Article
Proteasome inhibitors improve the function of mutant lysosomal α-glucosidase in fibroblasts from Pompe disease patient carrying c.546G>T mutation.
Biochemical and biophysical research communications - 18 Nov 2011
Shimada Yohta, Nishida Hikaru, Nishiyama Yurika, Kobayashi Hiroshi, Higuchi Takashi, Eto Yoshikatsu, Ida Hiroyuki, Ohashi Toya
Abstract excerpt
Pompe disease (glycogen storage disease type II) is an autosomal recessive myopathic disorder arising from the deficiency of lysosomal acid α-glucosidase (GAA). Recently, we found that mutant GAA in patient fibroblasts carrying c.546G>T mutation is stabilized by treatment with proteasome inhibitor as well as pharmacological chaperon N-butyl-deoxynojirimycin. In this study, we characterized the effect of two...
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