Cardiac myosin-binding protein C: hypertrophic cardiomyopathy mutations and structure–function relationships

Cardiac myosin-binding protein C: hypertrophic cardiomyopathy mutations and structure–function relationships

Cardiac myosin-binding protein C (cMyBP-C) research has been characterized by two waves. Initial interest was piqued by its discovery in 1973 as a contaminant of myosin preparations from skeletal muscle. The second wave started in 1995 by the discovery that mutations in the gene encoding cMyBP-C cau...

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Veröffentlicht in:Pflügers Archiv 2014-02, Vol.466 (2), p.201-206
Hauptverfasser: Sequeira, Vasco, Witjas-Paalberends, E. Rosalie, Kuster, Diederik W. D., van der Velden, Jolanda
Format: Artikel
Sprache:eng
Schlagworte:
Biomedical and Life Sciences
Biomedicine
Cardiomyopathy, Hypertrophic - genetics
Cardiomyopathy, Hypertrophic - physiopathology
Carrier Proteins - genetics
Carrier Proteins - metabolism
Cell Biology
Human Physiology
Humans
Invited Review
Molecular Medicine
Mutation
Myocardial Contraction - drug effects
Myocardial Contraction - physiology
Myocardium - metabolism
Myocytes, Cardiac - physiology
Neurosciences
Receptors
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Zusammenfassung:Cardiac myosin-binding protein C (cMyBP-C) research has been characterized by two waves. Initial interest was piqued by its discovery in 1973 as a contaminant of myosin preparations from skeletal muscle. The second wave started in 1995 by the discovery that mutations in the gene encoding cMyBP-C cause hypertrophic cardiomyopathy (HCM). In this review, we will address what is known of cMyBP-C's role as a regulator of contraction as well as its role in HCM.
ISSN:0031-6768
1432-2013
DOI:10.1007/s00424-013-1400-3