Precise genomic editing of pathogenic mutations in RBM20 rescues dilated cardiomyopathy
Mutations in RNA binding motif protein 20 (RBM20) are a common cause of familial dilated
cardiomyopathy (DCM). Many RBM20 mutations cluster within an arginine/serine-rich (RS …
cardiomyopathy (DCM). Many RBM20 mutations cluster within an arginine/serine-rich (RS …
Mislocalization of pathogenic RBM20 variants in dilated cardiomyopathy is caused by loss-of-interaction with Transportin-3
Severe forms of dilated cardiomyopathy (DCM) are associated with point mutations in the
alternative splicing regulator RBM20 that are frequently located in the arginine/serine-rich …
alternative splicing regulator RBM20 that are frequently located in the arginine/serine-rich …
RNA-binding proteins in cardiovascular biology and disease: The beat goes on
Cardiac development and function are becoming increasingly well understood from different
angles, including signalling, transcriptional and epigenetic mechanisms. By contrast, the …
angles, including signalling, transcriptional and epigenetic mechanisms. By contrast, the …
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 …
protein that belongs to the serine-arginine-rich family of splicing factors. The RBM20 gene …
Striated muscle-specific base editing enables correction of mutations causing dilated cardiomyopathy
M Grosch, L Schraft, A Chan, L Küchenhoff… - Nature …, 2023 - nature.com
Dilated cardiomyopathy is the second most common cause for heart failure with no cure
except a high-risk heart transplantation. Approximately 30% of patients harbor heritable …
except a high-risk heart transplantation. Approximately 30% of patients harbor heritable …
[HTML][HTML] Sorafenib induces cardiotoxicity through RBM20-mediated alternative splicing of sarcomeric and mitochondrial genes
S Liu, S Yue, Y Guo, J Han, H Wang - Pharmacological Research, 2023 - Elsevier
Sorafenib, a multi-targeted tyrosine kinase inhibitor, is a first-line treatment for advanced
solid tumors, but it induces many adverse cardiovascular events, including myocardial …
solid tumors, but it induces many adverse cardiovascular events, including myocardial …
[HTML][HTML] Risk Assessment and Personalized Treatment Options in Inherited Dilated Cardiomyopathies: A Narrative Review
DA Arnautu, D Cozma, IR Lala, SF Arnautu… - Biomedicines, 2024 - mdpi.com
Considering the worldwide impact of heart failure, it is crucial to develop approaches that
can help us comprehend its root cause and make accurate predictions about its outcome …
can help us comprehend its root cause and make accurate predictions about its outcome …
[HTML][HTML] Disruption of the nuclear localization signal in RBM20 is causative in dilated cardiomyopathy
Human patients carrying genetic mutations in RNA binding motif 20 (RBM20) develop a
clinically aggressive dilated cardiomyopathy (DCM). Genetic mutation knockin (KI) animal …
clinically aggressive dilated cardiomyopathy (DCM). Genetic mutation knockin (KI) animal …
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 …
mutations in the splicing factor RBM20. A recent study found a more severe phenotype in …
Regulation of plant resistance to salt stress by the SnRK1‐dependent splicing factor SRRM1L
Q Sun, Y Sun, X Liu, M Li, Q Li, J Xiao, P Xu… - New …, 2024 - Wiley Online Library
Most splicing factors are extensively phosphorylated but their physiological functions in plant
salt resistance are still elusive. We found that phosphorylation by SnRK1 kinase is essential …
salt resistance are still elusive. We found that phosphorylation by SnRK1 kinase is essential …