The A31P missense mutation in cardiac myosin binding protein C alters protein structure but does not cause haploinsufficiency-Reference-Cited by-同舟云学术

The A31P missense mutation in cardiac myosin binding protein C alters protein structure but does not cause haploinsufficiency

Published:2016-07 Issue: Volume:601 Page:133-140
ISSN:0003-9861
Container-title:Archives of Biochemistry and Biophysics
language:en
Short-container-title:Archives of Biochemistry and Biophysics

Author:

van Dijk Sabine J.^ORCID,Bezold Kooiker Kristina,Mazzalupo Stacy,Yang Yuanzhang,Kostyukova Alla S.,Mustacich Debbie J.,Hoye Elaine R.,Stern Joshua A.,Kittleson Mark D.,Harris Samantha P.

Funder

NIH

Publisher

Elsevier BV

Subject

Molecular Biology,Biochemistry,Biophysics

Reference39 articles.

1. Prevalence of Hypertrophic Cardiomyopathy in a General Population of Young Adults

2. Hypertrophic cardiomyopathy

3. Hypertrophic cardiomyopathy

4. Cardiac Myosin-Binding Protein C Mutations and Hypertrophic Cardiomyopathy

5. Evidence From Human Myectomy Samples That MYBPC3 Mutations Cause Hypertrophic Cardiomyopathy Through Haploinsufficiency

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1. Hypertrophic cardiomyopathy in purpose-bred cats with the A31P mutation in cardiac myosin binding protein-C;Scientific Reports;2023-06-26

2. Cryo-electron tomography of intact cardiac muscle reveals myosin binding protein-C linking myosin and actin filaments;Journal of Muscle Research and Cell Motility;2023-04-28

3. In situ FRET-based localization of the N terminus of myosin binding protein-C in heart muscle cells;Proceedings of the National Academy of Sciences;2023-03-13

4. The mechanics of the heart: zooming in on hypertrophic cardiomyopathy and cMyBP‐C;FEBS Letters;2022-02-28

5. Assessment of the Contribution of a Thermodynamic and Mechanical Destabilization of Myosin-Binding Protein C Domain C2 to the Pathomechanism of Hypertrophic Cardiomyopathy-Causing Double Mutation MYBPC3Δ25bp/D389V;International Journal of Molecular Sciences;2021-11-04