S165F mutation-induced Junctophilin-2 autoinhibition impairs Ca2+ signaling in hypertrophic cardiomyopathy.
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DOI: 10.1038/s42003-025-09244-9
Abstract: Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disorder often linked to mutations in various genes, including junctophilin-2 (JPH2), a key non-sarcomeric protein essential for forming junctional membrane complexes between the plasma membrane (PM) and… read more here.
Keywords: ca2 signaling; jph2; mutation; s165f mutation ... See more keywords