Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients with MYBPC3 mutations

S.J. van Dijk; N.M. Boontje; M.W. Heymans; F.J. ten Cate; M. Michels; C. dos Remedios; D. Dooijes; M.A. van Slegtenhorst; J. van der Velden; G.J.M. Stienen

doi:10.1007/s00424-013-1391-0

Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients with MYBPC3 mutations

S.J. van Dijk
, N.M. Boontje
, M.W. Heymans
, F.J. ten Cate
, M. Michels
, C. dos Remedios
, D. Dooijes
, M.A. van Slegtenhorst
, J. van der Velden
, G.J.M. Stienen

Research output: Contribution to Journal › Article › Academic › peer-review

Abstract

Mutations in the MYBPC3 gene, encoding cardiac myosin binding protein C (cMyBP-C) are frequent causes of hypertrophic cardiomyopathy (HCM). Previously, we have presented evidence for reduced cMyBP-C expression (haploinsufficiency), in patients with a truncation mutation in MYBPC3. In mice, lacking cMyBP-C cross-bridge kinetics was accelerated. In this study, we investigated whether cross-bridge kinetics was altered in myectomy samples from HCM patients harboring heterozygous MYBPC3 mutations (MYBPC3

Original language	English
Pages (from-to)	1619-1633
Journal	Pflügers Archiv European Journal of Physiology
Volume	466
Issue number	8
DOIs	https://doi.org/10.1007/s00424-013-1391-0
Publication status	Published - 2014

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SDG 3 Good Health and Well-being

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10.1007/s00424-013-1391-0

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van Dijk, S. J., Boontje, N. M., Heymans, M. W., ten Cate, F. J., Michels, M., dos Remedios, C., Dooijes, D., van Slegtenhorst, M. A., van der Velden, J., & Stienen, G. J. M. (2014). Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients with MYBPC3 mutations. Pflügers Archiv European Journal of Physiology, 466(8), 1619-1633. https://doi.org/10.1007/s00424-013-1391-0

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title = "Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients with MYBPC3 mutations",

abstract = "Mutations in the MYBPC3 gene, encoding cardiac myosin binding protein C (cMyBP-C) are frequent causes of hypertrophic cardiomyopathy (HCM). Previously, we have presented evidence for reduced cMyBP-C expression (haploinsufficiency), in patients with a truncation mutation in MYBPC3. In mice, lacking cMyBP-C cross-bridge kinetics was accelerated. In this study, we investigated whether cross-bridge kinetics was altered in myectomy samples from HCM patients harboring heterozygous MYBPC3 mutations (MYBPC3",

author = "\{van Dijk\}, S.J. and N.M. Boontje and M.W. Heymans and \{ten Cate\}, F.J. and M. Michels and \{dos Remedios\}, C. and D. Dooijes and \{van Slegtenhorst\}, M.A. and \{van der Velden\}, J. and G.J.M. Stienen",

year = "2014",

doi = "10.1007/s00424-013-1391-0",

language = "English",

volume = "466",

pages = "1619--1633",

journal = "Pfl{\"u}gers Archiv European Journal of Physiology",

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publisher = "Springer Science and Business Media Deutschland GmbH",

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}

van Dijk, SJ, Boontje, NM, Heymans, MW, ten Cate, FJ, Michels, M, dos Remedios, C, Dooijes, D, van Slegtenhorst, MA, van der Velden, J & Stienen, GJM 2014, 'Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients with MYBPC3 mutations', Pflügers Archiv European Journal of Physiology, vol. 466, no. 8, pp. 1619-1633. https://doi.org/10.1007/s00424-013-1391-0

TY - JOUR

T1 - Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients with MYBPC3 mutations

AU - van Dijk, S.J.

AU - Boontje, N.M.

AU - Heymans, M.W.

AU - ten Cate, F.J.

AU - Michels, M.

AU - dos Remedios, C.

AU - Dooijes, D.

AU - van Slegtenhorst, M.A.

AU - van der Velden, J.

AU - Stienen, G.J.M.

PY - 2014

Y1 - 2014

N2 - Mutations in the MYBPC3 gene, encoding cardiac myosin binding protein C (cMyBP-C) are frequent causes of hypertrophic cardiomyopathy (HCM). Previously, we have presented evidence for reduced cMyBP-C expression (haploinsufficiency), in patients with a truncation mutation in MYBPC3. In mice, lacking cMyBP-C cross-bridge kinetics was accelerated. In this study, we investigated whether cross-bridge kinetics was altered in myectomy samples from HCM patients harboring heterozygous MYBPC3 mutations (MYBPC3

AB - Mutations in the MYBPC3 gene, encoding cardiac myosin binding protein C (cMyBP-C) are frequent causes of hypertrophic cardiomyopathy (HCM). Previously, we have presented evidence for reduced cMyBP-C expression (haploinsufficiency), in patients with a truncation mutation in MYBPC3. In mice, lacking cMyBP-C cross-bridge kinetics was accelerated. In this study, we investigated whether cross-bridge kinetics was altered in myectomy samples from HCM patients harboring heterozygous MYBPC3 mutations (MYBPC3

U2 - 10.1007/s00424-013-1391-0

DO - 10.1007/s00424-013-1391-0

M3 - Article

SN - 0031-6768

VL - 466

SP - 1619

EP - 1633

JO - Pflügers Archiv European Journal of Physiology

JF - Pflügers Archiv European Journal of Physiology

IS - 8

ER -

Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients with MYBPC3 mutations

Abstract

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