[HTML][HTML] Reversible cardiac disease features in an inducible CUG repeat RNA–expressing mouse model of myotonic dystrophy

AN Rao, HM Campbell, X Guan, TA Word… - JCI insight, 2021 - ncbi.nlm.nih.gov
Abstract Myotonic dystrophy type 1 (DM1) is caused by a CTG repeat expansion in the
DMPK gene. Expression of pathogenic expanded CUG repeat (CUGexp) RNA causes …

Progressive skeletal muscle weakness in transgenic mice expressing CTG expansions is associated with the activation of the ubiquitin–proteasome pathway

A Vignaud, A Ferry, A Huguet, M Baraibar… - Neuromuscular …, 2010 - Elsevier
Myotonic dystrophy type 1 (DM1) is a neuromuscular disease caused by the expansion of a
CTG repeat in the DMPK gene and characterised by progressive skeletal muscle weakness …

Alternative splicing of transcription factors genes in muscle physiology and pathology

C Imbriano, S Molinari - Genes, 2018 - mdpi.com
Skeletal muscle formation is a multi-step process that is governed by complex networks of
transcription factors. The regulation of their functions is in turn multifaceted, including several …

Understanding cardiovascular disease: a journey through the genome (and what we found there)

E Lara-Pezzi, A Dopazo… - Disease models & …, 2012 - journals.biologists.com
Cardiovascular disease (CVD) is a major cause of mortality and hospitalization worldwide.
Several risk factors have been identified that are strongly associated with the development …

Integrative cell type-specific multi-omics approaches reveal impaired programs of glial cell differentiation in mouse culture models of DM1

A González-Barriga, L Lallemant, DM Dincã… - Frontiers in Cellular …, 2021 - frontiersin.org
Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by a non-coding CTG
repeat expansion in the DMPK gene. This mutation generates a toxic CUG RNA that …

Muscle-specific mis-splicing and heart disease exemplified by RBM20

M Rexiati, M Sun, W Guo - Genes, 2018 - mdpi.com
Alternative splicing is an essential post-transcriptional process to generate multiple
functional RNAs or proteins from a single transcript. Progress in RNA biology has led to a …

Bioinformatic screening for key mi RNA s and genes associated with myocardial infarction

K Wu, Q Zhao, Z Li, N Li, Q Xiao, X Li, Q Zhao - FEBS open bio, 2018 - Wiley Online Library
Despite significant advances in understanding of the causes of and treatment of myocardial
infarction (MI) in recent years, morbidity and mortality is still high. The aim of this study was …

Therapeutic approaches for dominant muscle diseases: highlight on myotonic dystrophy

AF Klein, S Dastidar, D Furling… - Current gene …, 2015 - ingentaconnect.com
Myotonic Dystrophy (DM), one of the most common neuromuscular disorders in adults,
comprises two genetically distinct forms triggered by unstable expanded repeats in non …

Misregulation of calcium-handling proteins promotes hyperactivation of calcineurin–NFAT signaling in skeletal muscle of DM1 mice

A Ravel-Chapuis, G Bélanger, J Côté… - Human Molecular …, 2017 - academic.oup.com
Abstract Myotonic Dystrophy type 1 (DM1) is caused by an expansion of CUG repeats in
DMPK mRNAs. This mutation affects alternative splicing through misregulation of RNA …

Global increase in circular RNA levels in myotonic dystrophy

K Czubak, K Taylor, A Piasecka, K Sobczak… - Frontiers in …, 2019 - frontiersin.org
Splicing aberrations induced as a consequence of the sequestration of muscleblind-like
splicing factors on the dystrophia myotonica protein kinase transcript, which contains …