The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease.

Pompe disease is an inherited lysosomal storage disorder that results from a deficiency in acid α-glucosidase (GAA) activity due to mutations in the GAA gene. Pompe disease is characterized by accumulation of lysosomal glycogen primarily in heart and skeletal muscles, which leads to progressive musc...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Richie Khanna, Allan C Powe, Yi Lun, Rebecca Soska, Jessie Feng, Rohini Dhulipala, Michelle Frascella, Anadina Garcia, Lee J Pellegrino, Su Xu, Nastry Brignol, Matthew J Toth, Hung V Do, David J Lockhart, Brandon A Wustman, Kenneth J Valenzano
التنسيق: Artigo
اللغة:Inglês
منشور في: Public Library of Science (PLoS) 2014-01-01
سلاسل:PLoS ONE
الوصول للمادة أونلاين:http://europepmc.org/articles/PMC4103853?pdf=render
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