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

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

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...

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Bibliographic Details
Main Authors: Guillermo Tarrasó, Alberto Real-Martinez, Marta Parés, Lídia Romero-Cortadellas, Laura Puigros, Laura Moya, Noemí de Luna, Astrid Brull, Miguel Angel Martín, Joaquin Arenas, Alejandro Lucia, Antoni L. Andreu, Jordi Barquinero, John Vissing, Thomas O. Krag, Tomàs Pinós
Format: Article
Language:English
Published: The Company of Biologists 2020-01-01
Series:Disease Models & Mechanisms
Subjects:
mcardle disease
metabolic myopathy
premature termination codon
read-through
cellular models
Online Access:http://dmm.biologists.org/content/13/1/dmm043281

Internet

http://dmm.biologists.org/content/13/1/dmm043281

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