SMN2 splice modulators enhance U1–pre-mRNA association and rescue SMA mice

Crystal structure of human U1 snRNP, a small nuclear ribonucleoprotein particle, reveals the mechanism of 5′ splice site recognition

(2015) Yasushi Kondo et al.   eLife

Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation

(2014) Shingo Kariya et al.   JOURNAL OF CLINICAL INVESTIGATION

A day in the life of the spliceosome

(2014) A. Gregory Matera et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The human splicing code reveals new insights into the genetic determinants of disease

(2014) H. Y. Xiong et al.   SCIENCE

SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy

(2014) N. A. Naryshkin et al.   SCIENCE

Pick one, but be quick: 5' splice sites and the problems of too many choices

(2013) X. Roca et al.   GENES & DEVELOPMENT

The Alternative Heart: Impact of Alternative Splicing in Heart Disease

(2013) Enrique Lara-Pezzi et al.   Journal of Cardiovascular Translational Research

Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models

(2012) Melissa Osborne et al.   HUMAN MOLECULAR GENETICS

ALiBERO: Evolving a Team of Complementary Pocket Conformations Rather than a Single Leader

(2012) Manuel Rueda et al.   Journal of Chemical Information and Modeling

Targeting RNA-splicing for SMA treatment

(2012) Jianhua Zhou et al.   MOLECULES AND CELLS

Fast gapped-read alignment with Bowtie 2

(2012) Ben Langmead et al.   NATURE METHODS

Spinal Muscular Atrophy

(2011) Stephen J. Kolb   ARCHIVES OF NEUROLOGY

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

(2011) Elaine A Sugarman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Temporal requirement for high SMN expression in SMA mice

(2011) T. T. Le et al.   HUMAN MOLECULAR GENETICS

SpliceDisease database: linking RNA splicing and disease

(2011) J. Wang et al.   NUCLEIC ACIDS RESEARCH

Prediction of alternative isoforms from exon expression levels in RNA-Seq experiments

(2010) Hugues Richard et al.   NUCLEIC ACIDS RESEARCH

An Efficient and Reversible Transposable System for Gene Delivery and Lineage-Specific Differentiation in Human Embryonic Stem Cells

(2009) Arnaud Lacoste et al.   Cell Stem Cell

Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling

(2009) Stuart M Chambers et al.   NATURE BIOTECHNOLOGY

MEME SUITE: tools for motif discovery and searching

(2009) T. L. Bailey et al.   NUCLEIC ACIDS RESEARCH

A computational approach for genome-wide mapping of splicing factor binding sites

(2009) Martin Akerman et al.   GENOME BIOLOGY

Antisense Masking of an hnRNP A1/A2 Intronic Splicing Silencer Corrects SMN2 Splicing in Transgenic Mice

(2008) Yimin Hua et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of a battery of tests for drug candidate evaluation in the SMNΔ7 neonate model of spinal muscular atrophy

(2008) Bassem F. El-Khodor et al.   EXPERIMENTAL NEUROLOGY

Spinal muscular atrophy

(2008) Mitchell R Lunn et al.   LANCET

Regulation of SMN Protein Stability

(2008) B. G. Burnett et al.   MOLECULAR AND CELLULAR BIOLOGY

Binding of DAZAP1 and hnRNPA1/A2 to an Exonic Splicing Silencer in a Natural BRCA1 Exon 18 Mutant

(2008) E. Goina et al.   MOLECULAR AND CELLULAR BIOLOGY

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

The MC-Fold and MC-Sym pipeline infers RNA structure from sequence data

(2008) Marc Parisien et al.   NATURE

Splicing regulation: From a parts list of regulatory elements to an integrated splicing code

(2008) Z. Wang et al.   RNA