An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten

Abstract The ALPK3 gene encodes alpha-protein kinase 3, a cardiac pseudo-kinase of unknown function. Heterozygous truncating variants (ALPK3tv) can cause dominant adult-onset hypertrophic cardiomyopathy (HCM). Here we confirm an excess of ALPK3tv in sarcomere-gene negative HCM patients. Moreover, we...

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Autors principals:	Lisa Leinhos, Paul Robinson, Giulia Poloni, Sophie Broadway-Stringer, Julia Beglov, Adam B. Lokman, Gillian Douglas, Sajjad Nuthay, Oveena Fonseka, Manuel Schmid, Evie Singer, Charlotte Hooper, Kate Thomson, Richard D. Bagnall, Jodie Ingles, Christopher Semsarian, Elizabeth Ormondroyd, Christopher N. Toepfer, Benjamin Davies, Charles Redwood, Hugh Watkins, Katja Gehmlich
Format:	Artigo
Idioma:	Inglês
Publicat:	Nature Portfolio 2025-03-01
Col·lecció:	Scientific Reports
Matèries:	ALPK3 Hypertrophic cardiomyopathy Genetic cardiac disease modelling Mouse model Mavacamten Myofilament
Accés en línia:	https://doi.org/10.1038/s41598-025-94371-w
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