Article
Absence of p.R50X Pygm read-through in McArdle disease cellular models.
Disease models & mechanisms - 13 Jan 2020
Tarrasó Guillermo, Real-Martinez Alberto, Parés Marta, Romero-Cortadellas Lídia, Puigros Laura, Moya Laura, de Luna Noemí, Brull Astrid, Martín Miguel Angel, Arenas Joaquin, Lucia Alejandro, Andreu Antoni L, Barquinero Jordi, Vissing John, Krag Thomas O, Pinós Tomàs
Abstract excerpt
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 G418) in McArdle disease. The first model consisted of HeLa cells transfected with two different GFP-PYGM constructs...
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