Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy

Abnormal sodium current properties contribute to cardiac electrical and contractile dysfunction in a mouse model of myotonic dystrophy type 1

(2015) Vincent Algalarrondo et al.   NEUROMUSCULAR DISORDERS

Abnormal splicing switch of DMD’s penultimate exon compromises muscle fibre maintenance in myotonic dystrophy

(2015) Frédérique Rau et al.   Nature Communications

Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms

(2015) Donald M. Dixon et al.   Scientific Reports

MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy Brain

(2015) Marianne Goodwin et al.   Cell Reports

Myotonic dystrophy type 1 mimics and exacerbates Brugada phenotype induced by Nav1.5 sodium channel loss-of-function mutation

(2014) Thomas Pambrun et al.   HEART RHYTHM

The Mef2 Transcription Network Is Disrupted in Myotonic Dystrophy Heart Tissue, Dramatically Altering miRNA and mRNA Expression

(2014) Auinash Kalsotra et al.   Cell Reports

Splicing biomarkers of disease severity in myotonic dystrophy

(2013) Masayuki Nakamori et al.   ANNALS OF NEUROLOGY

Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1

(2013) Karim Wahbi et al.   Archives of Cardiovascular Diseases

Compound loss of muscleblind-like function in myotonic dystrophy

(2013) Kuang-Yung Lee et al.   EMBO Molecular Medicine

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

(2013) Daehwan Kim et al.   GENOME BIOLOGY

Transcriptome-wide Regulation of Pre-mRNA Splicing and mRNA Localization by Muscleblind Proteins

(2012) Eric T. Wang et al.   CELL

Detecting differential usage of exons from RNA-seq data

(2012) S. Anders et al.   GENOME RESEARCH

Targeting nuclear RNA for in vivo correction of myotonic dystrophy

(2012) Thurman M. Wheeler et al.   NATURE

Identification and functional characterization of KCNQ1 mutations around the exon 7–intron 7 junction affecting the splicing process

(2011) Keiko Tsuji–Wakisaka et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia

(2011) Lisa L. Murphy et al.   HEART RHYTHM

Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of CaV1.1 calcium channel

(2011) Zhen Zhi Tang et al.   HUMAN MOLECULAR GENETICS

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy

(2011) Charlotte Fugier et al.   NATURE MEDICINE

Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy

(2011) Frédérique Rau et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Alternative Splicing of the Cardiac Sodium Channel Creates Multiple Variants of Mutant T1620K Channels

(2011) Stefan Walzik et al.   PLoS One

Brugada-like cardiac disease in myotonic dystrophy type 2: report of two unrelated patients

(2010) S. Rudnik-Schöneborn et al.   EUROPEAN JOURNAL OF NEUROLOGY

Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1

(2010) Misha Koshelev et al.   HUMAN MOLECULAR GENETICS

Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

(2010) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

Analysis and design of RNA sequencing experiments for identifying isoform regulation

(2010) Yarden Katz et al.   NATURE METHODS

MBNL1 binds GC motifs embedded in pyrimidines to regulate alternative splicing

(2010) Emily S. Goers et al.   NUCLEIC ACIDS RESEARCH

Variable Nav1.5 Protein Expression from the Wild-Type Allele Correlates with the Penetrance of Cardiac Conduction Disease in the Scn5a+/− Mouse Model

(2010) Anne-Laure Leoni et al.   PLoS One

Structural Insights into RNA Recognition by the Alternate-Splicing Regulator CUG-Binding Protein 1

(2010) Marianna Teplova et al.   STRUCTURE

One-Dimensional Mathematical Model of the Atrioventricular Node Including Atrio-Nodal, Nodal, and Nodal-His Cells

(2009) S. Inada et al.   BIOPHYSICAL JOURNAL

Arrhythmia exacerbation after sodium channel blockade in myotonic dystrophy type 1

(2009) Richard F. Otten et al.   MUSCLE & NERVE

Alternative splicing of Nav1.5: An electrophysiological comparison of ‘neonatal’ and ‘adult’ isoforms and critical involvement of a lysine residue

(2008) Rustem Onkal et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Structural insights into RNA recognition by the alternative-splicing regulator muscleblind-like MBNL1

(2008) Marianna Teplova et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Aberrantly spliced  -dystrobrevin alters  -syntrophin binding in myotonic dystrophy type 1

(2008) M. Nakamori et al.   NEUROLOGY

Electrocardiographic Abnormalities and Sudden Death in Myotonic Dystrophy Type 1

(2008) William J. Groh et al.   NEW ENGLAND JOURNAL OF MEDICINE

A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart

(2008) A. Kalsotra et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA