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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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Kaydedildi:
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Portfolio 2025-03-01
Seri Bilgileri:Scientific Reports
Konular:
ALPK3
Hypertrophic cardiomyopathy
Genetic cardiac disease modelling
Mouse model
Mavacamten
Myofilament
Online Erişim:https://doi.org/10.1038/s41598-025-94371-w
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