Invited Review: Decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art

Structure and Function of Pre-mRNA 5′-End Capping Quality Control and 3′-End Processing

(2014) Ashley R. Jurado et al.   BIOCHEMISTRY

PSF contacts exon 7 of SMN2 pre-mRNA to promote exon 7 inclusion

(2014) Sunghee Cho et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

hnRNP M facilitates exon 7 inclusion of SMN2 pre-mRNA in spinal muscular atrophy by targeting an enhancer on exon 7

(2014) Sunghee Cho et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

(2014) Johnathan Cooper-Knock et al.   BRAIN

Ribosomal Protein s15 Phosphorylation Mediates LRRK2 Neurodegeneration in Parkinson’s Disease

(2014) Ian Martin et al.   CELL

A double-edged sword: R loops as threats to genome integrity and powerful regulators of gene expression

(2014) K. Skourti-Stathaki et al.   GENES & DEVELOPMENT

Profiling the genes affected by pathogenic TDP-43 in astrocytes

(2014) Cao Huang et al.   JOURNAL OF NEUROCHEMISTRY

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

(2014) Janel O Johnson et al.   NATURE NEUROSCIENCE

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

(2014) Adrian J. Waite et al.   NEUROBIOLOGY OF AGING

Axonal Transport of TDP-43 mRNA Granules Is Impaired by ALS-Causing Mutations

(2014) Nael H. Alami et al.   NEURON

Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones

(2014) J. Robin Highley et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

(2014) S. Mizielinska et al.   SCIENCE

Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells

(2014) I. Kwon et al.   SCIENCE

An ALS-associated mutation in the FUS 3′-UTR disrupts a microRNA–FUS regulatory circuitry

(2014) Stefano Dini Modigliani et al.   Nature Communications

Insights From Cerebellar Transcriptomic Analysis Into the Pathogenesis of Ataxia

(2014) Conceição Bettencourt et al.   JAMA Neurology

C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci

(2013) Sarah Mizielinska et al.   ACTA NEUROPATHOLOGICA

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

(2013) Kohji Mori et al.   ACTA NEUROPATHOLOGICA

hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

(2013) Kohji Mori et al.   ACTA NEUROPATHOLOGICA

Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

(2013) Veronique V. Belzil et al.   ACTA NEUROPATHOLOGICA

Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion

(2013) Zhengrui Xi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nucleolar dysfunction in Huntington's disease

(2013) Junghee Lee et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

(2013) Cecilia Mancini et al.   BMC Medical Genomics

Expression of Expanded CAG Transcripts Triggers Nucleolar Stress in Huntington's Disease

(2013) Ho Tsoi et al.   CEREBELLUM

Motor neurone disease: a practical update on diagnosis and management

(2013) P. J. Shaw et al.   CLINICAL MEDICINE

How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches

(2013) Brunhilde Wirth et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Molecular determinants of the axonal mRNA transcriptome

(2013) Cynthia Gomes et al.   Developmental Neurobiology

Role of oxidative DNA damage in mitochondrial dysfunction and Huntington’s disease pathogenesis

(2013) Sylvette Ayala-Peña   FREE RADICAL BIOLOGY AND MEDICINE

PGC-1α, mitochondrial dysfunction, and Huntington's disease

(2013) Ashu Johri et al.   FREE RADICAL BIOLOGY AND MEDICINE

RNA binding mediates neurotoxicity in the transgenic Drosophila model of TDP-43 proteinopathy

(2013) Ryoko Ihara et al.   HUMAN MOLECULAR GENETICS

Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy

(2013) Jong-Min Lee et al.   HUMAN MOLECULAR GENETICS

SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy

(2013) Kelvin See et al.   HUMAN MOLECULAR GENETICS

TARDBPandFUSMutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

(2013) Serena Lattante et al.   HUMAN MUTATION

The Disease-associated r(GGGGCC)nRepeat from theC9orf72Gene Forms Tract Length-dependent Uni- and Multimolecular RNA G-quadruplex Structures

(2013) Kaalak Reddy et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Tudor protein survival motor neuron (SMN) is a chromatin-binding protein that interacts with methylated lysine 79 of histone H3

(2013) M. Sabra et al.   JOURNAL OF CELL SCIENCE

TDP-43 associates with stalled ribosomes and contributes to cell survival during cellular stress

(2013) Shinji Higashi et al.   JOURNAL OF NEUROCHEMISTRY

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

(2013) Hong Joo Kim et al.   NATURE

Therapeutic modulation of eIF2α phosphorylation rescues TDP-43 toxicity in amyotrophic lateral sclerosis disease models

(2013) Hyung-Jun Kim et al.   NATURE GENETICS

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis

(2013) Matthew B. Harms et al.   NEUROBIOLOGY OF AGING

C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles

(2013) J. Cooper-Knock et al.   NEUROLOGY

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

(2013) Peter E.A. Ash et al.   NEURON

RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention

(2013) Christopher J. Donnelly et al.   NEURON

Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

(2013) Shuo-Chien Ling et al.   NEURON

Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy

(2013) Z. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

(2013) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration

(2013) Z. Xu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

(2013) C. Lagier-Tourenne et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease

(2013) K. Sathasivam et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Developmental arrest of Drosophila survival motor neuron (Smn) mutants accounts for differences in expression of minor intron-containing genes

(2013) E. L. Garcia et al.   RNA

FUS regulates genes coding for RNA-binding proteins in neurons by binding to their highly conserved introns

(2013) T. Nakaya et al.   RNA

Genome-wide identification of mRNAs associated with the protein SMN whose depletion decreases their axonal localization

(2013) F. Rage et al.   RNA

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

ATAXIN-2 Activates PERIOD Translation to Sustain Circadian Rhythms in Drosophila

(2013) C. Lim et al.   SCIENCE

A Role for Drosophila ATX2 in Activation of PER Translation and Circadian Behavior

(2013) Y. Zhang et al.   SCIENCE

Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion

(2013) D. Sareen et al.   Science Translational Medicine

Oxidative stress causes DNA triplet expansion in Huntington's disease mouse embryonic stem cells

(2013) Ida Jonson et al.   Stem Cell Research

Alternative cleavage and polyadenylation: the long and short of it

(2013) Bin Tian et al.   TRENDS IN BIOCHEMICAL SCIENCES

Postage for the messenger: designating routes for nuclear mRNA export

(2013) Barbara J. Natalizio et al.   TRENDS IN CELL BIOLOGY

Investigating cell death mechanisms in amyotrophic lateral sclerosis using transcriptomics

(2013) Paul R. Heath et al.   Frontiers in Cellular Neuroscience

Mechanisms of RNA-induced toxicity in CAG repeat disorders

(2013) R Nalavade et al.   Cell Death & Disease

Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

(2013) Youn-Bok Lee et al.   Cell Reports

The ALS/FTLD-related RNA-binding proteins TDP-43 and FUS have common downstream RNA targets in cortical neurons

(2013) Daiyu Honda et al.   FEBS Open Bio

Multiple Aspects of Gene Dysregulation in Huntington’s Disease

(2013) Lara Moumné et al.   Frontiers in Neurology

Unravelling the enigma of selective vulnerability in neurodegeneration: motor neurons resistant to degeneration in ALS show distinct gene expression characteristics and decreased susceptibility to excitotoxicity

(2012) Alice Brockington et al.   ACTA NEUROPATHOLOGICA

Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p

(2012) Heather Stewart et al.   ACTA NEUROPATHOLOGICA

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

(2012) Jacqueline C. Mitchell et al.   ACTA NEUROPATHOLOGICA

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72

(2012) Johnathan Cooper-Knock et al.   BRAIN

Spinal muscular atrophy: The role of SMN in axonal mRNA regulation

(2012) Claudia Fallini et al.   BRAIN RESEARCH

Comparative analyses of Purkinje cell gene expression profiles reveal shared molecular abnormalities in models of different polyglutamine diseases

(2012) Bernd Friedrich et al.   BRAIN RESEARCH

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

(2012) Francesco Lotti et al.   CELL

Huntingtin protein interactions altered by polyglutamine expansion as determined by quantitative proteomic analysis

(2012) Tamara Ratovitski et al.   CELL CYCLE

Induced Pluripotent Stem Cells from Patients with Huntington's Disease Show CAG-Repeat-Expansion-Associated Phenotypes

(2012) The HD iPSC Consortium   Cell Stem Cell

Altered Expression of Carbonic Anhydrase-Related Protein XI in Neuronal Cells Expressing Mutant Ataxin-3

(2012) Mingli Hsieh et al.   CEREBELLUM

Can Transcriptomics Cut the Gordian Knot of Amyotrophic Lateral Sclerosis?

(2012) Alexandre Henriques et al.   CURRENT GENOMICS

FUS stimulates microRNA biogenesis by facilitating co-transcriptional Drosha recruitment

(2012) Mariangela Morlando et al.   EMBO JOURNAL

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

(2012) Hitomi Tsuiji et al.   EMBO Molecular Medicine

Cognitive and affective impairments of a novel SCA/MND crossroad mutation Asidan

(2012) K. Abe et al.   EUROPEAN JOURNAL OF NEUROLOGY

The RNA polymerase II CTD coordinates transcription and RNA processing

(2012) J.-P. Hsin et al.   GENES & DEVELOPMENT

Early transcriptional changes linked to naturally occurring Huntington's disease mutations in neural derivatives of human embryonic stem cells

(2012) Maxime Feyeux et al.   HUMAN MOLECULAR GENETICS

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis

(2012) Julien Couthouis et al.   HUMAN MOLECULAR GENETICS

Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model

(2012) Thomas W. Bebee et al.   HUMAN MOLECULAR GENETICS

Dysregulation of REST-regulated coding and non-coding RNAs in a cellular model of Huntington's disease

(2012) Chiara Soldati et al.   JOURNAL OF NEUROCHEMISTRY

Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions ofC9ORF72

(2012) Azza Ismail et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs

(2012) Clotilde Lagier-Tourenne et al.   NATURE NEUROSCIENCE

Gene expression profiling in human neurodegenerative disease

(2012) Johnathan Cooper-Knock et al.   Nature Reviews Neurology

Regional vulnerability in Huntington's disease: fMRI-guided molecular analysis in patients and a mouse model of disease

(2012) Nicole M. Lewandowski et al.   NEUROBIOLOGY OF DISEASE

TDP-43 promotes microRNA biogenesis as a component of the Drosha and Dicer complexes

(2012) Y. Kawahara et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PGC-1  Rescues Huntington's Disease Proteotoxicity by Preventing Oxidative Stress and Promoting TFEB Function

(2012) T. Tsunemi et al.   Science Translational Medicine

Pre-mRNA splicing in disease and therapeutics

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

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

(2012) Boris Rogelj et al.   Scientific Reports

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

(2012) Pietro Fratta et al.   Scientific Reports

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

(2012) Tomohiro Yamazaki et al.   Cell Reports

ATXN2-CAG42 Sequesters PABPC1 into Insolubility and Induces FBXW8 in Cerebellum of Old Ataxic Knock-In Mice

(2012) Ewa Damrath et al.   PLoS Genetics

A Pathogenic Mechanism in Huntington's Disease Involves Small CAG-Repeated RNAs with Neurotoxic Activity

(2012) Mónica Bañez-Coronel et al.   PLoS Genetics

Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease

(2012) Dapeng Zhang et al.   Frontiers in Genetics

Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology

(2011) Paul G. Ince et al.   ACTA NEUROPATHOLOGICA

Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement

(2011) Hatasu Kobayashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis

(2011) N. Ticozzi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Differential expression of THOC1 and ALY mRNP biogenesis/export factors in human cancers

(2011) María S Domínguez-Sánchez et al.   BMC CANCER

Phosphatase and tensin homologue/protein kinase B pathway linked to motor neuron survival in human superoxide dismutase 1-related amyotrophic lateral sclerosis

(2011) Janine Kirby et al.   BRAIN

Linking gene regulation to mRNA production and export

(2011) Susana Rodríguez-Navarro et al.   CURRENT OPINION IN CELL BIOLOGY

α-Synuclein accumulates in huntingtin inclusions but forms independent filaments and its deficiency attenuates early phenotype in a mouse model of Huntington's disease

(2011) Cristina Tomás-Zapico et al.   HUMAN MOLECULAR GENETICS

Mitogen- and stress-activated protein kinase 1-induced neuroprotection in Huntington's disease: role on chromatin remodeling at the PGC-1-alpha promoter

(2011) Elodie Martin et al.   HUMAN MOLECULAR GENETICS

A Drosophila model of the neurodegenerative disease SCA17 reveals a role of RBP-J/Su(H) in modulating the pathological outcome

(2011) Jie Ren et al.   HUMAN MOLECULAR GENETICS

HD CAG-correlated gene expression changes support a simple dominant gain of function

(2011) Jessie C. Jacobsen et al.   HUMAN MOLECULAR GENETICS

Cellular toxicity of expanded RNA repeats: focus on RNA foci

(2011) Marzena Wojciechowska et al.   HUMAN MOLECULAR GENETICS

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

(2011) Ilse Gijselinck et al.   LANCET NEUROLOGY

A Role for SMN Exon 7 Splicing in the Selective Vulnerability of Motor Neurons in Spinal Muscular Atrophy

(2011) M. Ruggiu et al.   MOLECULAR AND CELLULAR BIOLOGY

RNA targets of TDP-43 identified by UV-CLIP are deregulated in ALS

(2011) Shangxi Xiao et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

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

(2011) James R Tollervey et al.   NATURE NEUROSCIENCE

Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis

(2011) Laura Ferraiuolo et al.   Nature Reviews Neurology

Gene expression profiling of the brain: Pondering facts and fiction

(2011) Amanda C. Mitchell et al.   NEUROBIOLOGY OF DISEASE

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Neuropathology and omics in motor neuron diseases

(2011) Fumiaki Tanaka et al.   NEUROPATHOLOGY

TDP-43 regulates global translational yield by splicing of exon junction complex component SKAR

(2011) Fabienne C. Fiesel et al.   NUCLEIC ACIDS RESEARCH

Triplet repeat RNA structure and its role as pathogenic agent and therapeutic target

(2011) W. J. Krzyzosiak et al.   NUCLEIC ACIDS RESEARCH

Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

(2011) Nathaniel Whaley et al.   Orphanet Journal of Rare Diseases

Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits

(2011) B. Akten et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A yeast functional screen predicts new candidate ALS disease genes

(2011) J. Couthouis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A brief survey of mRNA surveillance

(2011) Ambro van Hoof et al.   TRENDS IN BIOCHEMICAL SCIENCES

Biogenesis of spliceosomal small nuclear ribonucleoproteins

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

Structure and function of mRNA export adaptors

(2010) Matthew J. Walsh et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

The proteasome and its regulatory roles in gene expression

(2010) Jaechan Kwak et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy

(2010) Simona Pedrotti et al.   EMBO JOURNAL

A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity

(2010) S. Cho et al.   GENES & DEVELOPMENT

Transcriptional changes in Huntington disease identified using genome-wide expression profiling and cross-platform analysis

(2010) K. Becanovic et al.   HUMAN MOLECULAR GENETICS

A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2

(2010) Francine M. Jodelka et al.   HUMAN MOLECULAR GENETICS

Alpha-Synuclein Loss in Spinal Muscular Atrophy

(2010) Gyula Acsadi et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

CSF chemokine alterations related to the clinical course of amyotrophic lateral sclerosis

(2010) Takahisa Tateishi et al.   JOURNAL OF NEUROIMMUNOLOGY

Cytoplasmic Mislocalization of TDP-43 Is Toxic to Neurons and Enhanced by a Mutation Associated with Familial Amyotrophic Lateral Sclerosis

(2010) S. J. Barmada et al.   JOURNAL OF NEUROSCIENCE

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

(2010) Ian RA Mackenzie et al.   LANCET NEUROLOGY

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

(2010) Andrew C. Elden et al.   NATURE

The developmental transcriptome of Drosophila melanogaster

(2010) Brenton R. Graveley et al.   NATURE

Huntingtin Is Required for Mitotic Spindle Orientation and Mammalian Neurogenesis

(2010) Juliette D. Godin et al.   NEURON

ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS

(2010) S.-C. Ling et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

miRNA malfunction causes spinal motor neuron disease

(2010) S. Haramati et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Non-ATG-initiated translation directed by microsatellite expansions

(2010) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice

(2010) X. Shan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Roles of RNA in the Synthesis of Protein

(2010) P. B. Moore et al.   Cold Spring Harbor Perspectives in Biology

Spliceosome Structure and Function

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

Inactivation of hnRNP K by Expanded Intronic AUUCU Repeat Induces Apoptosis Via Translocation of PKCδ to Mitochondria in Spinocerebellar Ataxia 10

(2010) Misti C. White et al.   PLoS Genetics

A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

(2009) Thomas W. Prior et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)n

(2009) Nozomu Sato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rethinking ALS: The FUS about TDP-43

(2009) Clotilde Lagier-Tourenne et al.   CELL

RNA and Disease

(2009) Thomas A. Cooper et al.   CELL

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

(2009) Edor Kabashi et al.   HUMAN MOLECULAR GENETICS

A rareSMN2variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

(2009) Myriam Vezain et al.   HUMAN MUTATION

Incidence of amyotrophic lateral sclerosis in Europe

(2009) G. Logroscino et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophy

(2009) Hong Liu et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Large facilities and the evolving ribosome, the cellular machine for genetic-code translation

(2009) A. Yonath   Journal of the Royal Society Interface

Polyglutamine-expanded ataxin-7 causes cerebellar dysfunction by inducing transcriptional dysregulation

(2009) An-Hsun Chou et al.   NEUROCHEMISTRY INTERNATIONAL

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

RNA Gain-of-Function in Spinocerebellar Ataxia Type 8

(2009) Randy S. Daughters et al.   PLoS Genetics

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

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

(2008) Zhenxi Zhang et al.   CELL

Biogenesis of mRNPs: integrating different processes in the eukaryotic nucleus

(2008) Rosa Luna et al.   CHROMOSOMA

Huntingtin phosphorylation acts as a molecular switch for anterograde/retrograde transport in neurons

(2008) Emilie Colin et al.   EMBO JOURNAL

Variants of the elongator protein 3 ( ELP3 ) gene are associated with motor neuron degeneration

(2008) Claire L. Simpson et al.   HUMAN MOLECULAR GENETICS

Altered Histone Monoubiquitylation Mediated by Mutant Huntingtin Induces Transcriptional Dysregulation

(2008) M.-O. Kim et al.   JOURNAL OF NEUROSCIENCE

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

The RNA Binding Protein hnRNP Q Modulates the Utilization of Exon 7 in the Survival Motor Neuron 2 (SMN2) Gene

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

Huntington's disease protein contributes to RNA-mediated gene silencing through association with Argonaute and P bodies

(2008) J. N. Savas et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutually exclusive interactions drive handover of mRNA from export adaptors to TAP

(2008) Guillaume M. Hautbergue 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

Chromosomal profiles of gene expression in Huntington's disease

(2007) A. N. Anderson et al.   BRAIN

A microRNA-based gene dysregulation pathway in Huntington's disease

(2007) Rory Johnson et al.   NEUROBIOLOGY OF DISEASE