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Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology

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Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology. / Carrier, Lucie; Mearini, Giulia; Stathopoulou, Konstantina; Cuello, Friederike.

In: GENE, Vol. 573, No. 2, 2015, p. 188-197.

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

Harvard

Carrier, L, Mearini, G, Stathopoulou, K & Cuello, F 2015, 'Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology', GENE, vol. 573, no. 2, pp. 188-197. https://doi.org/10.1016/j.gene.2015.09.008

APA

Carrier, L., Mearini, G., Stathopoulou, K., & Cuello, F. (2015). Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology. GENE, 573(2), 188-197. https://doi.org/10.1016/j.gene.2015.09.008

Vancouver

Carrier L, Mearini G, Stathopoulou K, Cuello F. Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology. GENE. 2015;573(2):188-197. https://doi.org/10.1016/j.gene.2015.09.008

Bibtex

@article{95fb54d29bf548f798f8fa1165d9db52,
title = "Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology",
abstract = "More than 350 individual MYPBC3mutations have been identified in patients with inherited hypertrophic cardiomyopathy (HCM), thus representing 40–50% of all HCMmutations, 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 howmutations in MYBPC3 are considered to affect the physiological function of cMyBP-C, thus causing the deleterious consequences observed inHCMpatients. 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 formof neonatal cardiomyopathydue to bi-allelic truncating MYBPC3 mutations.",
author = "Lucie Carrier and Giulia Mearini and Konstantina Stathopoulou and Friederike Cuello",
year = "2015",
doi = "10.1016/j.gene.2015.09.008",
language = "English",
volume = "573",
pages = "188--197",
journal = "GENE",
issn = "0378-1119",
publisher = "Elsevier",
number = "2",

}

RIS

TY - JOUR

T1 - Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology

AU - Carrier, Lucie

AU - Mearini, Giulia

AU - Stathopoulou, Konstantina

AU - Cuello, Friederike

PY - 2015

Y1 - 2015

N2 - More than 350 individual MYPBC3mutations have been identified in patients with inherited hypertrophic cardiomyopathy (HCM), thus representing 40–50% of all HCMmutations, 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 howmutations in MYBPC3 are considered to affect the physiological function of cMyBP-C, thus causing the deleterious consequences observed inHCMpatients. 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 formof neonatal cardiomyopathydue to bi-allelic truncating MYBPC3 mutations.

AB - More than 350 individual MYPBC3mutations have been identified in patients with inherited hypertrophic cardiomyopathy (HCM), thus representing 40–50% of all HCMmutations, 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 howmutations in MYBPC3 are considered to affect the physiological function of cMyBP-C, thus causing the deleterious consequences observed inHCMpatients. 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 formof neonatal cardiomyopathydue to bi-allelic truncating MYBPC3 mutations.

U2 - 10.1016/j.gene.2015.09.008

DO - 10.1016/j.gene.2015.09.008

M3 - SCORING: Journal article

VL - 573

SP - 188

EP - 197

JO - GENE

JF - GENE

SN - 0378-1119

IS - 2

ER -