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.
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.
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.
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.
Enzymes that catalyze the hydrolysis of N-acylhexosamine residues in N-acylhexosamides. Hexosaminidases also act on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES.
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.
An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.
A 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.
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.
An essential cofactor for the degradation of G(M2)GANGLIOSIDE by lysosomal BETA-N-ACETYLHEXOSAMINIDASES. Genetic mutations resulting in loss of G(M2) activator protein are one of the causes of TAY-SACHS DISEASE, AB VARIANT.
A 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.
The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.
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.
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.
Structurally related forms of an enzyme. Each isoenzyme has the same mechanism and classification, but differs in its chemical, physical, or immunological characteristics.
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.
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.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
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.
A group of four homologous sphingolipid activator proteins that are formed from proteolytic cleavage of a common protein precursor molecule referred to as prosaposin.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
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.
The rate dynamics in chemical or physical systems.
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.
Electrophoresis in which a starch gel (a mixture of amylose and amylopectin) is used as the diffusion medium.
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.
The N-acetyl derivative of glucosamine.
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)
Identification of genetic carriers for a given trait.
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.
Plasma glycoprotein member of the serpin superfamily which inhibits TRYPSIN; NEUTROPHIL ELASTASE; and other PROTEOLYTIC ENZYMES.
The sum of the weight of all the atoms in a molecule.
The class of heavy chains found in IMMUNOGLOBULIN A. They have a molecular weight of approximately 58 kDa and contain about 470 amino acid residues arranged in four domains and an oligosaccharide component bound covalently to their Fc fragment constant region.
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.
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).
Electrophoresis in which a polyacrylamide gel is used as the diffusion medium.
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.
Established cell cultures that have the potential to propagate indefinitely.
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.
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.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
A family of transmembrane glycoproteins (MEMBRANE GLYCOPROTEINS) consisting of noncovalent heterodimers. They interact with a wide variety of ligands including EXTRACELLULAR MATRIX PROTEINS; COMPLEMENT, and other cells, while their intracellular domains interact with the CYTOSKELETON. The integrins consist of at least three identified families: the cytoadhesin receptors(RECEPTORS, CYTOADHESIN), the leukocyte adhesion receptors (RECEPTORS, LEUKOCYTE ADHESION), and the VERY LATE ANTIGEN RECEPTORS. Each family contains a common beta-subunit (INTEGRIN BETA CHAINS) combined with one or more distinct alpha-subunits (INTEGRIN ALPHA CHAINS). These receptors participate in cell-matrix and cell-cell adhesion in many physiologically important processes, including embryological development; HEMOSTASIS; THROMBOSIS; WOUND HEALING; immune and nonimmune defense mechanisms; and oncogenic transformation.
A subclass of ACIDIC GLYCOSPHINGOLIPIDS. They contain one or more sialic acid (N-ACETYLNEURAMINIC ACID) residues. Using the Svennerholm system of abbrevations, gangliosides are designated G for ganglioside, plus subscript M, D, or T for mono-, di-, or trisialo, respectively, the subscript letter being followed by a subscript arabic numeral to indicated sequence of migration in thin-layer chromatograms. (From Oxford Dictionary of Biochemistry and Molecular Biology, 1997)
Proteins prepared by recombinant DNA technology.
Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.
Presence of warmth or heat or a temperature notably higher than an accustomed norm.
The parts of a macromolecule that directly participate in its specific combination with another molecule.
A characteristic feature of enzyme activity in relation to the kind of substrate on which the enzyme or catalytic molecule reacts.
A genus of fleas in the family Pulicidae which includes the species that serves as the primary vector of BUBONIC PLAGUE, Xenopsylla cheopis.
The beta subunit of hexosaminidase A and hexosamininidase B. Mutations in the gene that encodes this protein are linked to SANDHOFF DISEASE and can result in loss of both hexosaminidase A activity and hexosaminidase B activity.
A tough transparent membrane surrounding the OVUM. It is penetrated by the sperm during FERTILIZATION.

Nonsense-mediated decay of human HEXA mRNA. (1/5)

Nonsense-mediated mRNA decay (NMD), the loss of mRNAs carrying premature stop codons, is a process by which cells recognize and degrade nonsense mRNAs to prevent possibly toxic effects of truncated peptides. Most mammalian nonsense mRNAs are degraded while associated with the nucleus, but a few are degraded in the cytoplasm; at either site, there is a requirement for translation and for an intron downstream of the early stop codon. We have examined the NMD of a mutant HEXA message in lymphoblasts derived from a Tay-Sachs disease patient homozygous for the common frameshift mutation 1278ins4. The mutant mRNA was nearly undetectable in these cells and increased to approximately 40% of normal in the presence of the translation inhibitor cycloheximide. The stabilized transcript was found in the cytoplasm in association with polysomes. Within 5 h of cycloheximide removal, the polysome-associated nonsense message was completely degraded, while the normal message was stable. The increased lability of the polysome-associated mutant HEXA mRNA shows that NMD of this endogenous mRNA occurred in the cytoplasm. Transfection of Chinese hamster ovary cells showed that expression of an intronless HEXA minigene harboring the frameshift mutation or a closely located nonsense codon resulted in half the normal mRNA level. Inclusion of multiple downstream introns decreased the abundance further, to about 20% of normal. Thus, in contrast to other systems, introns are not absolutely required for NMD of HEXA mRNA, although they enhance the low-HEXA-mRNA phenotype.  (+info)

Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England. (2/5)

BACKGROUND: The assessment of risk for Tay-Sachs disease (TSD) in individuals of French Canadian background living in New England is an important health issue. In preliminary studies of the enzyme-defined carrier frequency for TSD among Franco-Americans in New England, we found frequencies (1:53) higher than predicted from the incidence of infantile TSD in this region. We have now further evaluated the risk for TSD in the Franco-American population of New England. METHODS: Using a fluorescence-based assay for beta-hexosaminidase activity, we determined the carrier frequencies for TSD in 2783 Franco-Americans. DNA analysis was used to identify mutations causing enzyme deficiency in TSD carriers. RESULTS: We determined the enzyme-defined carrier frequency for TSD as 1:65 (95% confidence interval 1:49 to 1:90). DNA-based analysis of 24 of the enzyme-defined carriers revealed 21 with sequence changes: 9 disease-causing, 4 benign, and 8 of unknown significance. Six of the unknowns were identified as c.748G>A p.G250S, a mutation we show by expression analysis to behave similarly to the previously described c.805G>A p.G269S adult-onset TSD mutation. This putative adult-onset TSD c.748G>A p.G250S mutation has a population frequency similar to the common 7.6 kb deletion mutation that occurs in persons of French Canadian ancestry. CONCLUSIONS: We estimate the frequency of deleterious TSD alleles in Franco-Americans to be 1:73 (95% confidence interval 1:55 to 1:107). These data provide a more complete data base from which to formulate policy recommendations regarding TSD heterozygosity screening in individuals of French Canadian background.  (+info)

Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease. (3/5)

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Introduction of an N-glycan sequon into HEXA enhances human beta-hexosaminidase cellular uptake in a model of Sandhoff disease. (4/5)

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Mice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal loss. (5/5)

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Our study demonstrates that the Neu4 block exacerbates the neurological phenotype the Hexa−/− mouse, supporting the view that Neu4 is a one of the modifier genes in the mouse model of Tay-Sachs disease. Neu4/Hexa double homozygotes showed a more severe disease than mice with either homozygous mutation alone. Double mutant mice were healthy at birth but developed seizures starting about 3 months of age, with EEG recordings showing typical epileptic events consisting of myoclonic jerks associated with spike wave discharges originating from the cortex and diffusing to the hippocampus, while in Neu4−/− and Hexa−/− mice seizures were not observed until at least one year of age. Seizures were observed in ∼40% of double-knockout mice which is consistent with a penetrence rate observed for seizures in several mouse models of Mendelian diseases [18], [19]. Interestingly, the seizures observed in double mutants were inducible by external stimuli such as handling and noise, which is ...
The role of Neurochondrin (NCDN) in humans is not well understood. Mice with a conditional Ncdn knock-out show epileptic seizures, depressive-like behaviours an...
Canavan disease was first described in 1931 by Myrtelle Canavan.[3]. The discovery of the gene for Canavan disease, and subsequent events, generated considerable controversy. In 1987 the Greenbergs, a family with two children affected by Canavan disease, donated tissue samples to Dr Reuben Matalon, a researcher looking for the Canavan gene. He successfully identified the gene in 1993, and developed a test for it that would enable antenatal counselling of couples at risk of having a child with Canavan disease.[4] For a while the Canavan Foundation offered free genetic testing with the test. However, in 1997, Dr Matalons employer, the Miami Childrens Hospital, patented the gene and started claiming royalties on the genetic test, forcing the Canavan Foundation to withdraw their testing. A subsequent lawsuit brought by the Canavan Foundation against the Miami Childrens Hospital was resolved with a sealed out-of-court settlement. [5] The case is sometimes cited in arguments about the ...
Canavan disease (OMIM 271900) is an autosomal recessive progressive leukodystrophy that often leads to death in the first decade of life. It is caused by a deficiency of the enzyme, aspartoacylase (ASPA). Canavan disease is more common in the Ashkenazi Jewish population where about 1 in 40 persons is estimated to be a carrier. Couples who are both carriers have a one in four risk of having a child with Canavan disease. A305E is the Canavan mutation found among individuals of non-Ashkenazi Jewish ancestry. DNA test results must be combined with clinical information for the most accurate interpretation. ...
Canavan Disease is an autosomal recessive devastating demyelinating disease caused by a deficiency in Aspartoacylase (ASPA) enzyme. There is no available treatment. ASPA deficiency leads to:- the accumulation of high levels of N-acetylaspartate (NAA), involved in myelin degeneration and epilepsy;- the deficient synthesis of acetate in oligodendrocytes, that could impair CNS myelination.Lithium administration induces a decrease in NAA in the brain of the tremor rats (animal model for CD) and in one patient (JANSON, 2005). On the other hand, administration of acetate could improve myelination in Canavan patients.For this reason, we propose to combine both treatments: Lithium Gluconate and Glyceryl Triacetate (GTA). Eighteen patients, aged 1 to 15 years, will receive oral GTA or Lithium during 4 months, then both treatment in association during 6 months. Patients will be sequentially evaluated up to the end of the treatment and 2 months thereafter for:-tolerance of the therapy (careful monitoring ...
Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic deficiency of the ASPA enzyme, which catalyzes the hydrolysis of N-acetyl-L-aspartate (NAA) into aspartate and acetate. CD occurs frequently among Ashkenazi Jewish population, however it has been reported in many other ethnic groups with significantly lower frequency. Here, we report on two Egyptian patients diagnosed with CD, the first patient harbors five missense mutations (c.427 A , G; p. I143V, c.502C , T; p. R168C, c.530 T , C; p. I177T, c.557 T , C; p. V186D c.548C , T; p. P183L) and a silent mutation (c.693 C , T; p. Y231Y). The second patient was found to be homozygous for two missense mutations (c.427 A , G; p. I143V and c.557 T , A; p. V186D). Furthermore, molecular modeling of the novel mutation p. P183L provides an instructive explanation of the mutational impact on the protein structure that can affect the function of the ...
Canavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages.
Canavan disease is a rare leukodystrophy, in which the child has severe mental retardation and blindness, in which death during early childhood is characterstic.
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed ...
Complete result as shown by SNAP. SNAP was also one of the most promising tools for a sequence based mutation analysis. ,figtable id=snap, ...
Cancer Therapy Advisor provides laboratory medicine specialists with the latest information to correctly diagnose laboratory medicine based upon conditions, procedures and guides. Visit often for updates and new information.
Canavan disease is caused by Aspartoacylase deficiency. There is no treatment for the disease, but there is a food additive that includes acetate . We suggest an early treatment with acetate and a neurologic evaluation, including MRI, after 4 months of treatment. In any case the treatment will be stopped at the age of 22 months, when myelinization is ended ...
Canavan Research Illinois (CRI) is a nonprofit corporation and 501(c)(3) public charity based in Illinois. We were established in April 2000 to meet a critical need to support medical research to treat, cure, and improve the quality of lives of all children battling Canavan disease, a rare fatal genetic neurological disorder. Canvavan Research Illinois is also known as Canavan Disease Research. Canavan Disease Research is the international division of Canavan Research Illinois. CRI is leading the fight to cure Canavan disease through private fundraising efforts, networking affected families and launching the first international patient registry.. Canavan disease is a rare inherited genetic disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the covering that protects nerves and promotes the ...
The month of May is designated as Tay-Sachs and Canavan Diseases Awareness Month. Newborns with Tay-Sachs disease appear healthy at birth, but then symptoms start to occur at 6 months. The infant will start to lose motor skills and mental functions. Soon after, they become blind, deaf, mentally retarded, paralyzed, non-responsive to their environment and will eventually die by the age of 5. Tay-Sachs disease is caused by a lack of an enzyme called Hexosaminidase A (Hex A), which is needed for the body to break down the fatty waste substances that are found in the brain cells. Without Hex A, this substance accumulates abnormally and causes gradual damage until the nervous system shuts down completely and can no longer sustain life.. Newborns with Canavan disease also appear healthy at birth. However, at the ages of 3 and 9 months, subtle changes will start to occur. These changes include visual inattentiveness, inability to grasp objects, roll over, or like Tay-Sachs disease, perform motor tasks. ...
Radachowsky said.Lindsay, whos been in the program since its inception in 1998, is the only student now being taught to use the communications device, which hooks onto a wheelchair.|br/||br/|Because of her poor head control and poor visual tracking, I was pretty certain by the time Lindsay was 8 weeks old.|br/||br/|Canavan disease is a rare genetic disease that occurs most often when both parents are Ashkenazi Jews from eastern Poland, Lithuania or western Russia, or Saudi Arabia.Because of the mutation of a single gene, Canavan sufferers have a buildup of N-acetylaspartate acid, or NAA, in the brain.|br/||br/|[...] the therapy seems to have been the key to her shaping her lips as if to say a word, unclenching her hands and spontaneously making cooing sounds.Now the Karlins are hoping that stem cell therapy, which has the potential to repair damage caused by many diseases and traumas, will be available for Lindsay.Meanwhile, Lindsays parents feel fortunate they can keep her home and afford the
Abstract The disorder now identified as aspartoacylase deficiency is equivalent to the condition variously called spongy degeneration of the brain, spongy degeneration of the central nervous system in infancy, or spongy degeneration of infancy, and many publications have used the eponymic designation, Canavan disease. The first definition of this condition as a distinct clinical entity is properly credited to van Bogaert and Bertrand in 1949.1, 2 In retrospect, the first clinical description is attributed to Globus and Strauss in 1928.3 In 1931, Canavan described an infant with prominent enlargement of the head and cerebral and cerebellar spongy degeneration under the designation Schilders encephalitis periaxialis diffusa.4 Eiselsberg is credited with the recognition of the familial nature of the disorder in 1937,5 but, like Jervis,6, 7 she described the condition as Krabbe disease. The reports of von Bogaert and Bertrand 1, 2 were comprehensive and described the essential pathologic and ...
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Canavan disease
Acetate is a molecule needed for myelin formation in the glial cells. Therefore, loss-of-function-mutations in the enzyme Aspartoacylse, will result in a deficient myelin production ,ref name=myelin_deficiency, Aryan M.A. Namboodiri, Arun Peethambaran, Raji Mathew, Prasanth A. Sambhu, Jeremy Hershfield, John R. Moffett, Chikkathur N. Madhavarao, Canavan disease and the role of N-acetylaspartate in myelin synthesis, Molecular and Cellular Endocrinology, Volume 252, Issues 1-2, 27 June 2006, Pages 216-223 ,/ref,. NAA is one of most abundant amino acid derivatives in the human brain, next to glutamate. It is known, that NAA is necessary for correct development and maintenance of white matter. Despite the function of NAA as an important distributor of acetate molecules for myelin production, its exact role in the brain remains unclear ,ref name=pdb_structure /, ,ref name=NAA, Ronald E. Viola, The impact of structural biology on neurobiology, PNAS 2007 104: 399-400 ,/ref,. Furthermore, the ASPA ...
Visit Colleen Canavans CaringBridge website where youll find the latest updates and a place to share messages of love, hope & compassion.
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I wanted to understand what happens in a young body to cause these profound symptoms. I watched videos, read memoirs, devoured medical journal websites. Heres what I learned: a gene mutation prevents the production of a critical enzyme in the brain called apartoacyclase. Without this enzyme, an acid called NAA or N-acetylaspartate, is not broken down, thereby it accumulates to dangerous levels in the brain. This causes cells responsible for making myelin sheaths, known as oligodendrocytes, to fail at this critical developmental task. Myelin sheaths are the fatty covering, or the insulation, around nerve fibers in the brain. Without functioning myelin sheaths, communication between the nerve impulses and the body are misdirected, slowed down, or incomplete, and the brain deteriorates ...
UC Davis investigators have settled a long-standing controversy surrounding the molecular basis of an inherited disorder that historically affected Ashkenazi Jews from Eastern Europe but now also arises in other populations of Semitic descent, particularly families from Saudi Arabia.
* Nice treat: my LARoB piece got namechecked in an Unexpected Stories review at NPR. * If you want a vision of the future, imagine the polar vortex making it unseasonably cold, forever. * New Data Says Huge West Virginia Chemical Spill May Have Been More Toxic Than Reported. But dont worry: Freedom Industries has been fined…
Aerts J.M.F.G., Ferraz M.J., Boot R.G., van Breemen M.J., Dekker N., Kramer G., Hollak C.E.M., Maas M., Linthorst G.E., Smid B., Rombach S.M., van Dussen L., Poorthuis B. & Groener J.E.M. (2013), Biomarkers for lysosomal storage disorders. In: Surendran S. (red.) Neurochemistry of metabolic diseases: lysosomal storage diseases, phenylketonuria, and Canavan disease.. Hauppage, NY: Nova Science Publishers. 169-203 ...
La maladie de Canavan est une maladie autosomique récessive dégénérative qui provoque des dommages progressifs aux cellules nerveuses dans le cerveau. Maladie de Canavan est lune des maladies cérébrales dégénératives plus courantes de lenfance. Cette maladie est partie dun groupe de maladies génétiques appelé leucodystrophies. Leucodystrophies sont caractérisées par la dégénérescence de la myéline dans la couche de phospholipides, isolant laxone dun neurone. Le gène associé à la maladie est situé sur le chromosome humain 17.. ...
Advances in technology are making genetic testing more readily available to the public-and some tests can even be done in the privacy of home.. People of Jewish lineage are at increased risk for passing on certain genetic diseases to their children, but a new public health initiative can help them understand their odds. The nonprofit JScreen program, managed by the Emory School of Medicines Department of Human Genetics, provides at-home genetic screening and private counseling for Jewish people to determine their risk.. Geneticists have identified markers for nineteen genetic diseases that are more common in the Jewish-Ashkenazi community, including Tay-Sachs and Canavan disease. The carriers are healthy, but they can pass the diseases along to their children. JScreen also offers an expanded panel, useful for couples of mixed descent and interfaith couples, which screens for a total of eighty diseases.. By leveraging advances in genetic testing and online education that allow people to be ...
Jul 03, · Q&A Commercial Law (Questions and Answers) [Jo Reddy, Rick Canavan] on freelancerscomic.com *FREE* shipping on qualifying offers. Routledge Q&As give you the tools to practice and refine your exam technique, showing you how to apply your knowledge to maximum effect in assessment. Each book contains essay and problem-based questions on the most commonly examined topics5/5(2).
STOURBRIDGE expect an extra 72 hours recovery period will allow Sam Rock and Drew Canavan to play their part in chasing a second FA Trophy giant-killing tonight.
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Canavan disease (CD) is a rare leukodystrophy caused by mutations in the ASPA gene, leading to severe neurodegeneration and short life expectancy. To date, the exact disease mechanism is poorly understood and therapeutic options are scarce. The ASPA gene encodes aspartoacylase, an enzyme catalyzing the degradation of N-acetylaspartate (NAA). Despite NAA being the second-most abundant metabolite in the mammalian brain, its functional role is poorly understood. Recently, several independent groups found NAA metabolism to also play important roles in non-nervous tissues, e.g. in adipocytes, immune cells, lung and prostate cancer cells, pointing towards a previously overlooked wide relevance of peripheral NAA metabolism.. In the PeriNAA junior research alliance, clinical, experimental and computational groups are collaborating to generate a computational model around NAA metabolism and inferring model parameters from stable isotope-assisted metabolomics data, RNA-seq data, and other experimental ...
Respite care enables the caregivers to maintain the ability to continue care giving. The benefits to carers described in the literature also fall into these two broad categories: stress reduction and self-esteem increase; and improved family functioning (Merriman and Canavan, 2007).. A second purpose of respite is to make it possible for people affected by a with rare condition to live according to their usual daily routine and to provide a place to experience and perform recreational and meaningful activities away from their parents/other caregivers. Benefits to service users mentioned in the literature are socialisation, and enjoyment of experiences outside the home (Merriman and Canavan, 2007).. Without respite, not only can families suffer economically and emotionally, caregivers themselves may face serious health and social risks as a result of stress and exhaustion associated with continuous care giving. Three fifths of family caregivers aged 19-64 surveyed recently by the Commonwealth ...
Respite care enables the caregivers to maintain the ability to continue care giving. The benefits to carers described in the literature also fall into these two broad categories: stress reduction and self-esteem increase; and improved family functioning (Merriman and Canavan, 2007).. A second purpose of respite is to make it possible for people affected by a with rare condition to live according to their usual daily routine and to provide a place to experience and perform recreational and meaningful activities away from their parents/other caregivers. Benefits to service users mentioned in the literature are socialisation, and enjoyment of experiences outside the home (Merriman and Canavan, 2007).. Without respite, not only can families suffer economically and emotionally, caregivers themselves may face serious health and social risks as a result of stress and exhaustion associated with continuous care giving. Three fifths of family caregivers aged 19-64 surveyed recently by the Commonwealth ...
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The New England Patriots have not won a Super Bowl since 2004. The organization is in complete disarray, and now, finally, Pats fans can admit the problem:…
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Looking for Tay-Sachs disease? Find out information about Tay-Sachs disease. rare hereditary disease caused by a genetic mutation that leaves the body unable to produce an enzyme enzyme, biological catalyst. The term enzyme comes... Explanation of Tay-Sachs disease
Source. 1. How common is Tay-Sachs disease? As already mentioned, this is a rare inherited disorder which progresses to destroy nerve cells. There are various forms of Tay-Sachs disease. The most common one occurs in infancy, at 3 to 6 months. Until that moment, the child seems to be perfectly healthy. The other forms of the condition are even more rarely developed. In such cases, signs and symptoms of the disease appear in childhood or adulthood. They are milder and can vary a lot from one patient to another. Specialists claim that Tay-Sachs disease is most common among eastern and central Europeans. 2. Why is the disease developed?. Specialists claim that Tay-Sachs disease is developed by children who lack a protein that is necessary to dissolve a fatty deposit formed in healthy neurons. The baby, inherits two copies of genes, one from each parent. When both of these are defective genes, they lead to the mutation which causes Tay-Sachs disease. So, mutations in the HEXA gene cause Tay-Sachs ...
Weak muscles and stalled development can be early signs of Tay-Sachs disease. Learn what to do if you suspect your baby has Tay-Sachs and find out how your doctor diagnoses this condition.
May 12, · Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.. The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Jan 22, · Tay-Sachs disease is inherited in an autosomal recessive manner. This means that to have the disease, a person must have a mutation in both copies of the responsible gene in each cell. There is nothing either parent can do, before or during a pregnancy, to cause a child to have Tay-Sachs disease.. Tay sachs disease sex linked or autosomal in Chesterfield
E75.02 is a billable diagnosis code used to specify a medical diagnosis of tay-sachs disease. Code valid for the fiscal year 2021
As there is currently no successful treatment for individuals with Tay-Sachs disease, there is a need for significant research into therapy techniques that could be useful in the treatment for the disease.
The dipeptide NAAG synthetase activity has not been described and the enzyme has not been purified. the highest concentrations are found in the spinal cord and stem mind (6). Despite its large quantity throughout the mammalian nervous system its physiological part is not fully recognized. Because NAAG synthesis in sensory ganglia was not clogged by translation inhibitors it was assumed that NAAG is not derived from a post-translational process but is definitely synthesized by a neuron specific NAAG synthetase catalyzing Mouse Monoclonal to Goat IgG. the condensation of and its metabolic fate in these cells is not clear. Deficiency in aspartoacylase II prospects to build up of NAA but also NAAG (11) and causes a rare leukodystrophy Canavan disease (12 13 Number 1. Schematic demonstration of NAAG rate of metabolism. The aspartate and model systems (observe Ref. 16 for review). The effects of NAAG look like mediated by its agonistic binding to type 3 Roflumilast metabotropic glutamate receptor ...
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Harvesting lab-raised zebrafish based on their size led to differences in the activity of more than 4,000 genes, as well as changes in allele frequencies of those genes, in the fish that remained.. 0 Comments. ...
Daily News How Gaining and Losing Weight Affects the Body Millions of measurements from 23 people who consumed extra calories every day for a month reveal changes in proteins, metabolites, and gut microbiota that accompany shifts in body mass.. ...
Project Shui is a Bar Mitzvah project, a boys race to find a cure for his sister with Tay-Sachs disease, and an internet marketing endeavor. All money raised by the website will go to the Cure Tay-Sachs Foundation to help accelerate a gene therapy cure for this fatal, inherited disease.
Project Shui is a Bar Mitzvah project, a boys race to find a cure for his sister with Tay-Sachs disease, and an internet marketing endeavor. All money raised by the website will go to the Cure Tay-Sachs Foundation to help accelerate a gene therapy cure for this fatal, inherited disease.
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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 ... Hexosaminidase A is a heterodimer composed of an alpha subunit (this protein) and a beta subunit. The alpha subunit polypeptide ... "Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and ...
... with one alpha, 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 homodimer of alpha chains. The two beta chains are derived from the cleavage of a precursor. Mutations in ... 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, ...
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 ...
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". ... Tay-Sachs results from mutations in the HEXA gene on chromosome 15, which encodes the alpha-subunit of beta-N- ... Total hexosaminidase enzyme activity is decreased in individuals with Tay-Sachs as is the percentage of hexosaminidase A. After ...
"Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain ... Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase ... Beta-hexosaminidase subunit beta is an enzyme that in humans is encoded by the HEXB gene. Hexosaminidase B is the beta subunit ... "Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and ...
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 ...
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 ... severe primary Hyperphalangism dysmorphy bronchomalacia Hyperphenylalaninemia Hyperphenylalaninemia due to pterin-4-alpha- ...
... beta-globins and alpha-globins. Beta-hemoglobin is created from the genetic information on the HBB, or "hemoglobin, beta" gene ... The HEXA gene makes part of an enzyme called beta-hexosaminidase A, which plays a critical role in the nervous system. This ... A single point mutation in this polypeptide chain, which is 147 amino acids long, results in the disease known as Sickle Cell ... Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, preventing the breakdown of the fatty substances. As ...
Beta-galactosidase. *Hexosaminidase. *mannosidase *alpha-Mannosidase. *beta-mannosidase. *Aspartylglucosaminidase. *Fucosidase ... The composition of the polypeptide is a single chain of six conserved polar amino acids, followed by hydrophilic, variable ... It comprises a single polypeptide chain that is oriented in the opposite direction to the hemagglutinin antigen. ...
... steroid 11-beta-hydroxylase MeSH D08.244.453.915.730 - steroid 12-alpha-hydroxylase MeSH D08.244.453.915.737 - steroid 16-alpha ... cholesterol side-chain cleavage enzyme MeSH D08.244.453.915.400 - 25-hydroxyvitamin d3 1-alpha-hydroxylase MeSH D08.244.453.915 ... hexosaminidases MeSH D08.811.277.450.483.021 - acetylglucosaminidase MeSH D08.811.277.450.483.044 - alpha-N- ... alpha-amylase MeSH D08.811.277.450.066.100 - beta-amylase MeSH D08.811.277.450.114 - beta-fructofuranosidase MeSH D08.811. ...
N-Acetyl-D-galactose-beta-1,4-[N-Acetylneuraminidate- alpha-2,3-]-Galactose-beta-1,4-glucose-alpha-ceramide GM2b(?) = aNeu5Ac(2 ... 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 ... beta-D-galactopyranose bDGalpNAc = N-acetyl-beta-D-galactopyranose bDGlcp = beta-D-glucopyranose Cer = ceramide (general N- ...
Beta-galactosidase. *Hexosaminidase. *mannosidase *alpha-Mannosidase. *beta-mannosidase. *Aspartylglucosaminidase. *Fucosidase ... Glycoproteins 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 ...
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. ... "Improved performances and control of beer fermentation using encapsulated alpha-acetolactate decarboxylase and modeling". ...
"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 ... "Glycosylation as an Inhibitor of Alpha-synuclein Aggregation". The Michael J. Fox Foundation for Parkinson's Research , ...
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.[ ... "Cathepsin D specifically cleaves the chemokines macrophage inflammatory protein-1 alpha, macrophage inflammatory protein-1 ... located on the 14 kDa and 34kDa chains.[11] The ultimate form of mature cathepsin D is composed of 337 amino acid residues, ...
For example, a combination of alpha-amylase and cellulase was shown to degrade polymicrobial bacterial biofilms from both in ... 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] ...
McCleary BV (November 1980). "New chromogenic substrates for the assay of alpha-amylase and (1 leads to 4)-beta-D-glucanase". ... Exocellulases or cellobiohydrolases (EC 3.2.1.91) cleave two to four units from the ends of the exposed chains produced by ... beta-1,4-glucanase, beta-1,4-endoglucan hydrolase, endoglucanase D, 1,4-(1,3,1,4)-beta-D-glucan 4-glucanohydrolase), ... Separation and characterization of cellulases and beta-glucosidases". The Biochemical Journal. 177 (1): 9-19. doi:10.1042/ ...
Different temperatures optimize the activity of alpha or beta amylase, resulting in different mixtures of fermentable and ... By acting at random locations along the starch chain, α-amylase breaks down long-chain saccharides, ultimately yielding either ... Main article: Alpha-amylase. The α-amylases (EC 3.2.1.1 ) (CAS 9014-71-5) (alternative names: 1,4-α-D-glucan glucanohydrolase; ... An inhibitor of alpha-amylase, called phaseolamin, has been tested as a potential diet aid.[10] ...
Beta-galactosidase. *Hexosaminidase. *mannosidase *alpha-Mannosidase. *beta-mannosidase. *Aspartylglucosaminidase. *Fucosidase ... "Photocross-linking of nascent chains to the STT3 subunit of the oligosaccharyltransferase complex". J. Cell Biol. 161 (4): 715 ... at the membrane of the endoplasmic reticulum and transferred to selected asparagine residues of nascent polypeptide chains by ...
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 ... Hexosaminidase A is a heterodimer composed of an alpha subunit (this protein) and a beta subunit. The alpha subunit polypeptide ... "Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and ...
... hexosaminidase A is an heterodimer composed of one subunit alpha and one subunit beta (chain A and B); hexosaminidase B is an ... help/chain target=_top>More...,/a>,/p>ChainiPRO_0000012008. 24 - 537. Beta-hexosaminidase subunit betaAdd BLAST. 514. ... "beta-Hexosaminidase immunolocalization and alpha- and beta-subunit gene expression in the rat testis and epididymis.". Hermo L. ... homodimer of two beta subunits (two chains A and B); hexosaminidase S is a homodimer of two alpha subunits (By similarity). The ...
... hexosaminidase A is an heterodimer composed of one subunit alpha and one subunit beta (chain A and B); hexosaminidase B is an ... help/chain target=_top>More...,/a>,/p>ChainiPRO_0000012006. 32 - 536. Beta-hexosaminidase subunit betaAdd BLAST. 505. ... CPX-689, Beta-hexosaminidase A complex. CPX-690, Beta-hexosaminidase B complex. ... CPX-689, Beta-hexosaminidase A complex. CPX-690, Beta-hexosaminidase B complex. ...
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 ... Hexosaminidase A is a heterodimer composed of an alpha subunit (this protein) and a beta subunit. The alpha subunit polypeptide ... "Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and ...
Beta-hexosaminidase alpha chain [precursor]. 15q23-q24 Torsion dystonia 1, autosomal dominant; DYT1. 128100. AD. DYT1. Torsin A ... Haemoglobin alpha chain. 16pter-p13.3. Haemoglobin-alpha locus 2; HBA2. 141850. AR. HBA2. Haemoglobin alpha subunit. 16pter- ... Collagen alpha 2(I) chain [precursor]. 7 q22.1. Osteogenesis imperfecta congenita; OIC. 166200. AD COL1A1 Collagen alpha 1(I) ... Haemoglobin-beta locus; HBB. 141900. AR. HBB. Haemoglobin beta chain. 11p15.5. Hemophagocytic lymphohistiocytosis, familial, 2 ...
... with one alpha, 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 homodimer of alpha chains. The two beta chains are derived from the cleavage of a precursor. Mutations in ... 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, ...
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> ...
Normal gene product. HEXA encodes the alpha chain of the heterodimeric protein, beta-hexosaminidase A (HEX A), also called GM2 ... 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 ... Beta-hexosaminidase subunit alpha. alsod/HEXA genetic mutations. HEXA homepage - Mendelian genes. Hexosaminidase A; Tay-Sachs ...
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 ... Hexosaminidase A is a heterodimer composed of an alpha subunit (this protein) and a beta subunit. The alpha subunit polypeptide ...
... major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase. ...
LAMP1 and beta-hexosaminidase α and β subunits), as well as proteins directly implicated in antigen presentation (e.g. H2 class ... d-D and l-D alpha chain, protein transport protein SEC61β) and proteasomal degradation (e.g. proteasome activator complex ... 1995) Beneficial effects of tumour necrosis factor-alpha (TNF-alpha) blockade in rheumatoid arthritis (RA). Clin. Exp. Immunol ... light chain 3. LTQ. linear trap quadrupole. MEF. mouse embryonic fibroblast. MHC. major histocompatibility complex. mRP-C18. ...
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. ...
Hexosaminidase Subunit Alpha, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The ... cDNA FLJ60630, highly similar to Beta-hexosaminidase alpha chain (EC 3.2.1.52) (B4DKE7_HUMAN) ... alpha-L-IdoA-(1-,3)-beta-D-GalNAc-4-sulfate-(1-,4)-alpha-L-IdoA-(1-,3)-D-GalNAc-4-sulfate + H2O = alpha-L-IdoA-(1-,3)-beta-D- ... There are 3 beta-hexosaminidase isozymes: isozyme A (hexosaminidase A) is an heterodimer composed of one subunit alpha and one ...
... 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 ... N-acetyl-beta-glucosaminidase subunit alpha.. Introduction. HEXA is the alpha subunit of the lysosomal enzyme beta- ...
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 ...
Chain. 89 - 529. Beta-hexosaminidase subunit alpha. Alternative sequence. 361 - 529. Missing. In isoform 2.. ...
beta-Hexosaminidase alpha Chain / genetics Actions. * Search in PubMed * Search in MeSH ...
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 ...
Beta-hexosaminidase alpha chain total genus 154 structure length 480 sequence length 499 ... Alpha Beta. Alpha-Beta Barrel. TIM Barrel. Glycosidases. 2gjxB02. 3.30.379.10. Alpha Beta. 2-Layer Sandwich. Chitobiase; domain ... 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 ...
Beta-hexosaminidase alpha chain. Autosomal Recessive. Tuberous Sclerosis. TSC1. 9q34. Hamartin. Autosomal Dominant. ... Long Chain 3-Hydroxyacyl-CoA. HADHA. 2p23. Mitochondrial Trifunctional Dehydrogenase Deficiency. Enzyme Alpha Subunit. ... Medium Chain Acyl-CoA. ACADM. 1p31. Acyl-CoA Dehydrogenase, Dehydrogenase Deficiency. Medium-Chain Specific. Autosomal ... Alpha-Mannosidosis. MANB. 19cen-q12. Lysosomal Alpha-Mannosidase. Autosomal Recessive. Alzheimer Disease, Early Onset Familial ...
Hex A is a dimer and has the structure alpha-beta. β-Hexosaminidase B (Hex B) is a dimer of beta chains. It hydrolyzes GM2 and ... Hexosaminidase S (Hex S) is a dimer of alpha chains; it is a normal constituent of plasma and degrades a wide range of ... With lack of beta-subunits the increased polymerization of alpha subunits leads to the increased formation of Hex S in Tay- ... The products of the 3 genes are, respectively, the alpha subunits of b-hexosaminidase A (Hex A). ...
... 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 ... Alpha subunits of b-hexosaminidase A: absence or defects of these results in Tay-Sachs disease (TSD) and its variants. ...
... due to inherited defects in the beta-subunit gene of beta-hexosaminidase A and B (Hexb gene). Accumulation of these ... beta-Hexosaminidase alpha Chain ... defects in the beta-subunit gene of beta-hexosaminidase A and B ... Engineered interferon alpha effectively improves clinical outcomes of COVID-19 patients * SARS-CoV-2 RNA viremia is associated ... Beta-Coronaviruses use lysosomal organelles for cellular egress * Serology in Children with Multisystem Inflammatory Syndrome ( ...
Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase ... N-acetyl-beta-glucosaminidase subunit beta, HCC 7, Beta hexosaminidase beta chain, Beta hexosaminidase subunit beta, Beta-N- ... HEXB chain A., HEX B, Beta-hexosaminidase subunit beta chain A, HEXB_HUMAN, Cervical cancer proto-oncogene 7 protein, ... Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator ...
Fuc alpha 1, 2Gal beta 1, 4GlcNAc), and fucosyloligosaccharides of human milk inhibit its binding and infection. J Biol Chem ... The interaction of a carbohydrate-binding module from a Clostridium perfringens N-acetyl-beta-hexosaminidase with its ... Hill WE (1996) The polymerase chain reaction: Applications for the detection of foodborne pathogens. Crit Rev Food Sci Nutr 36: ... Preferential Binding to Gangliosides Expressing Neugc-Alpha(2-3)Gal and Neuac-Alpha(2-8)Neuac. Infect Immun 61: 2108-2115Google ...
Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous ... point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient. J Biol Chem 1994;269:4819-4826. ... Multiple protein alignment highlighting the evolutionary conservation of glycine 473 in the human hexosaminidase subunit beta ( ... Subsequent hexosaminidase enzymatic testing revealed reduced total hexosaminidase activity in leukocytes (14% that of normal ...
... beta{dollar}-hexosaminidase A {dollar}\alpha{dollar}-chain exon 11 insertion which is common among Jewish TSD carriers and an ...
... is an autosomal recessive disorder that results from mutations in the alpha chain of beta-hexosaminidase A. Mixed reagents for ... Synthetic peptides from the variable region of the 4-kDa C-terminal moiety of tubulin subunits, alpha-(430-441) and beta-(422- ... Cloning of a T cell growth factor that interacts with the beta chain of the interleukin-2 receptor. ... Chinese hamster ovary (CHO) cells may express six beta 4-galactosyltransferases (beta 4GalTs). ...
... beta{dollar}-hexosaminidase A {dollar}\alpha{dollar}-chain exon 11 insertion which is common among Jewish TSD carriers and an ... alpha{dollar}H2-{dollar}\alpha{dollar}H3 motifs), as well as cellular cis-response motifs (potential SP-1, consensus AP-1, and ... The 1RS-{dollar}\alpha{dollar}-dinitrophenylecgonine methyl ester analogue had the lowest potency. IC{dollar}\sb{lcub}50{rcub}{ ... One of these compounds, 1R-{dollar}\beta{dollar}-(p-aminophenyl)ecgonine methyl ester, was designed and synthesized as a ...
Beta-hexosaminidase beta chain precursor ER(G2) - 9.96E-02 (EISEVFPDQFIHLGGDEVEFK;FNVLHWHIVDDQSFPYQSITFPELSNK;GSYSLSHVYTPNDVR; ... Lysosomal alpha-mannosidase precursor Cyto(G2) - - 1.42E-02 (ELVDYFLNVATAQGR;EQASLFAQMGFDGFFFGR) - - - 2 IPI00012989.2, ... RAC-alpha serine/threonine-protein kinase Cyto(G2,SP,GO,HPA); Nucl(SP,GO,HPA); PM(SP,GO) - 3.09E-02 (FFAGIVWQHVYEK; ... RAC-beta serine/threonine-protein kinase Cyto(G2,GO); Nucl(GO) - 3.74E-02 (FYGAEIVSALEYLHSR;LPFYNQDHER;TLSPEAKSLLAGLLKK; ...
... major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase, ... Beutler E., Kuhl W., Subunit structure of human hexosaminidase verified: interconvertibility of hexosaminidase isozymes, Nature ... Shen Y., Bodary P.F., Vargas F.B., Homeister J.W., Gordon D., Ostenso K.A., Shayman J.A., Eitzman D.T., Alpha-galactosidase A ... Conzelmann E., Kytzia H.J., Navon R., Sandhoff K., Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured ...
  • 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)
  • Tay-Sachs disease (also known as GM2 gangliosidoses or hexosaminidase-A deficiency) is an autosomal recessive genetic disorder. (centogene.com)
  • 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)
  • 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)
  • The conditions result from the accumulation of very long-chain fatty acids (VLCFAs) due to genetic deficiency in the peroxisomal oxidation of fatty acids. (radiopaedia.org)
  • The HEXA gene is a protein encoding gene that codes for the lysosomal enzyme beta-hexosaminidase. (wikipedia.org)
  • 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)
  • HEXA is the alpha subunit of the lysosomal enzyme beta-hexosaminidase which, combined with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules having N-acetyl hexosamines terminus. (prospecbio.com)
  • The alpha subunit polypeptide is encoded by the HEXA gene while the beta subunit is encoded by the HEXB gene. (wikipedia.org)
  • 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)
  • 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)
  • 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)
  • whereas, mutations in the gene encoding the alpha subunit (HEXA, this gene) decrease the hydrolysis of GM2 gangliosides, which is the main cause of Tay-Sachs disease. (wikipedia.org)
  • HEXA (Hexosaminidase Subunit Alpha) is a Protein Coding gene. (genecards.org)
  • 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)
  • 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)
  • 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)
  • Alpha subunit gene mutations can cause Tay-Sachs disease (GM2-gangliosidosis type I). (prospecbio.com)
  • 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)
  • There burned no deep ebook and the formation contains beta in this Good gene. (favorlabel.com)
  • The products of the 3 genes are, respectively, the alpha subunits of b-hexosaminidase A (Hex A). (centogene.com)
  • Alpha subunits of b-hexosaminidase A: absence or defects of these results in Tay-Sachs disease (TSD) and its variants. (patient.info)
  • Subsequent hexosaminidase enzymatic testing revealed reduced total hexosaminidase activity in leukocytes (14% that of normal controls), consistent with a GM2 gangliosidosis. (neurology.org)
  • 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)
  • 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)
  • This suggests that the presence of beta-hexosaminidase A is not an absolute requirement of ganglioside degradation in mice. (kcl.ac.uk)
  • 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)
  • Ganglioside GM1 (18:1/12:0) is a glycosphingolipid (ceramide and oligosaccharide)or oligoglycosylceramide with one or more sialic acids (i.e. n-acetylneuraminic acid) linked on the sugar chain. (hmdb.ca)
  • 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)
  • Alpha-amino-3-hydroxy-5-methylisoxazole-4-propionic acid-mediated excitotoxic axonal damage is attenuated in the absence of myelin proteolipid protein. (leukonet.de)
  • 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)
  • 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)
  • Beta subunits of Hex A: absence or defects of these results in Sandhoff's disease (SD) and its variants. (patient.info)
  • The two beta chains are derived from the cleavage of a precursor. (wikipedia.org)
  • 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)
  • During hypoxia, hypoxia inducible factor alpha (HIF) is stabilized and regulates various genes such as those involved in angiogenesis or transport of oxygen 4 . (jove.com)
  • Beta-N-acetylhexosaminidase. (edu.pl)
  • 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)
  • 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)
  • specifically, the enzyme hydrolyses terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. (wikipedia.org)
  • 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)
  • Reversion of the biochemical defects in murine embryonic Sandhoff neurons using a bicistronic lentiviral vector encoding hexosaminidase alpha and beta. (leukonet.de)
  • A combination of Arg-424 and the amino acids that cause the formation of the loop allow the alpha subunit to hydrolyze GM2 gangliosides into GM3 gangliosides by removing the N-acetylgalactosamine (GalNAc) residue from GM2 gangliosides. (wikipedia.org)
  • Beta-hexosaminidase (HEX) cleaves the terminal N-acetyl galactosamine (GalNAc) from glucosaminoglycans (GAGs) and any other molecules containing a terminal GalNAc. (reactome.org)
  • Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. (wikipedia.org)
  • Identification of the 6-sulfate binding site unique to alpha-subunit-containing isozymes of human beta-hexosaminidase. (semanticscholar.org)
  • 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)
  • epimerized processing, involved by confirmed chain of terminal chloride Strategies( ROS) in the connection, can be as a source of p40 lipid shown by the posttranslational RAS( Moiseeva et al. (evakoch.com)
  • 1991. Association between urinary N-acetyl-beta-glucosaminidase and its isoenzyme patterns and microangiopathy in type 1 Diabetes Mellitus. (freepatentsonline.com)
  • Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. (vwr.com)
  • They also produce pro-inflammatory cytokines such as tumor necrosis factor alpha (TNF-α) that mediate local and systemic responses and direct the development of adaptive immunity. (mcponline.org)
  • Such infection of monocytes stimulates cytokine production (particularly tumor necrosis factor alpha), which perturbs endothelial cell function ( 23 ). (asm.org)
  • 1 , 2 , 9 A A few previously reported misdiagnoses, involving PGD for beta-thalassemia, myotonic dystrophy (DM), fragile-X syndrome (XMR1) and cystic fibrosis (CF), might have been due to this phenomenon, which has not initially been fully realized. (glowm.com)
  • Where there are abnormal beta chains both hexosaminidase A and B will be affected. (patient.info)
  • In brief, medium to long chain fatty acids such as lauric acid are monohydroxylated by the cytochrome P450 CYP703A2, and modified to form fatty acyl CoA esters by ACYL COA SYNTHE TASE5 in tapetal cells. (checkpointsignaling.com)
  • Adrenoleukodystrophy (ALD) is an X-linked inherited metabolic peroxisomal disorder characterised by a lack of oxidation of very long chain fatty acids (VLCFAs) that results in severe inflammatory demyelination of the periventricular deep white matter with posterior-predominant pattern and early involvement of the splenium of the corpus callosum and parietal white matter changes. (radiopaedia.org)
  • It comprises a single polypeptide chain that is oriented in the opposite direction to the hemagglutinin antigen. (wikipedia.org)
  • 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)
  • 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)
  • Hexosaminidase activity can be measured in serum, leukocytes, tears and cultivated fibroblasts. (patient.info)
  • 1974. Increased beta-N-acetyl-glucosaminidase activity in diabetes mellitus. (freepatentsonline.com)
  • The alpha subunit can hydrolyze GM2 gangliosides because it contains a loop structure consisting of the amino acids: Gly-280, Ser-281, Glu-282, and Pro-283. (wikipedia.org)
  • The composition of the polypeptide is a single chain of six conserved polar amino acids, followed by hydrophilic, variable amino acids. (wikipedia.org)