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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...
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Главные авторы: | , , , , , , , , , , , , , , , |
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Формат: | Artigo |
Язык: | Inglês |
Опубликовано: |
Public Library of Science (PLoS)
2014-01-01
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Серии: | PLoS ONE |
Online-ссылка: | http://europepmc.org/articles/PMC4103853?pdf=render |
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