Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin

Author:

Toepfer Christopher N.123ORCID,Wakimoto Hiroko14ORCID,Garfinkel Amanda C.1ORCID,McDonough Barbara5ORCID,Liao Dan6,Jiang Jianming6ORCID,Tai Angela C.1,Gorham Joshua M.1ORCID,Lunde Ida G.17ORCID,Lun Mingyue8,Lynch Thomas L.9ORCID,McNamara James W.10ORCID,Sadayappan Sakthivel10,Redwood Charles S.2ORCID,Watkins Hugh C.23ORCID,Seidman Jonathan G.1ORCID,Seidman Christine E.1511ORCID

Affiliation:

1. Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.

2. Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, OX3 9DU, UK.

3. Wellcome Centre for Human Genetics, University of Oxford, OX3 7BN, UK.

4. Department of Cardiology, Children’s Hospital Boston, Boston, MA 02115, USA.

5. Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.

6. Department of Biochemistry and Cardiovascular Research Institute (CVRI), Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore.

7. Institute for Experimental Medical Research, Oslo University Hospital and University of Oslo, 0318 Oslo, Norway.

8. Division of Genetics, Department of Medicine, Brigham and Women’s Hospital, Boston, MA 02115, USA.

9. Department of Molecular Pharmacology and Therapeutics, Health Sciences Division, Loyola University Chicago, Maywood, IL 60153, USA.

10. Heart, Lung and Vascular Institute, University of Cincinnati, Cincinnati, OH 45219, USA.

11. Division of Cardiovascular Medicine, Brigham and Women’s Hospital, Boston, MA 02115, USA.

Abstract

Mutations in MYBPC3 disrupt myosin states of relaxation, and manipulating myosin therapeutically abates the effects of MYBPC3 mutations.

Funder

National Institutes of Health

National Heart, Lung, and Blood Institute

American Heart Association

British Heart Foundation

Wellcome Trust

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

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