Chemical chaperones increase the cellular activity of N370S β-glucosidase: A therapeutic strategy for Gaucher disease

Gaucher disease is a lysosomal storage disorder caused by deficient lysosomal β-glucosidase (β-Glu) activity. A marked decrease in enzyme activity results in progressive accumulation of the substrate (glucosylceramide) in macrophages, leading to hepatosplenomegaly, anemia, skeletal lesions, and some...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Sawkar, Anu R., Cheng, Wei-Chieh, Beutler, Ernest, Wong, Chi-Huey, Balch, William E., Kelly, Jeffery W.
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2002
Témata:
Biological Sciences
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC137733/
https://ncbi.nlm.nih.gov/pubmed/12434014
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.192582899
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky