Aberrant splicing in neurological diseases

ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43

(2013) E. S. Arnold et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rare inheritedA2BP1deletion in a proband with autism and developmental hemiparesis

(2012) L.K. Davis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fractionation of social brain circuits in autism spectrum disorders

(2012) Stephen J. Gotts et al.   BRAIN

RNA-binding proteins in microsatellite expansion disorders: Mediators of RNA toxicity

(2012) Gloria V. Echeverria et al.   BRAIN RESEARCH

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

(2012) Francesco Lotti et al.   CELL

Prader-Willi syndrome

(2012) Suzanne B. Cassidy et al.   GENETICS IN MEDICINE

Muscleblind-like 2-Mediated Alternative Splicing in the Developing Brain and Dysregulation in Myotonic Dystrophy

(2012) Konstantinos Charizanis et al.   NEURON

The spliceosome: a flexible, reversible macromolecular machine

(2012) Aaron A. Hoskins et al.   TRENDS IN BIOCHEMICAL SCIENCES

Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain

(2012) Boris Rogelj et al.   Scientific Reports

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

Current concepts and management of glioblastoma

(2011) Matthias Preusser et al.   ANNALS OF NEUROLOGY

The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease

(2011) Martina Minnerop et al.   BRAIN

Function ofERBB4is determined by alternative splicing

(2011) Ville Veikkolainen et al.   CELL CYCLE

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene

(2011) R Nagy et al.   CLINICAL GENETICS

Splicing factor hnRNPH drives an oncogenic splicing switch in gliomas

(2011) Clare V LeFave et al.   EMBO JOURNAL

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

RNA Helicase p68 (DDX5) Regulates tau Exon 10 Splicing by Modulating a Stem-Loop Structure at the 5' Splice Site

(2011) A. Kar et al.   MOLECULAR AND CELLULAR BIOLOGY

PTBP1-dependent regulation of USP5 alternative RNA splicing plays a role in glioblastoma tumorigenesis

(2011) Daisy I. Izaguirre et al.   MOLECULAR CARCINOGENESIS

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu et al.   NATURE

The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain

(2011) Lauren T Gehman et al.   NATURE 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

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43

(2011) Magdalini Polymenidou et al.   NATURE NEUROSCIENCE

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43

(2011) James R Tollervey et al.   NATURE NEUROSCIENCE

Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France

(2011) Tu Duong et al.   Orphanet Journal of Rare Diseases

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

Tumor metabolism: hnRNP proteins get in on the act

(2010) Mo Chen et al.   CELL CYCLE

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

(2010) Chantal Sellier et al.   EMBO JOURNAL

Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model

(2010) Y. Hua et al.   GENES & DEVELOPMENT

The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing

(2010) Shivendra Kishore 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

An expansion in ALS genetics

(2010) Clotilde Lagier-Tourenne et al.   NATURE

Expansion of the eukaryotic proteome by alternative splicing

(2010) Timothy W. Nilsen et al.   NATURE

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

(2010) J. Yan et al.   NEUROLOGY

The alternative splicing repressors hnRNP A1/A2 and PTB influence pyruvate kinase isoform expression and cell metabolism

(2010) C. V. Clower et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Regulation of alternative splicing by short non-coding nuclear RNAs

(2010) Amit Khanna et al.   RNA Biology

Spliceosome Structure and Function

(2010) C. L. Will et al.   Cold Spring Harbor Perspectives in Biology

Glioblastoma multiforme: a review of where we have been and where we are going

(2009) Cory Adamson et al.   EXPERT OPINION ON INVESTIGATIONAL DRUGS

Loss of the imprinted snoRNA mbii-52 leads to increased 5htr2c pre-RNA editing and altered 5HT2CR-mediated behaviour

(2009) Christine M. Doe et al.   HUMAN MOLECULAR GENETICS

PKC inhibition ameliorates the cardiac phenotype in a mouse model of myotonic dystrophy type 1

(2009) Guey-Shin Wang et al.   JOURNAL OF CLINICAL INVESTIGATION

Schizophrenia

(2009) Jim van Os et al.   LANCET

HnRNP proteins controlled by c-Myc deregulate pyruvate kinase mRNA splicing in cancer

(2009) Charles J. David et al.   NATURE

Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches

(2009) Mo Chen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Rescuing Z+ agrin splicing in Nova null mice restores synapse formation and unmasks a physiologic defect in motor neuron firing

(2009) M. Ruggiu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DISC1 splice variants are upregulated in schizophrenia and associated with risk polymorphisms

(2009) K. Nakata et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Dscam-Mediated Cell Recognition Regulates Neural Circuit Formation

(2008) Daisuke Hattori et al.   Annual Review of Cell and Developmental Biology

Control of alternative pre-mRNA splicing by Ca++ signals

(2008) Jiuyong Xie   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Global analysis of aberrant pre-mRNA splicing in glioblastoma using exon expression arrays

(2008) Hannah C Cheung et al.   BMC GENOMICS

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

(2008) Zhenxi Zhang et al.   CELL

Defining the regulatory network of the tissue-specific splicing factors Fox-1 and Fox-2

(2008) C. Zhang et al.   GENES & DEVELOPMENT

Schizophrenia-Related Neural and Behavioral Phenotypes in Transgenic Mice Expressing Truncated Disc1

(2008) S. Shen et al.   JOURNAL OF NEUROSCIENCE

Repression of Prespliceosome Complex Formation at Two Distinct Steps by Fox-1/Fox-2 Proteins

(2008) H.-L. Zhou et al.   MOLECULAR AND CELLULAR BIOLOGY

Tau exon 10 alternative splicing and tauopathies

(2008) Fei Liu et al.   Molecular Neurodegeneration

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

The M2 splice isoform of pyruvate kinase is important for cancer metabolism and tumour growth

(2008) Heather R. Christofk et al.   NATURE

RNA toxicity is a component of ataxin-3 degeneration in Drosophila

(2008) Ling-Bo Li et al.   NATURE

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

(2008) Qun Pan et al.   NATURE GENETICS

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

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

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

Overexpression of MBNL1 fetal isoforms and modified splicing of Tau in the DM1 brain: Two individual consequences of CUG trinucleotide repeats

(2007) C.M. Dhaenens et al.   EXPERIMENTAL NEUROLOGY