The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy"-Reference-Cited by-同舟云学术

The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy"

Published:2021-03-12 Issue:2 Volume:42 Page:381-397
ISSN:0142-4319
Container-title:Journal of Muscle Research and Cell Motility
language:en
Short-container-title:J Muscle Res Cell Motil

Author:

Schänzer Anne^ORCID,Schumann Elisabeth,Zengeler Diana,Gulatz Lisann,Maroli Giovanni,Ahting Uwe,Sprengel Anke,Gräf Sabine,Hahn Andreas,Jux Christian,Acker Till,Fürst Dieter O.,Rupp Stefan,Schuld Julia,van der Ven Peter F. M.

Funder

Deutsche Gesellschaft für Muskelkranke

Deutsche Forschungsgemeinschaft

Publisher

Springer Science and Business Media LLC

Subject

Cell Biology,Biochemistry,Physiology

Link

https://link.springer.com/content/pdf/10.1007/s10974-021-09601-1.pdf

Reference84 articles.

1. Ader F et al (2019) FLNC pathogenic variants in patients with cardiomyopathies: prevalence and genotype-phenotype correlations. Clin Genet 96:317–329. https://doi.org/10.1111/cge.13594

2. Arndt V et al (2010) Chaperone-assisted selective autophagy is essential for muscle maintenance. Curr Biol 20:143–148. https://doi.org/10.1016/j.cub.2009.11.022

3. Baker J et al (2010) Identification of a Z-band associated protein complex involving KY, FLNC and IGFN1. Exp Cell Res 316:1856–1870. https://doi.org/10.1016/j.yexcr.2010.02.027

4. Beatham J, Romero R, Townsend SK, Hacker T, van der Ven PF, Blanco G (2004) Filamin C interacts with the muscular dystrophy KY protein and is abnormally distributed in mouse KY deficient muscle fibres. Hum Mol Genet 13:2863–2874. https://doi.org/10.1093/hmg/ddh308

5. Begay RL et al (2016) FLNC gene splice mutations cause dilated cardiomyopathy. JACC Basic Transl Sci 1:344–359. https://doi.org/10.1016/j.jacbts.2016.05.004

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