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Article

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

The Journal of clinical investigation - 1 Feb 2024

Bryson Victoria, Wang Chaojian, Zhou Zirui, Singh Kavisha, Volin Noah, Yildirim Eda, Rosenberg Paul

Abstract excerpt

Stromal interaction molecule 1 (STIM1) is a Ca2+ sensor located in the sarcoplasmic reticulum (SR) of skeletal muscle, where it is best known for its role in store-operated Ca2+ entry (SOCE). Genetic syndromes resulting from STIM1 mutations are recognized as a cause of muscle weakness and atrophy. Here, we focused on a gain-of-function mutation that occurs in humans and mice (STIM1+/D84G mice), in which muscles...

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Identifiers

PMID: 38300705
DOI: 10.1172/JCI170317
PMCID: PMC10977986

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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