diacetyl has been researched along with Tay-Sachs Disease in 1 studies
butane-2,3-dione : An alpha-diketone that is butane substituted by oxo groups at positions 2 and 3. It is a metabolite produced during the malolactic fermentation.
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.
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 1 (100.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Brown, CA | 1 |
Mahuran, DJ | 1 |
1 other study available for diacetyl and Tay-Sachs Disease
Article | Year |
---|---|
Active arginine residues in beta-hexosaminidase. Identification through studies of the B1 variant of Tay-Sachs disease.
Topics: Arginine; Base Sequence; beta-N-Acetylhexosaminidases; Blotting, Western; Catalysis; Cell Line; Diac | 1991 |