Cardiac myosin-binding protein C in hypertrophic cardiomyopathy: Mechanisms and therapeutic opportunities.

Saskia Schlossarek; Giulia Mearini; Lucie Carrier

doi:10.1016/j.yjmcc.2011.01.014

Cardiac myosin-binding protein C in hypertrophic cardiomyopathy: Mechanisms and therapeutic opportunities.

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Cardiac myosin-binding protein C in hypertrophic cardiomyopathy: Mechanisms and therapeutic opportunities. / Schlossarek, Saskia; Mearini, Giulia; Carrier, Lucie.

In: J MOL CELL CARDIOL, Vol. 50, No. 4, 4, 01.04.2011, p. 613-620.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Schlossarek, S, Mearini, G & Carrier, L 2011, 'Cardiac myosin-binding protein C in hypertrophic cardiomyopathy: Mechanisms and therapeutic opportunities.', J MOL CELL CARDIOL, vol. 50, no. 4, 4, pp. 613-620. https://doi.org/10.1016/j.yjmcc.2011.01.014

APA

Schlossarek, S., Mearini, G., & Carrier, L. (2011). Cardiac myosin-binding protein C in hypertrophic cardiomyopathy: Mechanisms and therapeutic opportunities. J MOL CELL CARDIOL, 50(4), 613-620. [4]. https://doi.org/10.1016/j.yjmcc.2011.01.014

Vancouver

Schlossarek S, Mearini G, Carrier L. Cardiac myosin-binding protein C in hypertrophic cardiomyopathy: Mechanisms and therapeutic opportunities. J MOL CELL CARDIOL. 2011 Apr 1;50(4):613-620. 4. https://doi.org/10.1016/j.yjmcc.2011.01.014

Bibtex

@article{1376ddaaa15047bdbf7ca00bc44c145e,

title = "Cardiac myosin-binding protein C in hypertrophic cardiomyopathy: Mechanisms and therapeutic opportunities.",

abstract = "Cardiac myosin-binding protein C (cMyBP-C) is a component of the thick filaments of the sarcomere. Understanding the structural and functional role of cMyBP-C in the heart is clinically relevant since cMyBP-C gene mutations are a widely recognized cause of hypertrophic cardiomyopathy (HCM), which affects 0.2% of the general population. Nonsense and frameshift mutations are common in cMyBP-C and their expressions are regulated by three quality control systems, the nonsense-mediated mRNA decay, ubiquitin-proteasome system, and autophagy, which contribute to minimize the production of potential poison mutant proteins. This review discusses the structural and regulatory functions of cMyBP-C, the molecular mechanisms involved in cMyBP-C-related HCM, as well as potential causative therapies for HCM.",

keywords = "Animals, Cardiomyopathy, Hypertrophic, Carrier Proteins, Humans, Mutation, Proteasome Endopeptidase Complex, Ubiquitin",

author = "Saskia Schlossarek and Giulia Mearini and Lucie Carrier",

year = "2011",

month = apr,

day = "1",

doi = "10.1016/j.yjmcc.2011.01.014",

language = "English",

volume = "50",

pages = "613--620",

journal = "J MOL CELL CARDIOL",

issn = "0022-2828",

publisher = "Academic Press Inc.",

number = "4",

}

RIS

TY - JOUR

T1 - Cardiac myosin-binding protein C in hypertrophic cardiomyopathy: Mechanisms and therapeutic opportunities.

AU - Schlossarek, Saskia

AU - Mearini, Giulia

AU - Carrier, Lucie

PY - 2011/4/1

Y1 - 2011/4/1

N2 - Cardiac myosin-binding protein C (cMyBP-C) is a component of the thick filaments of the sarcomere. Understanding the structural and functional role of cMyBP-C in the heart is clinically relevant since cMyBP-C gene mutations are a widely recognized cause of hypertrophic cardiomyopathy (HCM), which affects 0.2% of the general population. Nonsense and frameshift mutations are common in cMyBP-C and their expressions are regulated by three quality control systems, the nonsense-mediated mRNA decay, ubiquitin-proteasome system, and autophagy, which contribute to minimize the production of potential poison mutant proteins. This review discusses the structural and regulatory functions of cMyBP-C, the molecular mechanisms involved in cMyBP-C-related HCM, as well as potential causative therapies for HCM.

AB - Cardiac myosin-binding protein C (cMyBP-C) is a component of the thick filaments of the sarcomere. Understanding the structural and functional role of cMyBP-C in the heart is clinically relevant since cMyBP-C gene mutations are a widely recognized cause of hypertrophic cardiomyopathy (HCM), which affects 0.2% of the general population. Nonsense and frameshift mutations are common in cMyBP-C and their expressions are regulated by three quality control systems, the nonsense-mediated mRNA decay, ubiquitin-proteasome system, and autophagy, which contribute to minimize the production of potential poison mutant proteins. This review discusses the structural and regulatory functions of cMyBP-C, the molecular mechanisms involved in cMyBP-C-related HCM, as well as potential causative therapies for HCM.

KW - Animals

KW - Cardiomyopathy, Hypertrophic

KW - Carrier Proteins

KW - Humans

KW - Mutation

KW - Proteasome Endopeptidase Complex

KW - Ubiquitin

U2 - 10.1016/j.yjmcc.2011.01.014

DO - 10.1016/j.yjmcc.2011.01.014

M3 - SCORING: Journal article

C2 - 21291890

VL - 50

SP - 613

EP - 620

JO - J MOL CELL CARDIOL

JF - J MOL CELL CARDIOL

SN - 0022-2828

IS - 4

M1 - 4

ER -