Literature DB >> 25125180

Structural implications of β-cardiac myosin heavy chain mutations in human disease.

Melanie Colegrave1, Michelle Peckham.   

Abstract

Over 500 disease-causing point mutations have been found in the human β-cardiac myosin heavy chain, many quite recently with modern sequencing techniques. This review shows that clusters of these mutations occur at critical points in the sequence and investigates whether the many studies on these mutants reveal information about the function of this protein.
© 2014 Wiley Periodicals, Inc.

Entities:  

Keywords:  cardiac disease; point mutation; skeletal muscle disease; β-cardiac myosin

Mesh：

Substances：

Year:  2014        PMID： 25125180     DOI： 10.1002/ar.22973

Source DB:  PubMed          Journal:  Anat Rec (Hoboken)        ISSN： 1932-8486            Impact factor:   2.064


  45 in total

1.  A Failure to Communicate: MYOSIN RESIDUES INVOLVED IN HYPERTROPHIC CARDIOMYOPATHY AFFECT INTER-DOMAIN INTERACTION.

Authors:  William A Kronert; Girish C Melkani; Anju Melkani; Sanford I Bernstein
Journal:  J Biol Chem       Date:  2015-10-07       Impact factor: 5.157

2.  Recent advances in muscle research.

Authors:  Jean M Sanger; Joseph W Sanger
Journal:  Anat Rec (Hoboken)       Date:  2014-09       Impact factor: 2.064

Review 3.  Lessons from a tarantula: new insights into myosin interacting-heads motif evolution and its implications on disease.

Authors:  Lorenzo Alamo; Antonio Pinto; Guidenn Sulbarán; Jesús Mavárez; Raúl Padrón
Journal:  Biophys Rev       Date:  2017-09-04

4.  The myosin mesa and the basis of hypercontractility caused by hypertrophic cardiomyopathy mutations.

Authors:  Suman Nag; Darshan V Trivedi; Saswata S Sarkar; Arjun S Adhikari; Margaret S Sunitha; Shirley Sutton; Kathleen M Ruppel; James A Spudich
Journal:  Nat Struct Mol Biol       Date:  2017-05-08       Impact factor: 15.369

5.  Myosin motor domains carrying mutations implicated in early or late onset hypertrophic cardiomyopathy have similar properties.

Authors:  Carlos D Vera; Chloe A Johnson; Jonathan Walklate; Arjun Adhikari; Marina Svicevic; Srboljub M Mijailovich; Ariana C Combs; Stephen J Langer; Kathleen M Ruppel; James A Spudich; Michael A Geeves; Leslie A Leinwand
Journal:  J Biol Chem       Date:  2019-10-03       Impact factor: 5.157

6.  Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo.

Authors:  Meera C Viswanathan; Rick C Tham; William A Kronert; Floyd Sarsoza; Adriana S Trujillo; Anthony Cammarato; Sanford I Bernstein
Journal:  Hum Mol Genet       Date:  2017-12-15       Impact factor: 6.150

7.  Alternative N-terminal regions of Drosophila myosin heavy chain II regulate communication of the purine binding loop with the essential light chain.

Authors:  Marieke J Bloemink; Karen H Hsu; Michael A Geeves; Sanford I Bernstein
Journal:  J Biol Chem       Date:  2020-08-19       Impact factor: 5.157

8.  YTHDF2 alleviates cardiac hypertrophy via regulating Myh7 mRNA decoy.

Authors:  Hongfei Xu; Zhen Wang; Miao Chen; Wenting Zhao; Tingting Tao; Liang Ma; Yiming Ni; Weidong Li
Journal:  Cell Biosci       Date:  2021-07-15       Impact factor: 7.133

9.  Variants in MHY7 Gene Cause Arrhythmogenic Cardiomyopathy.

Authors:  Valentina Ferradini; Luca Parca; Annamaria Martino; Chiara Lanzillo; Elisa Silvetti; Leonardo Calò; Stefano Caselli; Giuseppe Novelli; Manuela Helmer-Citterich; Federica Carla Sangiuolo; Ruggiero Mango
Journal:  Genes (Basel)       Date:  2021-05-22       Impact factor: 4.096

Review 10.  Myosin isoforms and the mechanochemical cross-bridge cycle.

Authors:  Jonathan Walklate; Zoltan Ujfalusi; Michael A Geeves
Journal:  J Exp Biol       Date:  2016-01       Impact factor: 3.312
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