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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Detalhes bibliográficos
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.
Formato: Artigo
Idioma:Inglês
Publicado em: The National Academy of Sciences of the USA 1997
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC21570/
https://ncbi.nlm.nih.gov/pubmed/9223328
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