Article
Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.
Proceedings of the National Academy of Sciences of the United States of America - 1 Apr 2014
Mistry Pramod K, Liu Jun, Sun Li, Chuang Wei-Lien, Yuen Tony, Yang Ruhua, Lu Ping, Zhang Kate, Li Jianhua, Keutzer Joan, Stachnik Agnes, Mennone Albert, Boyer James L, Jain Dhanpat, Brady Roscoe O, New Maria I, Zaidi Mone
Abstract excerpt
The inherited deficiency of the lysosomal glucocerebrosidase (GBA) due to mutations in the GBA gene results in Gaucher disease (GD). A vast majority of patients present with nonneuronopathic, type 1 GD (GD1). GBA deficiency causes the accumulation of two key sphingolipids, glucosylceramide (GL-1) and glucosylsphingosine (LysoGL-1), classically noted within the lysosomes of mononuclear phagocytes. How metabolites...
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