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   Articles with "jph2" as a keyword



Nuclear localization of a novel calpain-2 mediated junctophilin-2 C-terminal cleavage peptide promotes cardiomyocyte remodeling

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recommendations! Published in 2020 at "Basic Research in Cardiology"

DOI: 10.1007/s00395-020-0807-1

Abstract: Heart failure (HF) is a leading cause of morbidity and mortality worldwide. Patients with HF exhibit a loss of junctophilin-2 (JPH2), a structural protein critical in forming junctional membrane complexes in which excitation–contraction takes place.… read more here.

Keywords: nuclear localization; cleavage; jph2 ctp; jph2 ... See more keywords

S165F mutation-induced Junctophilin-2 autoinhibition impairs Ca2+ signaling in hypertrophic cardiomyopathy.

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recommendations! Published in 2025 at "Communications biology"

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

Abstract 4366525: International JPH2 Registry: The Penetrance and Phenotypic Spectrum of JPH2 -mediated Cardiac Disease

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recommendations! Published in 2025 at "Circulation"

DOI: 10.1161/circ.152.suppl_3.4366525

Abstract: Background: Variants in JPH2 -encoded junctophilin 2 have been associated with a range of cardiac diseases, including hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmias, and sudden cardiac death. Despite these associations, due to its rarity, there is… read more here.

Keywords: disease; penetrance; heart; jph2 ... See more keywords

Analysis of Cardiac Myocyte Maturation Using CASAAV, a Platform for Rapid Dissection of Cardiac Myocyte Gene Function In Vivo

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recommendations! Published in 2017 at "Circulation Research"

DOI: 10.1161/circresaha.116.310283

Abstract: Rationale: Loss-of-function studies in cardiac myocytes (CMs) are currently limited by the need for appropriate conditional knockout alleles. The factors that regulate CM maturation are poorly understood. Previous studies on CM maturation have been confounded… read more here.

Keywords: cms; jph2; cardiac myocyte; function ... See more keywords