Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems

ZR Gregorich, Y Zhang, TJ Kamp… - Circulation: Genomic …, 2024 - Am Heart Assoc
RBM20 (RNA-binding motif protein 20) is a vertebrate-and muscle-specific RNA-binding
protein that belongs to the serine-arginine-rich family of splicing factors. The RBM20 gene …

Cardiomyopathy‐associated mutations in the RS domain affect nuclear localization of RBM20

A Gaertner, B Klauke, E Felski, A Kassner… - Human …, 2020 - Wiley Online Library
Mutations in RBM20 encoding the RNA‐binding motif protein 20 (RBM20) are associated
with an early onset and clinically severe forms of cardiomyopathies. Transcriptome analyses …

Deep phenotyping of two preclinical mouse models and a cohort of RBM20 mutation carriers reveals no sex-dependent disease severity in RBM20 cardiomyopathy

DC Lennermann, ME Pepin, M Grosch… - American Journal …, 2022 - journals.physiology.org
RBM20 cardiomyopathy is an arrhythmogenic form of dilated cardiomyopathy caused by
mutations in the splicing factor RBM20. A recent study found a more severe phenotype in …

Screening for mutations in human cardiomyopathy- is RBM24 a new but rare disease gene?

A Gaertner, A Brodehl, H Milting - Protein & cell, 2019 - academic.oup.com
With great interest we have read the study of Liu et al.(2018) revealing the role of RNA
binding protein 24 (RBM24) on global alternative splicing and dilated cardiomyopathy …

RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing

H Maatz, M Jens, M Liss, S Schafer… - The Journal of …, 2014 - Am Soc Clin Investig
Mutations in the gene encoding the RNA-binding protein RBM20 have been implicated in
dilated cardiomyopathy (DCM), a major cause of chronic heart failure, presumably through …

RBM20-related cardiomyopathy: current understanding and future options

J Koelemen, M Gotthardt, LM Steinmetz… - Journal of Clinical …, 2021 - mdpi.com
Splice regulators play an essential role in the transcriptomic diversity of all eukaryotic cell
types and organ systems. Recent evidence suggests a contribution of splice-regulatory …

New insights in RBM20 cardiomyopathy

D Lennermann, J Backs… - Current heart failure …, 2020 - Springer
Abstract Purpose of Review This review aims to give an update on recent findings related to
the cardiac splicing factor RNA-binding motif protein 20 (RBM20) and RBM20 …

SR protein kinases regulate the splicing of cardiomyopathy-relevant genes via phosphorylation of the RSRSP stretch in RBM20

M Sun, Y Jin, Y Zhang, ZR Gregorich, J Ren, Y Ge… - Genes, 2022 - mdpi.com
(1) Background: RNA binding motif 20 (RBM20) regulates mRNA splicing specifically in
muscle tissues. Missense mutations in the arginine/serine (RS) domain of RBM20 lead to …

Alternative splicing regulator RBM20 and cardiomyopathy

T Watanabe, A Kimura, H Kuroyanagi - Frontiers in molecular …, 2018 - frontiersin.org
RBM20 is a vertebrate-specific RNA-binding protein with two zinc finger (ZnF) domains, one
RNA-recognition motif (RRM)-type RNA-binding domain and an arginine/serine (RS)-rich …

The RNA-binding protein Rbm38 is dispensable during pressure overload-induced cardiac remodeling in mice

MMG van den Hoogenhof, I van der Made, A Beqqali… - PLoS …, 2017 - journals.plos.org
The importance of tightly controlled alternative pre-mRNA splicing in the heart is emerging.
The RNA binding protein Rbm24 has recently been identified as a pivotal cardiac splice …