Variant snRNPs: New players within the spliceosome system

TUT‐DIS3L2 is a mammalian surveillance pathway for aberrant structured non‐coding RNAs

(2016) Dmytro Ustianenko et al.   EMBO JOURNAL

Gene discovery in amyotrophic lateral sclerosis: implications for clinical management

(2016) Ammar Al-Chalabi et al.   Nature Reviews Neurology

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

The alternative splicing program of differentiated smooth muscle cells involves concerted non-productive splicing of post-transcriptional regulators

(2016) Miriam Llorian et al.   NUCLEIC ACIDS RESEARCH

Variant U1 snRNAs are implicated in human pluripotent stem cell maintenance and neuromuscular disease

(2016) Pilar Vazquez-Arango et al.   NUCLEIC ACIDS RESEARCH

The Spliceosome: The Ultimate RNA Chaperone and Sculptor

(2016) Panagiotis Papasaikas et al.   TRENDS IN BIOCHEMICAL SCIENCES

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

Dis3l2-Mediated Decay Is a Quality Control Pathway for Noncoding RNAs

(2016) Mehdi Pirouz et al.   Cell Reports

Expanding the role of the splicingUSB1gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms

(2015) Gloria Negri et al.   BRITISH JOURNAL OF HAEMATOLOGY

SnapShot: Spliceosome Dynamics I

(2015) Markus C. Wahl et al.   CELL

SnapShot: Spliceosome Dynamics II

(2015) Markus C. Wahl et al.   CELL

SnapShot: Spliceosome Dynamics III

(2015) Markus C. Wahl et al.   CELL

A review of craniofacial disorders caused by spliceosomal defects

(2015) D. Lehalle et al.   CLINICAL GENETICS

Human Mpn1 promotes post-transcriptional processing and stability of U6atac

(2015) Vadim Shchepachev et al.   FEBS LETTERS

Functional Splicing Network Reveals Extensive Regulatory Potential of the Core Spliceosomal Machinery

(2015) Panagiotis Papasaikas et al.   MOLECULAR CELL

Alternative Splicing in the Mammalian Nervous System: Recent Insights into Mechanisms and Functional Roles

(2015) Bushra Raj et al.   NEURON

U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish

(2015) Yong Yu et al.   NUCLEIC ACIDS RESEARCH

Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome

(2015) Vikas Madan et al.   Nature Communications

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

(2015) Daniele Merico et al.   Nature Communications

ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP

(2015) Shuying Sun et al.   Nature Communications

A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor

(2015) Elisa A. Colombo et al.   Scientific Reports

Alternative splicing: An important mechanism in stem cell biology

(2015) Kenian Chen   World Journal of Stem Cells

Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

(2014) Dagmar Wieczorek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Building Robust Transcriptomes with Master Splicing Factors

(2014) Mohini Jangi et al.   CELL

The Noncoding RNA Revolution—Trashing Old Rules to Forge New Ones

(2014) Thomas R. Cech et al.   CELL

The spliceosome: disorder and dynamics defined

(2014) Weijun Chen et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Minor splicing snRNAs are enriched in the developing mouse CNS and are crucial for survival of differentiating retinal neurons

(2014) Marybeth Baumgartner et al.   Developmental Neurobiology

U1 small nuclear RNA variants differentially form ribonucleoprotein particles in vitro

(2014) Jason A. Somarelli et al.   GENE

PRPF4 mutations cause autosomal dominant retinitis pigmentosa

(2014) Xue Chen et al.   HUMAN MOLECULAR GENETICS

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

(2014) Séverine Bacrot et al.   HUMAN MUTATION

Context-dependent control of alternative splicing by RNA-binding proteins

(2014) Xiang-Dong Fu et al.   NATURE REVIEWS GENETICS

A day in the life of the spliceosome

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

Estimation of theRNU2macrosatellite mutation rate byBRCA1mutation tracing

(2014) Chloé Tessereau et al.   NUCLEIC ACIDS RESEARCH

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

Biochemical defects in minor spliceosome function in the developmental disorder MOPD I

(2014) F. Jafarifar et al.   RNA

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

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

Developmental Analysis of Spliceosomal snRNA Isoform Expression

(2014) Zhipeng Lu et al.   G3-Genes Genomes Genetics

RNA decay via 3′ uridylation

(2013) Daniel D. Scott et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

X-Inactivation, Imprinting, and Long Noncoding RNAs in Health and Disease

(2013) Jeannie T. Lee et al.   CELL

Decreased number of Gemini of coiled bodies and U12 snRNA level in amyotrophic lateral sclerosis

(2013) Tomohiko Ishihara et al.   HUMAN MOLECULAR GENETICS

MBNL proteins repress ES-cell-specific alternative splicing and reprogramming

(2013) Hong Han et al.   NATURE

Human snRNA genes use polyadenylation factors to promote efficient transcription termination

(2013) Dawn O’Reilly et al.   NUCLEIC ACIDS RESEARCH

U6 RNA biogenesis and disease association

(2013) Seweryn Mroczek et al.   Wiley Interdisciplinary Reviews-RNA

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

(2012) Matthew A. Lines et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

(2012) Francois P. Bernier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes

(2012) F. Thol et al.   BLOOD

An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function

(2012) Francesco Lotti et al.   CELL

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

(2012) Yichang Jia et al.   CELL

U1 snRNP Determines mRNA Length and Regulates Isoform Expression

(2012) Michael G. Berg et al.   CELL

Spliceosome integrity is defective in the motor neuron diseases ALS and SMA

(2012) Hitomi Tsuiji et al.   EMBO Molecular Medicine

C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification

(2012) S. Mroczek et al.   GENES & DEVELOPMENT

Differentially expressed, variant U1 snRNAs regulate gene expression in human cells

(2012) D. O'Reilly et al.   GENOME RESEARCH

FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA

(2012) Tomohiro Yamazaki et al.   Cell Reports

Mpn1, Mutated in Poikiloderma with Neutropenia Protein 1, Is a Conserved 3′-to-5′ RNA Exonuclease Processing U6 Small Nuclear RNA

(2012) Vadim Shchepachev et al.   Cell Reports

The significant other: splicing by the minor spliceosome

(2012) Janne J. Turunen et al.   Wiley Interdisciplinary Reviews-RNA

Regulation of alternative splicing by the core spliceosomal machinery

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

PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa

(2011) Goranka Tanackovic et al.   HUMAN MOLECULAR GENETICS

Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa

(2011) Paola Benaglio et al.   HUMAN MUTATION

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

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

Biogenesis of spliceosomal small nuclear ribonucleoproteins

(2011) Utz Fischer et al.   Wiley Interdisciplinary Reviews-RNA

Impaired minor tri-snRNP assembly generates differential splicing defects of U12-type introns in lymphoblasts derived from a type I SMA patient

(2010) Nawal Boulisfane et al.   HUMAN MOLECULAR GENETICS

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration

(2010) C. Lagier-Tourenne et al.   HUMAN MOLECULAR GENETICS

Deciphering the splicing code

(2010) Yoseph Barash et al.   NATURE

Autosomal-Dominant Retinitis Pigmentosa Caused by a Mutation in SNRNP200, a Gene Required for Unwinding of U4/U6 snRNAs

(2009) Chen Zhao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

(2009) C. Vance et al.   SCIENCE

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

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

(2008) Zhenxi Zhang et al.   CELL

“Nought May Endure but Mutability”: Spliceosome Dynamics and the Regulation of Splicing

(2008) Duncan J. Smith et al.   MOLECULAR CELL

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE