Literature DB >> 26345447

New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.

Montse Olivé, Saba Abdul-Hussein, Anders Oldfors, José González-Costello, Peter F M van der Ven, Dieter O Fürst, Laura González, Dolores Moreno, Benjamín Torrejón-Escribano, Josefina Alió, Adolf Pou, Isidro Ferrer, Homa Tajsharghi.   

Abstract

Entities:  

Year:  2015        PMID： 26345447     DOI： 10.1093/hmg/ddv311

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  4 in total

1.  KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination.

Authors:  Andres Ramirez-Martinez; Bercin Kutluk Cenik; Svetlana Bezprozvannaya; Beibei Chen; Rhonda Bassel-Duby; Ning Liu; Eric N Olson
Journal:  Elife       Date:  2017-08-09       Impact factor: 8.140

2.  Preoperative myocardial expression of E3 ubiquitin ligases in aortic stenosis patients undergoing valve replacement and their association to postoperative hypertrophy.

Authors:  Fábio Trindade; Francisca Saraiva; Simon Keane; Adelino Leite-Moreira; Rui Vitorino; Homa Tajsharghi; Inês Falcão-Pires
Journal:  PLoS One       Date:  2020-09-18       Impact factor: 3.240

Review 3.  Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.

Authors:  Heinz Jungbluth; Susan Treves; Francesco Zorzato; Anna Sarkozy; Julien Ochala; Caroline Sewry; Rahul Phadke; Mathias Gautel; Francesco Muntoni
Journal:  Nat Rev Neurol       Date:  2018-02-02       Impact factor: 42.937

4.  Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant.

Authors:  Sofiya Andreeva; Olga Chumakova; Elena Karelkina; Viktoriya Lebedeva; Tamara Lubimtseva; Andrey Semenov; Alexey Nikitin; Gleb Speshilov; Alexandra Kozyreva; Polina Sokolnikova; Sergey Zhuk; Yuliya Fomicheva; Olga Moiseeva; Anna Kostareva
Journal:  Front Genet       Date:  2022-02-22       Impact factor: 4.599
  4 in total

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