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Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin

Abstract:

The mechanisms by which truncating mutations in MYBPC3 (encoding cardiac myosin-binding protein C; cMyBPC) or myosin missense mutations cause hypercontractility and poor relaxation in hypertrophic cardiomyopathy (HCM) are incompletely understood. Using genetic and biochemical approaches, we explored how depletion of cMyBPC altered sarcomere function. We demonstrated that stepwise loss of cMyBPC resulted in reciprocal augmentation of myosin contractility. Direct attenuation of myosin function,...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted Manuscript

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Publisher copy:
10.1126/scitranslmed.aat1199

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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM
Subgroup:
RDM Cardiovascular Medicine
Role:
Author
ORCID:
0000-0003-4671-2030
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Role:
Author
ORCID:
0000-0003-0225-6424
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Role:
Author
ORCID:
0000-0002-3287-7849
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Role:
Author
ORCID:
0000-0002-4257-8623
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Publisher:
American Association for the Advancement of Science Publisher's website
Journal:
Science Translational Nedicine Journal website
Volume:
11
Issue:
476
Pages:
Article: eaat1199
Publication date:
2019-01-23
Acceptance date:
2018-11-30
DOI:
EISSN:
1946-6242
ISSN:
1946-6234
Pubs id:
pubs:966074
URN:
uri:5e4660ee-b115-4c4c-a408-0056176b3a4a
UUID:
uuid:5e4660ee-b115-4c4c-a408-0056176b3a4a
Local pid:
pubs:966074
Language:
English

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