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Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe Disease

Pompe disease is an autosomal recessive myopathic disorder caused by the deficiency of lysosomal acid α-glucosidase (GAA). Recently, we showed that function of mutant GAA in fibroblasts derived from Pompe disease patient carrying c.546G>T mutation is improved by treatment with proteasome inhibito...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Shimada, Yohta, Nishimura, Erica, Hoshina, Hiroo, Kobayashi, Hiroshi, Higuchi, Takashi, Eto, Yoshikatsu, Ida, Hiroyuki, Ohashi, Toya
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4361917/
https://ncbi.nlm.nih.gov/pubmed/25256446
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_345
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