An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially resc...
An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten
About this item
Full title
Author / Creator
Leinhos, Lisa , Robinson, Paul , Poloni, Giulia , Broadway-Stringer, Sophie , Beglov, Julia , Lokman, Adam B. , Douglas, Gillian , Nuthay, Sajjad , Fonseka, Oveena , Schmid, Manuel , Singer, Evie , Hooper, Charlotte , Thomson, Kate , Bagnall, Richard D. , Ingles, Jodie , Semsarian, Christopher , Ormondroyd, Elizabeth , Toepfer, Christopher N. , Davies, Benjamin , Redwood, Charles , Watkins, Hugh and Gehmlich, Katja
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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...
Alternative Titles
Full title
An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten
Authors, Artists and Contributors
Author / Creator
Robinson, Paul
Poloni, Giulia
Broadway-Stringer, Sophie
Beglov, Julia
Lokman, Adam B.
Douglas, Gillian
Nuthay, Sajjad
Fonseka, Oveena
Schmid, Manuel
Singer, Evie
Hooper, Charlotte
Thomson, Kate
Bagnall, Richard D.
Ingles, Jodie
Semsarian, Christopher
Ormondroyd, Elizabeth
Toepfer, Christopher N.
Davies, Benjamin
Redwood, Charles
Watkins, Hugh
Gehmlich, Katja
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_02ca8a1222cb4394b889b537f8def151
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_02ca8a1222cb4394b889b537f8def151
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-025-94371-w
