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:https://doi.org/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

11 Citations (Scopus)

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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https://doi.org/10.1007/s00424-013-1391-0

Cite this

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",

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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

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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

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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 - https://doi.org/10.1007/s00424-013-1391-0

DO - https://doi.org/10.1007/s00424-013-1391-0

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VL - 466

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JO - Pflügers Archiv European Journal of Physiology

JF - Pflügers Archiv European Journal of Physiology

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