Absence of p.R50X Pygm read-through in McArdle disease cellular models

• Автори: Guillermo Tarrasó (Автор), Alberto Real-Martinez (Автор), Marta Parés (Автор), Lídia Romero-Cortadellas (Автор), Laura Puigros (Автор), Laura Moya (Автор), Noemí de Luna (Автор), Astrid Brull (Автор), Miguel Angel Martín (Автор), Joaquin Arenas (Автор), Alejandro Lucia (Автор), Antoni L. Andreu (Автор), Jordi Barquinero (Автор), John Vissing (Автор), Thomas O. Krag (Автор), Tomàs Pinós (Автор)
• Формат: Книга
• Опубліковано: The Company of Biologists, 2020-01-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: Connect to this object online.

McArdle disease is an autosomal recessive disorder caused by the absence of muscle glycogen phosphorylase, which leads to blocked muscle glycogen breakdown. We used three different cellular models to evaluate the efficiency of different read-through agents (including amlexanox, Ataluren, RTC13 and G...