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Article

Gain-of-function variants in GSDME cause pyroptosis and apoptosis associated with post-lingual hearing loss

27 Jul 2024

Abstract excerpt

Gasdermin E (GSDME), a member of the gasdermin protein family, is associated with post-lingual hearing loss. All GSDME pathogenic mutations lead to skipping exon 8; however, the molecular mechanisms underlying hearing loss caused by GSDME mutants remain unclear. GSDME was recently identified as one of the mediators of programmed cell death, including apoptosis and pyroptosis. Therefore, in this study, we injected...

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PMID: 39066985
DOI: 10.1007/s00439-024-02694-x

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