| http://purl.uniprot.org/citations/26358504 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26358504 | http://www.w3.org/2000/01/rdf-schema#comment | "More than 350 individual MYPBC3 mutations have been identified in patients with inherited hypertrophic cardiomyopathy (HCM), thus representing 40–50% of all HCM mutations, making it the most frequently mutated gene in HCM. HCM is considered a disease of the sarcomere and is characterized by left ventricular hypertrophy, myocyte disarray and diastolic dysfunction. MYBPC3 encodes for the thick filament associated protein cardiac myosin-binding protein C (cMyBP-C), a signaling node in cardiac myocytes that contributes to the maintenance of sarcomeric structure and regulation of contraction and relaxation. This review aims to provide a succinct overview of how mutations in MYBPC3 are considered to affect the physiological function of cMyBP-C, thus causing the deleterious consequences observed inHCM patients. Importantly, recent advances to causally treat HCM by repairing MYBPC3 mutations by gene therapy are discussed here, providing a promising alternative to heart transplantation for patients with a fatal form of neonatal cardiomyopathy due to bi-allelic truncating MYBPC3 mutations."xsd:string |
| http://purl.uniprot.org/citations/26358504 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.gene.2015.09.008"xsd:string |
| http://purl.uniprot.org/citations/26358504 | http://purl.uniprot.org/core/author | "Carrier L."xsd:string |
| http://purl.uniprot.org/citations/26358504 | http://purl.uniprot.org/core/author | "Cuello F."xsd:string |
| http://purl.uniprot.org/citations/26358504 | http://purl.uniprot.org/core/author | "Mearini G."xsd:string |
| http://purl.uniprot.org/citations/26358504 | http://purl.uniprot.org/core/author | "Stathopoulou K."xsd:string |
| http://purl.uniprot.org/citations/26358504 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
| http://purl.uniprot.org/citations/26358504 | http://purl.uniprot.org/core/name | "Gene"xsd:string |
| http://purl.uniprot.org/citations/26358504 | http://purl.uniprot.org/core/pages | "188-197"xsd:string |
| http://purl.uniprot.org/citations/26358504 | http://purl.uniprot.org/core/title | "Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology."xsd:string |
| http://purl.uniprot.org/citations/26358504 | http://purl.uniprot.org/core/volume | "573"xsd:string |
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