Literature DB >> 26807690

Desmin, desminopathy and the complexity of genetics.

Valerio Azzimato1, Nina Gennebäck1, Ali M Tabish1, Byambajav Buyandelger1, Ralph Knöll2.   

Abstract

Entities:  

Keywords:  Cardiomyopathy; Desmin; Desminopathy; Intermediate filaments; Mutations

Mesh：

Substances：

Year:  2016        PMID： 26807690     DOI： 10.1016/j.yjmcc.2016.01.017

Source DB:  PubMed          Journal:  J Mol Cell Cardiol        ISSN： 0022-2828            Impact factor:   5.000


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  6 in total

Review 1.  Intermediate filaments in cardiomyopathy.

Authors:  Mary Tsikitis; Zoi Galata; Manolis Mavroidis; Stelios Psarras; Yassemi Capetanaki
Journal:  Biophys Rev       Date:  2018-07-19

Review 2.  Overview of the Muscle Cytoskeleton.

Authors:  Christine A Henderson; Christopher G Gomez; Stefanie M Novak; Lei Mi-Mi; Carol C Gregorio
Journal:  Compr Physiol       Date:  2017-06-18       Impact factor: 9.090

3.  A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy.

Authors:  Ilona Schirmer; Mareike Dieding; Bärbel Klauke; Andreas Brodehl; Anna Gaertner-Rommel; Volker Walhorn; Jan Gummert; Uwe Schulz; Lech Paluszkiewicz; Dario Anselmetti; Hendrik Milting
Journal:  Mol Genet Genomic Med       Date:  2017-12-23       Impact factor: 2.183

4.  Aberrant Mitochondrial Fission Is Maladaptive in Desmin Mutation-Induced Cardiac Proteotoxicity.

Authors:  Shafiul Alam; Chowdhury S Abdullah; Richa Aishwarya; Sumitra Miriyala; Manikandan Panchatcharam; Jonette M Peretik; A Wayne Orr; Jeanne James; Jeffrey Robbins; Md Shenuarin Bhuiyan
Journal:  J Am Heart Assoc       Date:  2018-07-09       Impact factor: 5.501

5.  Transiently structured head domains control intermediate filament assembly.

Authors:  Xiaoming Zhou; Yi Lin; Masato Kato; Eiichiro Mori; Glen Liszczak; Lillian Sutherland; Vasiliy O Sysoev; Dylan T Murray; Robert Tycko; Steven L McKnight
Journal:  Proc Natl Acad Sci U S A       Date:  2021-02-23       Impact factor: 11.205

6.  Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect.

Authors:  Andreas Brodehl; Seyed Ahmad Pour Hakimi; Caroline Stanasiuk; Sandra Ratnavadivel; Doris Hendig; Anna Gaertner; Brenda Gerull; Jan Gummert; Lech Paluszkiewicz; Hendrik Milting
Journal:  Genes (Basel)       Date:  2019-11-11       Impact factor: 4.096
  6 in total

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