Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits

Gaucher disease is caused by defective acid β-glucosidase (GCase) function. Saposin C is a lysosomal protein needed for optimal GCase activity. To test the in vivo effects of saposin C on GCase, saposin C deficient mice (C−/−) were backcrossed to point mutated GCase (V394L/V394L) mice. The resultant...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Sun, Ying, Liou, Benjamin, Ran, Huimin, Skelton, Matthew R., Williams, Michael T., Vorhees, Charles V., Kitatani, Kazuyuki, Hannun, Yusuf A., Witte, David P., Xu, You-Hai, Grabowski, Gregory A.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2010
Assuntos:
Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2830832/
https://ncbi.nlm.nih.gov/pubmed/20047948
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp580
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados