Discovery of a novel non-iminosugar acid alpha glucosidase chaperone series

Pompe disease is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the lysosomal enzyme acid alpha glucosidase (GAA). Many disease-causing mutated GAA retain enzymatic activity, but are not translocated from endoplasmic reticulum (ER) to lysosomes. Enzyme replacement th...

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Autors principals: Xiao, Jingbo, Westbroek, Wendy, Motabar, Omid, Lea, Wendy A., Hu, Xin, Velayati, Arash, Zheng, Wei, Southall, Noel, Gustafson, Ann Marie, Goldin, Ehud, Sidransky, Ellen, Liu, Ke, Simeonov, Anton, Tamargo, Rafael J., Ribes, Antonia, Matalonga, Leslie, Ferrer, Marc, Marugan, Juan J.
Format: Artigo
Idioma:Inglês
Publicat: 2012
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3448374/
https://ncbi.nlm.nih.gov/pubmed/22834902
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/jm3005543
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