Article

The D84G mutation in STIM1 causes nuclear envelope dysfunction and myopathy in mice

2023-05-04

Abstract excerpt

Stromal interaction molecule 1 (STIM1) is a Ca 2+ sensor located in the sarcoplasmic reticulum (SR) of skeletal muscle where it is best known for its role in store operated Ca 2+ entry (SOCE). Genetic syndromes resulting from STIM1 mutations are recognized as a cause of muscle weakness and atrophy. Here, we focus on a gain of function mutation that occurs in humans and mice (STIM1 +/D84G mice) where muscles exh...

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Literature Corpus work: f328d3d1-1fd1-5f4d-b5e5-27079c51d6ac
DOI: 10.1101/2023.05.03.539279

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