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

• Main Authors: Guillermo Tarrasó (Author), Alberto Real-Martinez (Author), Marta Parés (Author), Lídia Romero-Cortadellas (Author), Laura Puigros (Author), Laura Moya (Author), Noemí de Luna (Author), Astrid Brull (Author), Miguel Angel Martín (Author), Joaquin Arenas (Author), Alejandro Lucia (Author), Antoni L. Andreu (Author), Jordi Barquinero (Author), John Vissing (Author), Thomas O. Krag (Author), Tomàs Pinós (Author)
• Format: Book
• Published: The Company of Biologists, 2020-01-01T00:00:00Z.
• Subjects: article
• Online Access: 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...