpha-subunit-containing isozymes of human beta-hexosaminidase. (semanticscholar.org)
Defects2
  • Beta subunits of Hex A: absence or defects of these results in Sandhoff's disease (SD) and its variants. (patient.info)
  • Analysis of organic acids after incubation with (16-2H3)palmitic acid in fibroblasts from patients with mitochondrial beta-oxidation defects. (thefreedictionary.com)
Acyl-CoA synthetase long-chain family1
Acetylhexosaminidase2
  • So under normal animals' body physiological, homeostasis internal check points and catalytic enzymatics reactions, the Isoenzymes beta N acetylhexosaminidase will break down or hydrolyzed the reaction of the gaglioside activities. (ukessays.com)
  • Because isoenzymes beta N acetylhexosaminidase is divided into two subunits of enzymes mention early as beta, alpha and beta, beta subunits, each member of the enzymes is deploys to perform it respective function, given that system is operating under normal circumstances. (ukessays.com)
Molecular1
  • Molecular characterization of extended-spectrum beta-lactamase producing Enterobacteriaceae in a Saudi Arabian tertiary hospital. (thefreedictionary.com)
Serum3
  • Hexosaminidase activity can be measured in serum, leukocytes, tears and cultivated fibroblasts. (patient.info)
  • Detection of heterozygotes and homozygotes by serum hexosaminidase assay. (scirp.org)
  • Effects of oral contraceptive steroids on serum hexosaminidase activity. (scirp.org)
Sequence1
  • 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)
Isozymes1
  • In mammals beta-hexosaminidase B (betabeta) and S (alphaalpha) are other major and minor isozymes. (semanticscholar.org)
Disease3
  • Tay-Sachs disease occurs when hexosaminidase A loses its ability to function. (wikipedia.org)
  • These mice should help us to understand several aspects of the disease as well as the physiological functions of hexosaminidase in mice. (kcl.ac.uk)
  • With lack of beta-subunits the increased polymerization of alpha subunits leads to the increased formation of Hex S in Tay-Sachs disease. (centogene.com)
Residues5
  • Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. (uniprot.org)
  • Even though the alpha and beta subunits of hexosaminidase A can both cleave GalNAc residues, only the alpha subunit is able to hydrolyze GM2 gangliosides. (wikipedia.org)
  • Chitin ((1,4)-2-acetamide-2-deoxy-beta-D-glucan) is a polysaccharide created by beta,1-4 bonding of N-acetyl glucosamine residues. (biomedcentral.com)
  • Structural insights into cellulolytic and chitinolytic enzymes revealing crucial residues of insect beta-N-acetyl-D-hexosaminidase. (embl-heidelberg.de)
  • The chemical similarity of cellulose and chitin supports the idea that their corresponding hydrolytic enzymes would bind beta-1,4-linked glucose residues in a similar manner. (embl-heidelberg.de)
Genes2
  • The two subunits composing Beta-hexosaminidase, alpha and beta, belong to the glycosyl hydrolases family and are encoded by distinct genes. (prospecbio.com)
  • Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. (vwr.com)
Mice1
  • 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)
Extended-spectrum2
  • Antibiotic resistance rates of extended spectrum beta-lactamase producing Escherichia coli and Klebsiella spp. (thefreedictionary.com)
  • Transcontinental importation into the UK of Escherichia coli expressing a plasmid-mediated AmpC-type betalactamase exposed during an outbreak of SHV-5 extended-spectrum beta-lactamase in a Leeds hospital. (thefreedictionary.com)
Inhibitor1
  • The isolates resistant to ceftazidime, cefotaxime and cefoxitin were screened positive for AmpC beta-lactamases and further confirmed by inhibitor based method using boronic acid disc. (thefreedictionary.com)
GalNAc1
  • Beta-hexosaminidase (HEX) cleaves the terminal N-acetyl galactosamine (GalNAc) from glucosaminoglycans (GAGs) and any other molecules containing a terminal GalNAc. (reactome.org)
Enzymes3
  • In mammals, the internalization of microorganisms at sites of infection by macrophages proceeds via a sequential chain of events that leads to the sequestration of pathogens in phagosomes, where they are killed and degraded by hydrolytic enzymes. (mcponline.org)
  • Any of various enzymes that hydrolyze and inactivate beta-lactam antibiotics such as penicillin, found in many antibiotic-resistant bacteria. (thefreedictionary.com)
  • Measuring the population of enzymes whose active site was occupied by a polymer chain revealed that Cel7A was bound predominantly via its active site. (embl-heidelberg.de)
GlcNAc1
  • 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)
Glycosyl hydrolases1
  • Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. (vwr.com)
Steroids1
  • Steroids differ from one another in the structure of various side chains and additional rings. (thefreedictionary.com)
Terminal1
  • Synthetic peptides from the variable region of the 4-kDa C-terminal moiety of tubulin subunits, alpha-(430-441) and beta-(422-434), bind to MAP-2 and to the MAP tau, and a preferential interaction of the beta peptide is observed. (termsreign.tk)
Alpha chains1
  • and hexosaminidase S is a homodimer of alpha chains. (wikipedia.org)
Abnormal1
  • Where there are abnormal beta chains both hexosaminidase A and B will be affected. (patient.info)
Glycan chain1
  • Glycolipids are complex molecules consisting of a ceramide lipid moiety linked to a glycan chain of variable length and structure. (frontiersin.org)
Leukocytes1
Activity1
  • 9 MBLs have not only become a source of increased morbidity and mortality but also represent a clinical threat due to their unrivalled spectrum of activity and their resistance to therapeutic serine beta-lactamase inhibitors. (thefreedictionary.com)
Glycosphingolipids1
  • Gangliosides are more complex glycosphingolipids in which oligosaccharide chains containing N-acetylneuraminic acid (NeuNAc) are attached to a ceramide. (hmdb.ca)
RCSB PDB - 5UTR: Crystal structure of Burkholderia cenocepacia family 3 glycoside hydrolase (NagZ) bound to (3S,4R,5R,6S)-3...
RCSB PDB - 5UTR: Crystal structure of Burkholderia cenocepacia family 3 glycoside hydrolase (NagZ) bound to (3S,4R,5R,6S)-3... (rcsb.org)
Differential analysis of mutations in the Jewish population and their implications for diseases | Genetics Research | Cambridge...
Differential analysis of mutations in the Jewish population and their implications for diseases | Genetics Research | Cambridge... (cambridge.org)
Plus it
Plus it (mcponline.org)
HEXA Gene - GeneCards | HEXA Protein | HEXA Antibody
HEXA Gene - GeneCards | HEXA Protein | HEXA Antibody (genecards.org)
1tjj - Proteopedia, life in 3D
1tjj - Proteopedia, life in 3D (proteopedia.org)
HEXA Enzyme Human Recombinant | Hexosaminidase A | ProSpec
HEXA Enzyme Human Recombinant | Hexosaminidase A | ProSpec (prospecbio.com)
Human Metabolome Database: Showing metabocard for Ganglioside GM2 (d18:0/25:0) (HMDB0011906)
Human Metabolome Database: Showing metabocard for Ganglioside GM2 (d18:0/25:0) (HMDB0011906) (hmdb.ca)
1NOU | Genus
1NOU | Genus (genus.fuw.edu.pl)
Supplement-Direct DNA Testing for Neurogenetic Diseases | 2000-01-01 | AHC Media: Continuing Medical Education Publishing
Supplement-Direct DNA Testing for Neurogenetic Diseases | 2000-01-01 | AHC Media: Continuing Medical Education Publishing (reliasmedia.com)
Beta Hex Deficiency; Beta hexosaminidase deficiency. Patient | Patient
Beta Hex Deficiency; Beta hexosaminidase deficiency. Patient | Patient (patient.info)
Ben tumor of salivary gland 2005:2010[pubdate] *count=100 - BioMedLib™ search engine
Ben tumor of salivary gland 2005:2010[pubdate] *count=100 - BioMedLib™ search engine (bmlsearch.com)
Glycogen Exocytosis from Cultured Pompe Skin Fibroblasts | Insight Medical Publishing
Glycogen Exocytosis from Cultured Pompe Skin Fibroblasts | Insight Medical Publishing (transbiomedicine.com)
Esoravia - Translator - Italy | Freelancer
Esoravia - Translator - Italy | Freelancer (fi.freelancer.com)
Research Project | Centogene
Research Project | Centogene (centogene.com)
Pathogenic Bacterial Sensors Based on Carbohydrates as Sensing Elements | Springer for Research & Development
Pathogenic Bacterial Sensors Based on Carbohydrates as Sensing Elements | Springer for Research & Development (rd.springer.com)
Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene | Neurology Genetics
Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene | Neurology Genetics (ng.neurology.org)
JNHE01000016_gene4540 protein (Pseudomonas oleovorans) - STRING interaction network
JNHE01000016_gene4540 protein (Pseudomonas oleovorans) - STRING interaction network (string-db.org)
Purification of Chitinase enzymes from Bacillus subtilis bacteria TV-125, investigation of kinetic properties and antifungal...
Purification of Chitinase enzymes from Bacillus subtilis bacteria TV-125, investigation of kinetic properties and antifungal... (ann-clinmicrob.biomedcentral.com)
Lipidomics in diagnosis of lipidoses | Springer for Research & Development
Lipidomics in diagnosis of lipidoses | Springer for Research & Development (rd.springer.com)
AcpS protein (Burkholderia cepacia) - STRING interaction network
AcpS protein (Burkholderia cepacia) - STRING interaction network (string-db.org)
Aperçu des produits pour Hexosaminidase A kit ELISA
Aperçu des produits pour Hexosaminidase A kit ELISA (anticorps-enligne.fr)
2 Lipids Flashcards by Meaghan Pugh | Brainscape
2 Lipids Flashcards by Meaghan Pugh | Brainscape (brainscape.com)
Metabolism of Tay Sachs Disease
Metabolism of Tay Sachs Disease (ukessays.com)
Molecules and Cells
Molecules and Cells (molcells.org)
US Patent # 8,034,769. Oxidized proteins and oxidized protein inhibitor compositions and methods of use thereof - Patents...
US Patent # 8,034,769. Oxidized proteins and oxidized protein inhibitor compositions and methods of use thereof - Patents... (patents.com)