Page last updated: 2024-10-16

choline and Sandhoff Disease

choline has been researched along with Sandhoff Disease in 1 studies

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.

Research Excerpts

ExcerptRelevanceReference
"Sandhoff disease is a progressive neurodegenerative disorder caused by mutations in the HEXB gene which encodes for the beta-subunit of beta-hexosaminidase A and B, resulting in ganglioside GM(2) accumulation in the brain."1.32Phospholipid synthesis is decreased in neuronal tissue in a mouse model of Sandhoff disease. ( Bodennec, J; Buccoliero, R; Futerman, AH; Sandhoff, K; Van Echten-Deckert, G, 2004)

Research

Studies (1)

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

Authors

AuthorsStudies
Buccoliero, R1
Bodennec, J1
Van Echten-Deckert, G1
Sandhoff, K1
Futerman, AH1

Other Studies

1 other study available for choline and Sandhoff Disease

ArticleYear
Phospholipid synthesis is decreased in neuronal tissue in a mouse model of Sandhoff disease.
    Journal of neurochemistry, 2004, Volume: 90, Issue:1

    Topics: Animals; beta-N-Acetylhexosaminidases; Brain; Carbon Radioisotopes; CDPdiacylglycerol-Serine O-Phosp

2004