Mouse model of G(M2 )activator deficiency manifests cerebellar pathology and motor impairment

The G(M2) activator deficiency (also known as the AB variant), Tay–Sachs disease, and Sandhoff disease are the major forms of the G(M2) gangliosidoses, disorders caused by defective degradation of G(M2) ganglioside. Tay–Sachs and Sandhoff diseases are caused by mutations in the genes (HEXA and HEXB)...

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Autori principali: Liu, Yujing, Hoffmann, Alexander, Grinberg, Alexander, Westphal, Heiner, McDonald, Michael P., Miller, Katherine M., Crawley, Jacqueline N., Sandhoff, Konrad, Suzuki, Kinuko, Proia, Richard L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: The National Academy of Sciences of the USA 1997
Soggetti:
Biological Sciences
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC21570/
https://ncbi.nlm.nih.gov/pubmed/9223328
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