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MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction

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MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction. / Behrens-Gawlik, Verena; Mearini, Giulia; Gedicke-Hornung, Christina; Richard, Pascale; Carrier, Lucie.

In: PFLUG ARCH EUR J PHY, Vol. 466, No. 2, 01.02.2014, p. 215-223.

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

Harvard

Behrens-Gawlik, V, Mearini, G, Gedicke-Hornung, C, Richard, P & Carrier, L 2014, 'MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction', PFLUG ARCH EUR J PHY, vol. 466, no. 2, pp. 215-223. https://doi.org/10.1007/s00424-013-1409-7

APA

Behrens-Gawlik, V., Mearini, G., Gedicke-Hornung, C., Richard, P., & Carrier, L. (2014). MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction. PFLUG ARCH EUR J PHY, 466(2), 215-223. https://doi.org/10.1007/s00424-013-1409-7

Vancouver

Behrens-Gawlik V, Mearini G, Gedicke-Hornung C, Richard P, Carrier L. MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction. PFLUG ARCH EUR J PHY. 2014 Feb 1;466(2):215-223. https://doi.org/10.1007/s00424-013-1409-7

Bibtex

@article{e6a3f58e3ae14af28b04b67ea5753e3f,
title = "MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction",
abstract = "Mutations in MYBPC3 gene, encoding cardiac myosin-binding protein C (cMyBP-C), frequently cause hypertrophic cardiomyopathy (HCM), which affects 0.2 % of the general population. This myocardial autosomal-dominant disorder is the leading cause of sudden cardiac death particularly in young athletes. The current pharmacological and surgical treatments of HCM focus on symptoms relief, but do not address the cause of the disease. With the development of novel strategies targeting the endogenous mutation, causal HCM therapy is now possible. This review will discuss the current knowledge on HCM from the identification of MYBPC3 gene mutations to potential RNA-based correction.",
author = "Verena Behrens-Gawlik and Giulia Mearini and Christina Gedicke-Hornung and Pascale Richard and Lucie Carrier",
year = "2014",
month = feb,
day = "1",
doi = "10.1007/s00424-013-1409-7",
language = "English",
volume = "466",
pages = "215--223",
journal = "PFLUG ARCH EUR J PHY",
issn = "0031-6768",
publisher = "Springer",
number = "2",

}

RIS

TY - JOUR

T1 - MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction

AU - Behrens-Gawlik, Verena

AU - Mearini, Giulia

AU - Gedicke-Hornung, Christina

AU - Richard, Pascale

AU - Carrier, Lucie

PY - 2014/2/1

Y1 - 2014/2/1

N2 - Mutations in MYBPC3 gene, encoding cardiac myosin-binding protein C (cMyBP-C), frequently cause hypertrophic cardiomyopathy (HCM), which affects 0.2 % of the general population. This myocardial autosomal-dominant disorder is the leading cause of sudden cardiac death particularly in young athletes. The current pharmacological and surgical treatments of HCM focus on symptoms relief, but do not address the cause of the disease. With the development of novel strategies targeting the endogenous mutation, causal HCM therapy is now possible. This review will discuss the current knowledge on HCM from the identification of MYBPC3 gene mutations to potential RNA-based correction.

AB - Mutations in MYBPC3 gene, encoding cardiac myosin-binding protein C (cMyBP-C), frequently cause hypertrophic cardiomyopathy (HCM), which affects 0.2 % of the general population. This myocardial autosomal-dominant disorder is the leading cause of sudden cardiac death particularly in young athletes. The current pharmacological and surgical treatments of HCM focus on symptoms relief, but do not address the cause of the disease. With the development of novel strategies targeting the endogenous mutation, causal HCM therapy is now possible. This review will discuss the current knowledge on HCM from the identification of MYBPC3 gene mutations to potential RNA-based correction.

U2 - 10.1007/s00424-013-1409-7

DO - 10.1007/s00424-013-1409-7

M3 - SCORING: Journal article

C2 - 24337823

VL - 466

SP - 215

EP - 223

JO - PFLUG ARCH EUR J PHY

JF - PFLUG ARCH EUR J PHY

SN - 0031-6768

IS - 2

ER -