ArticlePloS one2013
Molecular modeling of disease causing mutations in domain C1 of cMyBP-C.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 20 citations in OpenAlex.
- Functional Characterization of theInternational journal of molecular sciences · 2022Article
- Clinical, Genetic and Functional Characterization of a NovelJournal of personalized medicine · 2022Article
- Multiscale Models of Cardiac Muscle Biophysics and Tissue Remodeling in Hypertrophic Cardiomyopathies.Current opinion in biomedical engineering · 2019Article
- In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies.Human mutation · 2019Article
- Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss.European journal of human genetics : EJHG · 2019Article
- N-Terminal Domains of Cardiac Myosin Binding Protein C Cooperatively Activate the Thin Filament.Structure (London, England : 1993) · 2018Article
- Two patients with Canavan disease and structural modeling of a novel mutation.Metabolic brain disease · 2017Article
- Structural modeling of p.V31F variant in the aspartoacylase gene.Metabolic brain disease · 2016Article
- Decade in review--cardiomyopathies: Cardiomyopathy on the move.Nature reviews. Cardiology · 2014Article
- Cardiac myosin binding protein-C: a structurally dynamic regulator of myocardial contractility.Pflugers Archiv : European journal of physiology · 2014Review
- Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy.The application of clinical genetics · 2014Review
- Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cardiac myosin binding protein-C (cMyBP-C) is a multi-domain (C0-C10) protein that regulates heart muscle contraction through interaction with myosin, actin and other sarcomeric proteins. Several mutations of this protein cause familial hypertrophic cardiomyopathy (HCM). Domain C1 of cMyBP-C plays a central role in protein interactions with actin and myosin. Here, we studied structure-function relationship of three disease causing mutations, Arg177His, Ala216Thr and Glu258Lys of the domain C1 using computational biology techniques with its available X-ray crystal structure. The results suggest that each mutation could affect structural properties of the domain C1, and hence it's structural integrity through modifying intra-molecular arrangements in a distinct mode. The mutations also change surface charge distributions, which could impact the binding of C1 with other sarcomeric proteins thereby affecting contractile function. These structural consequences of the C1 mutants could be valuable to understand the molecular mechanisms for the disease.
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