Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl

Gaucher disease (GD), the most common lysosomal storage disorder of humans, is caused by mutations in the gene coding for the enzyme glucocerebrosidase (GCase). Clinical manifestations vary among patients with the three types of GD, and phenotypic heterogeneity occurs even among patients with identi...

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Autori principali: Lu, Jie, Chiang, Jeffrey, Iyer, Rajiv R., Thompson, Eli, Kaneski, Christine R., Xu, David S., Yang, Chunzhang, Chen, Masako, Hodes, Richard J., Lonser, Russell R., Brady, Roscoe O., Zhuang, Zhengping
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2010
Soggetti:
Biological Sciences
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3003013/
https://ncbi.nlm.nih.gov/pubmed/21098288
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1014376107
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