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An <i>ALPK3</i> truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten

2024-09-30

Abstract excerpt

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 generated a novel knock-in mouse model carrying an ALPK3tv (K201X). Homozygous animals displayed hypertrophy and systol...

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Identifiers and source

Literature Corpus work
6a698c1a-278c-55b8-8f37-da99425e26ae
DOI
10.1101/2024.09.30.615779
Open publication

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An <i>ALPK3</i> truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamtenDOI 10.1101/2024.09.30.615779
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