A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing

Impaired spliceosomal UsnRNP assembly leads to Sm mRNA down-regulation and Sm protein degradation

(2017) Archana Bairavasundaram Prusty et al.   JOURNAL OF CELL BIOLOGY

A U1 snRNP–specific assembly pathway reveals the SMN complex as a versatile hub for RNP exchange

(2016) Byung Ran So et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

A U1 snRNP–specific assembly pathway reveals the SMN complex as a versatile hub for RNP exchange

(2016) Byung Ran So et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2)

(2014) Sebastian Fröhler et al.   BMC Medical Genetics

Widespread intron retention in mammals functionally tunes transcriptomes

(2014) Ulrich Braunschweig et al.   GENOME RESEARCH

Mutations inSNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome

(2014) Séverine Bacrot et al.   HUMAN MUTATION

Identification of a PRPF4 Loss-of-Function Variant That Abrogates U4/U6.U5 Tri-snRNP Integration and Is Associated with Retinitis Pigmentosa

(2014) Bastian Linder et al.   PLoS One

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

(2014) Danielle C. Lynch et al.   Nature Communications

The functional consequences of intron retention: Alternative splicing coupled to NMD as a regulator of gene expression

(2013) Ying Ge et al.   BIOESSAYS

Orchestrated Intron Retention Regulates Normal Granulocyte Differentiation

(2013) Justin J.-L. Wong et al.   CELL

Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation

(2013) Yongbo Wang et al.   EMBO Molecular Medicine

Regulation of constitutive and alternative splicing by PRMT5 reveals a role for Mdm4 pre-mRNA in sensing defects in the spliceosomal machinery

(2013) M. Bezzi et al.   GENES & DEVELOPMENT

Retinitis Pigmentosa Mutations ofSNRNP200Enhance Cryptic Splice-Site Recognition

(2013) Zuzana Cvačková et al.   HUMAN MUTATION

Structural Basis of Assembly Chaperone- Mediated snRNP Formation

(2013) Clemens Grimm et al.   MOLECULAR CELL

Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

(2012) Sandra M. Pasternack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Tau alternative splicing in familial and sporadic tauopathies

(2012) Michael Niblock et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Mutation of a U2 snRNA Gene Causes Global Disruption of Alternative Splicing and Neurodegeneration

(2012) Yichang Jia et al.   CELL

Coordinated regulation of neuronal mRNA steady-state levels through developmentally controlled intron retention

(2012) K. Yap et al.   GENES & DEVELOPMENT

ENU mutagenesis in mice identifies candidate genes for hypogonadism

(2012) Jeffrey Weiss et al.   MAMMALIAN GENOME

The spliceosome as a target of novel antitumour drugs

(2012) Sophie Bonnal et al.   NATURE REVIEWS DRUG DISCOVERY

Pre-mRNA splicing in disease and therapeutics

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

CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance

(2012) Giulia Venturini et al.   PLoS Genetics

A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa

(2011) Goranka Tanackovic et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Regulation of alternative splicing by the core spliceosomal machinery

(2011) A. L. Saltzman et al.   GENES & DEVELOPMENT

Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

(2011) P. Edery et al.   SCIENCE

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

(2011) H. He et al.   SCIENCE

Understanding splicing regulation through RNA splicing maps

(2011) Joshua T. Witten et al.   TRENDS IN GENETICS

Lhx2 and Lhx9 Determine Neuronal Differentiation and Compartition in the Caudal Forebrain by Regulating Wnt Signaling

(2011) Daniela Peukert et al.   PLOS BIOLOGY

Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa†

(2010) Bastian Linder et al.   HUMAN MOLECULAR GENETICS

The developmental transcriptome of Drosophila melanogaster

(2010) Brenton R. Graveley et al.   NATURE

Deciphering the splicing code

(2010) Yoseph Barash et al.   NATURE

Expansion of the eukaryotic proteome by alternative splicing

(2010) Timothy W. Nilsen et al.   NATURE

RNA and Disease

(2009) Thomas A. Cooper et al.   CELL

The Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

Cajal-body formation correlates with differential coilin phosphorylation in primary and transformed cell lines

(2009) S. M. Hearst et al.   JOURNAL OF CELL SCIENCE

Protein Arginine Methylation in Mammals: Who, What, and Why

(2009) Mark T. Bedford et al.   MOLECULAR CELL

SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in Splicing

(2008) Zhenxi Zhang et al.   CELL

An Assembly Chaperone Collaborates with the SMN Complex to Generate Spliceosomal SnRNPs

(2008) Ashwin Chari et al.   CELL

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

(2008) Qun Pan et al.   NATURE GENETICS

Tissue-specific splicing factor gene expression signatures

(2008) Ana Rita Grosso et al.   NUCLEIC ACIDS RESEARCH