Specific saposin C deficiency: CNS impairment and acid β-glucosidase effects in the mouse

Saposins A, B, C and D are derived from a common precursor, prosaposin (psap). The few patients with saposin C deficiency develop a Gaucher disease-like central nervous system (CNS) phenotype attributed to diminished glucosylceramide (GC) cleavage activity by acid β-glucosidase (GCase). The in vivo...

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Main Authors: Sun, Ying, Ran, Huimin, Zamzow, Matt, Kitatani, Kazuyuki, Skelton, Matthew R., Williams, Michael T., Vorhees, Charles V., Witte, David P., Hannun, Yusuf A., Grabowski, Gregory A.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2010
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2807372/
https://ncbi.nlm.nih.gov/pubmed/20015957
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp531
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