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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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Bibliografske podrobnosti
Main Authors: Liu, Yujing, Hoffmann, Alexander, Grinberg, Alexander, Westphal, Heiner, McDonald, Michael P., Miller, Katherine M., Crawley, Jacqueline N., Sandhoff, Konrad, Suzuki, Kinuko, Proia, Richard L.
Format: Artigo
Jezik:Inglês
Izdano: The National Academy of Sciences of the USA 1997
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC21570/
https://ncbi.nlm.nih.gov/pubmed/9223328
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