Mutation of β-glucosidase 2 causes glycolipid storage disease and impaired male fertility

β-Glucosidase 2 (GBA2) is a resident enzyme of the endoplasmic reticulum thought to play a role in the metabolism of bile acid–glucose conjugates. To gain insight into the biological function of this enzyme and its substrates, we generated mice deficient in GBA2 and found that these animals had norm...

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Библиографические подробности
Главные авторы: Yildiz, Yildiz, Matern, Heidrun, Thompson, Bonne, Allegood, Jeremy C., Warren, Rebekkah L., Ramirez, Denise M.O., Hammer, Robert E., Hamra, F. Kent, Matern, Siegfried, Russell, David W.
Формат: Artigo
Язык:Inglês
Опубликовано: American Society for Clinical Investigation 2006
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1626112/
https://ncbi.nlm.nih.gov/pubmed/17080196
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI29224
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