Published in Brain on May 27, 2014
Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS. Nat Neurosci (2015) 2.42
Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits. Science (2015) 2.06
Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs. Neuron (2016) 1.35
Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing. Acta Neuropathol (2015) 1.22
TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets. Neurotherapeutics (2015) 1.15
Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice. Neuron (2015) 1.00
Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death. EMBO J (2016) 0.99
C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins. Nat Neurosci (2016) 0.99
Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy. Acta Neuropathol (2015) 0.93
C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function? Curr Opin Neurol (2014) 0.92
The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis. Neurotherapeutics (2015) 0.89
C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis. PLoS One (2015) 0.86
Invited review: decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art. Neuropathol Appl Neurobiol (2015) 0.85
The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease. Nat Rev Neurosci (2016) 0.84
Linking RNA Dysfunction and Neurodegeneration in Amyotrophic Lateral Sclerosis. Neurotherapeutics (2015) 0.83
RAN translation and frameshifting as translational challenges at simple repeats of human neurodegenerative disorders. Nucleic Acids Res (2014) 0.83
The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains. Elife (2016) 0.82
RNA-mediated pathogenic mechanisms in polyglutamine diseases and amyotrophic lateral sclerosis. Front Cell Neurosci (2014) 0.82
Molecular network analysis suggests a logical hypothesis for the pathological role of c9orf72 in amyotrophic lateral sclerosis/frontotemporal dementia. J Cent Nerv Syst Dis (2014) 0.82
Axonal transport defects are a common phenotype in Drosophila models of ALS. Hum Mol Genet (2016) 0.80
C9ORF72 Regulates Stress Granule Formation and Its Deficiency Impairs Stress Granule Assembly, Hypersensitizing Cells to Stress. Mol Neurobiol (2016) 0.79
Sponging of cellular proteins by viral RNAs. Curr Opin Virol (2014) 0.79
The role of TREX in gene expression and disease. Biochem J (2016) 0.79
A short conserved motif in ALYREF directs cap- and EJC-dependent assembly of export complexes on spliced mRNAs. Nucleic Acids Res (2016) 0.78
Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins. Neuropathol Appl Neurobiol (2015) 0.78
Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD. Acta Neuropathol Commun (2016) 0.78
Aberrant RNA homeostasis in amyotrophic lateral sclerosis: potential for new therapeutic targets? Neurodegener Dis Manag (2014) 0.78
Establishing the UK DNA Bank for motor neuron disease (MND). BMC Genet (2015) 0.78
RNA G-quadruplexes: emerging mechanisms in disease. Nucleic Acids Res (2016) 0.78
Inside out: the role of nucleocytoplasmic transport in ALS and FTLD. Acta Neuropathol (2016) 0.77
Familial Amyotrophic Lateral Sclerosis. Neurol Clin (2015) 0.77
Identifying proteins that bind to specific RNAs - focus on simple repeat expansion diseases. Nucleic Acids Res (2016) 0.76
Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene. Neurosci Lett (2016) 0.76
Immunoprecipitation and mass spectrometry defines an extensive RBM45 protein-protein interaction network. Brain Res (2016) 0.76
Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes. Trends Mol Med (2016) 0.76
C9orf72 expansion disrupts ATM-mediated chromosomal break repair. Nat Neurosci (2017) 0.75
In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers. Acta Neuropathol (2017) 0.75
Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration. Acta Neuropathol Commun (2017) 0.75
Suppression of C9orf72 RNA repeat-induced neurotoxicity by the ALS-associated RNA-binding protein Zfp106. Elife (2017) 0.75
RNA toxicity and foci formation in microsatellite expansion diseases. Curr Opin Genet Dev (2017) 0.75
C9orf72: At the intersection of lysosome cell biology and neurodegenerative disease. Traffic (2017) 0.75
Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells. Stem Cell Reports (2016) 0.75
Heterogeneous ribonuclear protein A3 (hnRNP A3) is present in dipeptide repeat protein containing inclusions in Frontotemporal Lobar Degeneration and Motor Neurone disease associated with expansions in C9orf72 gene. Acta Neuropathol Commun (2017) 0.75
C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten. Hum Mol Genet (2017) 0.75
Viral delivery of C9ORF72 hexanucleotide repeat expansions in mice lead to repeat length dependent neuropathology and behavioral deficits. Dis Model Mech (2017) 0.75
SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits. Nat Commun (2017) 0.75
Dysregulated molecular pathways in amyotrophic lateral sclerosis-frontotemporal dementia spectrum disorder. EMBO J (2017) 0.75
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc (2009) 137.99
Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei. Nucleic Acids Res (1983) 124.30
Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists. Nucleic Acids Res (2008) 54.83
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science (2006) 27.96
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron (2011) 20.15
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science (2013) 6.34
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron (2013) 5.91
The protein Aly links pre-messenger-RNA splicing to nuclear export in metazoans. Nature (2000) 5.57
Evidence for reassociation of RNA-binding proteins after cell lysis: implications for the interpretation of immunoprecipitation analyses. RNA (2004) 4.23
REF, an evolutionary conserved family of hnRNP-like proteins, interacts with TAP/Mex67p and participates in mRNA nuclear export. RNA (2000) 4.10
SR splicing factors serve as adapter proteins for TAP-dependent mRNA export. Mol Cell (2003) 3.61
RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron (2013) 3.25
Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet (2004) 3.21
Nuclear speckles. Cold Spring Harb Perspect Biol (2011) 3.04
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration. Proc Natl Acad Sci U S A (2013) 2.95
Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion. Sci Transl Med (2013) 2.89
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proc Natl Acad Sci U S A (2013) 2.31
Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration. Proc Natl Acad Sci U S A (2013) 2.30
Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain (2012) 2.28
hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations. Acta Neuropathol (2013) 2.27
Heterogeneous nuclear ribonucleoprotein F/H proteins modulate the alternative splicing of the apoptotic mediator Bcl-x. J Biol Chem (2005) 2.15
Proteomic analysis of interchromatin granule clusters. Mol Biol Cell (2004) 2.12
C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci Rep (2012) 2.09
The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures. J Biol Chem (2013) 1.97
Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion. Am J Hum Genet (2013) 1.97
Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic. Cell Rep (2013) 1.96
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS. Acta Neuropathol (2013) 1.95
Stages of pTDP-43 pathology in amyotrophic lateral sclerosis. Ann Neurol (2013) 1.89
Molecular basis of RNA recognition and TAP binding by the SR proteins SRp20 and 9G8. EMBO J (2006) 1.78
Mutually exclusive interactions drive handover of mRNA from export adaptors to TAP. Proc Natl Acad Sci U S A (2008) 1.60
Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations. Acta Neuropathol (2013) 1.59
C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci. Acta Neuropathol (2013) 1.51
UIF, a New mRNA export adaptor that works together with REF/ALY, requires FACT for recruitment to mRNA. Curr Biol (2009) 1.45
Structural and functional analysis of RNA and TAP binding to SF2/ASF. EMBO Rep (2007) 1.28
Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains. J Cell Biol (2007) 1.16
TDP-43 localizes in mRNA transcription and processing sites in mammalian neurons. J Struct Biol (2009) 1.11
Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis. Neurobiol Aging (2013) 1.08
C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration. Neurology (2013) 1.06
mRNA export: RNP remodeling by DEAD-box proteins. Curr Biol (2008) 0.88
Nuclear speckles are involved in nuclear aggregation of PABPN1 and in the pathophysiology of oculopharyngeal muscular dystrophy. Neurobiol Dis (2012) 0.87
Structure and function of mRNA export adaptors. Biochem Soc Trans (2010) 0.86
Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener (2013) 0.85
C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles. Neurology (2013) 0.84