RBM24 promotes U1 snRNP recognition of the mutated 5′ splice site in the IKBKAP gene of familial dysautonomia

Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia

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The pathogenicity of splicing defects: mechanistic insights into pre-mRNA processing inform novel therapeutic approaches

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Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia

(2015) Mayumi Yoshida et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

RBM24 Is a Major Regulator of Muscle-Specific Alternative Splicing

(2014) Jiwen Yang et al.   DEVELOPMENTAL CELL

RBFOX and SUP-12 sandwich a G base to cooperatively regulate tissue-specific splicing

(2014) Kanako Kuwasako et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Dynamic Integration of Splicing within Gene Regulatory Pathways

(2013) Ulrich Braunschweig et al.   CELL

Cardiac glycosides correct aberrant splicing ofIKBKAP-encoded mRNA in familial dysautonomia derived cells by suppressing expression of SRSF3

(2013) Bo Liu et al.   FEBS Journal

Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model

(2013) Ron Bochner et al.   HUMAN MOLECULAR GENETICS

Heart Structure-Specific Transcriptomic Atlas Reveals Conserved microRNA-mRNA Interactions

(2013) Caterina Vacchi-Suzzi et al.   PLoS One

The RNA Binding Protein RBM38 (RNPC1) Regulates Splicing during Late Erythroid Differentiation

(2013) Laurie A. Heinicke et al.   PLoS One

Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons

(2013) L. George et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia

(2012) Paula Dietrich et al.   HUMAN MOLECULAR GENETICS

Large-scale screening using familial dysautonomia induced pluripotent stem cells identifies compounds that rescue IKBKAP expression

(2012) Gabsang Lee et al.   NATURE BIOTECHNOLOGY

Pre-mRNA splicing in disease and therapeutics

(2012) Ravi K. Singh et al.   TRENDS IN MOLECULAR MEDICINE

Muscle-Specific Splicing Factors ASD-2 and SUP-12 Cooperatively Switch Alternative Pre-mRNA Processing Patterns of the ADF/Cofilin Gene in Caenorhabditis elegans

(2012) Genta Ohno et al.   PLoS Genetics

Loss of exon identity is a common mechanism of human inherited disease

(2011) T. Sterne-Weiler et al.   GENOME RESEARCH

Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes

(2011) K. H. Lim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

HMGA1a Trapping of U1 snRNP at an Authentic 5' Splice Site Induces Aberrant Exon Skipping in Sporadic Alzheimer's Disease

(2010) K. Ohe et al.   MOLECULAR AND CELLULAR BIOLOGY

Visualization and genetic analysis of alternative splicing regulation in vivo using fluorescence reporters in transgenic Caenorhabditis elegans

(2010) Hidehito Kuroyanagi et al.   Nature Protocols

Splicing Reporter Mice Revealed the Evolutionally Conserved Switching Mechanism of Tissue-Specific Alternative Exon Selection

(2010) Akihide Takeuchi et al.   PLoS One

Phosphatidylserine Increases IKBKAP Levels in Familial Dysautonomia Cells

(2010) Hadas Keren et al.   PLoS One

RNA-binding proteins Rbm38 and Rbm24 regulate myogenic differentiation via p21-dependent and -independent regulatory pathways

(2009) Shoko Miyamoto et al.   GENES TO CELLS

MicroRNA-125b Promotes Neuronal Differentiation in Human Cells by Repressing Multiple Targets

(2009) M. T. N. Le et al.   MOLECULAR AND CELLULAR BIOLOGY

ESRP1 and ESRP2 Are Epithelial Cell-Type-Specific Regulators of FGFR2 Splicing

(2009) Claude C. Warzecha et al.   MOLECULAR CELL

Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs

(2009) Gabsang Lee et al.   NATURE

Global Expression Profile of Highly Enriched Cardiomyocytes Derived from Human Embryonic Stem Cells

(2009) Xiu Qin Xu et al.   STEM CELLS

Downstream utrophin enhancer is required for expression of utrophin in skeletal muscle

(2008) Jun Tanihata et al.   JOURNAL OF GENE MEDICINE