Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice

Gaucher disease, a prevalent lysosomal storage disease (LSD), is caused by insufficient activity of acid β-glucosidase (GCase) and the resultant glucosylceramide (GC)/glucosylsphingosine (GS) accumulation in visceral organs (Type 1) and the central nervous system (Types 2 and 3). Recent clinical and...

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Détails bibliographiques
Auteurs principaux: Xu, You-hai, Xu, Kui, Sun, Ying, Liou, Benjamin, Quinn, Brian, Li, Rong-hua, Xue, Ling, Zhang, Wujuan, Setchell, Kenneth D.R., Witte, David, Grabowski, Gregory A.
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2014
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Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4082362/
https://ncbi.nlm.nih.gov/pubmed/24599400
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu105
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