Page last updated: 2024-10-18

diacetyl and Tay-Sachs Disease

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.

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (100.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Brown, CA1
Mahuran, DJ1

Other Studies

1 other study available for diacetyl and Tay-Sachs Disease

ArticleYear
Active arginine residues in beta-hexosaminidase. Identification through studies of the B1 variant of Tay-Sachs disease.
    The Journal of biological chemistry, 1991, Aug-25, Volume: 266, Issue:24

    Topics: Arginine; Base Sequence; beta-N-Acetylhexosaminidases; Blotting, Western; Catalysis; Cell Line; Diac

1991