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Abstract 20232: Haploinsufficiency of MYBPC3 in the Development of Hypertrophic Cardiomyopathy
Circulation, 2014Introduction: Mutations in MYBPC3, encoding cardiac myosin binding protein-C (cMyBP-C), account for ~40% of hypertrophic cardiomyopathy (HCM) cases. MYBPC3 mutations are usually encode truncated proteins and are not found in tissue and are typically heterozygous (Het) in humans.
David Barefield +6 more
openaire +1 more source
Defective proteolytic systems in Mybpc3-targeted mice with cardiac hypertrophy
Basic Research in Cardiology, 2011Several lines of evidence suggest that alterations of the ubiquitin-proteasome system (UPS) and autophagy-lysosome pathway (ALP) may be involved in cardiac diseases. Little is known, however, in hypertrophic cardiomyopathy (HCM). This study studied these pathways in two mouse models of HCM that mainly differ by the presence or absence of truncated ...
Schlossarek S +5 more
openaire +2 more sources
Is Haploinsufficiency a Sufficient Mechanism for MYBPC3 Truncating Mutations?
Journal of General Physiology, 2023David Y Barefield
exaly
How Do MYBPC3 Mutations Cause Hypertrophic Cardiomyopathy?
Journal of Muscle Research and Cell Motility, 2012Steven B Marston +2 more
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Cryptic Splice-Altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy
Circulation Genomic and Precision Medicine, 2020Lorenzo Monserrat +2 more
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