Precise genomic editing of pathogenic mutations in RBM20 rescues dilated cardiomyopathy

T Nishiyama, Y Zhang, M Cui, H Li… - Science translational …, 2022 - science.org
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 …

Splicing regulation through biomolecular condensates and membraneless organelles

J Giudice, H Jiang - Nature Reviews Molecular Cell Biology, 2024 - nature.com
Biomolecular condensates, sometimes also known as membraneless organelles (MLOs),
can form through weak multivalent intermolecular interactions of proteins and nucleic acids …

Mislocalization of pathogenic RBM20 variants in dilated cardiomyopathy is caused by loss-of-interaction with Transportin-3

J Kornienko, M Rodríguez-Martínez, K Fenzl… - Nature …, 2023 - nature.com
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 …

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 …

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 …

[HTML][HTML] RBM20 phosphorylation and its role in nucleocytoplasmic transport and cardiac pathogenesis

Y Zhang, C Wang, M Sun, Y Jin, CU Braz… - The FASEB …, 2022 - ncbi.nlm.nih.gov
Abstract Arginine–serine (RS) domain (s) in splicing factors are critical for protein–protein
interaction in pre‐mRNA splicing. Phosphorylation of RS domain is important for splicing …

I536T variant of RBM20 affects splicing of cardiac structural proteins that are causative for developing dilated cardiomyopathy

T Yamamoto, R Sano, A Miura, M Imasaka… - Journal of Molecular …, 2022 - Springer
RBM20 is one of the genes predisposing to dilated cardiomyopathy (DCM). Variants in the
RS domain have been reported in many DCM patients, but the pathogenicity of variants …

Fluid–structure interaction methods for the progressive anatomical and artificial aortic valve stenosis

M Nowak, E Divo, WP Adamczyk - International Journal of Mechanical …, 2022 - Elsevier
Cardiovascular system diseases, as aortic valve stenosis, are the main cause of mortality
and morbidity among patients. There is still a room for enhancement of the diagnostic and …

[HTML][HTML] Disruption of the nuclear localization signal in RBM20 is causative in dilated cardiomyopathy

Y Zhang, ZR Gregorich, Y Wang, CU Braz, J Zhang… - JCI insight, 2023 - ncbi.nlm.nih.gov
Human patients carrying genetic mutations in RNA binding motif 20 (RBM20) develop a
clinically aggressive dilated cardiomyopathy (DCM). Genetic mutation knockin (KI) animal …

Multiscale model for blood flow after a bileaflet artificial aortic valve implantation

M Nowak, E Divo, WP Adamczyk - Computers in Biology and Medicine, 2023 - Elsevier
Cardiovascular diseases are the leading cause of mortality in the world, mainly due to
atherosclerosis and its consequences. The article presents the numerical model of the blood …