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Article

Nonsense mediated decay factor UPF3B is associated with cMyBP-C haploinsufficiency in hypertrophic cardiomyopathy patients.

Journal of molecular and cellular cardiology - 1 Dec 2023

Burkart Valentin, Kowalski Kathrin, Disch Alina, Hilfiker-Kleiner Denise, Lal Sean, Dos Remedios Cristobal, Perrot Andreas, Zeug Andre, Ponimaskin Evgeni, Kosanke Maike, Dittrich-Breiholz Oliver, Kraft Theresia, Montag Judith

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited cardiac disease. Up to 40% of cases are associated with heterozygous mutations in myosin binding protein C (cMyBP-C, MYBPC3). Most of these mutations lead to premature termination codons (PTC) and patients show reduction of functional cMyBP-C. This so-called haploinsufficiency most likely contributes to disease development. We analyzed mechanisms...

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Share to Cardiomyopathy and Myosin Studies
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 37797718
DOI: 10.1016/j.yjmcc.2023.09.008

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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