Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease

Pompe disease, a rare lysosomal storage disease caused by deficiency of the lysosomal acid α-glucosidase (GAA), is characterized by glycogen accumulation, triggering severe secondary cellular damage and resulting in progressive motor handicap and premature death. Numerous disease-causing mutations i...

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Detaylı Bibliyografya
Yayımlandı:Nat Commun
Asıl Yazarlar: Roig-Zamboni, Véronique, Cobucci-Ponzano, Beatrice, Iacono, Roberta, Ferrara, Maria Carmina, Germany, Stanley, Bourne, Yves, Parenti, Giancarlo, Moracci, Marco, Sulzenbacher, Gerlind
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group UK 2017
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5653652/
https://ncbi.nlm.nih.gov/pubmed/29061980
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-017-01263-3
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