"Hexosaminidase A" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D054818
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| MeSH Number(s) |
D08.811.277.450.483.180.750
|
| Concept/Terms |
Hexosaminidase A- Hexosaminidase A
- Hex A
- beta-N-Acetylhexosaminidase A
- beta N Acetylhexosaminidase A
|
Below are MeSH descriptors whose meaning is more general than "Hexosaminidase A".
Below are MeSH descriptors whose meaning is more specific than "Hexosaminidase A".
This graph shows the total number of publications written about "Hexosaminidase A" by people in this website by year, and whether "Hexosaminidase A" was a major or minor topic of these publications.
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Below are the most recent publications written about "Hexosaminidase A" by people in Profiles.
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Retrovirus-mediated enzymatic correction of Tay-Sachs defect in transduced and non-transduced cells. Hum Mol Genet. 1998 May; 7(5):831-8.
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Restoration of hexosaminidase A activity in human Tay-Sachs fibroblasts via adenoviral vector-mediated gene transfer. Gene Ther. 1996 Sep; 3(9):769-74.
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Population-specific screening by mutation analysis for diseases frequent in Ashkenazi Jews. Hum Mutat. 1996; 8(2):116-25.
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Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease. Mamm Genome. 1995 Dec; 6(12):844-9.
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Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients. Hum Mol Genet. 1993 Jan; 2(1):61-7.
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Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe. Eur J Hum Genet. 1993; 1(3):229-38.