Article

RyR1 protein content is reduced in inflammatory and mitochondrial myopathies and induces ER stress

2023-02-03

Abstract excerpt

Decreased ryanodine receptor type 1 (RyR1) protein is a hallmark of recessive RYR1 -related myopathies ( RyR1 -RM), which are caused by recessive mutations in the RYR1 gene. It is not clear how the decrease in the RyR1 protein triggers muscular disorders. Furthermore, it is a hot topic whether a decrease in RyR1 protein levels can also occur during non- RYR1 -related myopathies. In this study, we first show that r...

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Literature Corpus work: e525c540-0677-53d7-ac0b-cd4c9d21c5c3
DOI: 10.1101/2023.02.01.23285343

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