Published in Neuron on September 23, 2015
Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs. Neuron (2016) 1.35
Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD. Sci Rep (2016) 0.93
The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway. Acta Neuropathol Commun (2016) 0.91
There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS. Brain Res (2016) 0.85
The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease. Nat Rev Neurosci (2016) 0.84
Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons. Neuron (2016) 0.81
GGGGCC microsatellite RNA is neuritically localized, induces branching defects, and perturbs transport granule function. Elife (2015) 0.81
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From animal models to human disease: a genetic approach for personalized medicine in ALS. Acta Neuropathol Commun (2016) 0.80
Reduced hnRNPA3 increases C9orf72 repeat RNA levels and dipeptide-repeat protein deposition. EMBO Rep (2016) 0.80
Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD. Acta Neuropathol Commun (2016) 0.78
Inside out: the role of nucleocytoplasmic transport in ALS and FTLD. Acta Neuropathol (2016) 0.77
Distinct C9orf72-Associated Dipeptide Repeat Structures Correlate with Neuronal Toxicity. PLoS One (2016) 0.76
Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene. Neurosci Lett (2016) 0.76
In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers. Acta Neuropathol (2017) 0.75
The Proline/Arginine Dipeptide from Hexanucleotide Repeat Expanded C9ORF72 Inhibits the Proteasome. eNeuro (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
Nucleocytoplasmic transport in C9orf72-mediated ALS/FTD. Nucleus (2016) 0.75
Antibodies inhibit transmission and aggregation of C9orf72 poly-GA dipeptide repeat proteins. EMBO Mol Med (2017) 0.75
Drosophila melanogaster As a Model Organism to Study RNA Toxicity of Repeat Expansion-Associated Neurodegenerative and Neuromuscular Diseases. Front Cell Neurosci (2017) 0.75
Cytoplasmic poly-GA aggregates impair nuclear import of TDP-43 in C9orf72 ALS/FTLD. Hum Mol Genet (2016) 0.75
Suppression of C9orf72 RNA repeat-induced neurotoxicity by the ALS-associated RNA-binding protein Zfp106. Elife (2017) 0.75
SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits. Nat Commun (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
Dysregulated molecular pathways in amyotrophic lateral sclerosis-frontotemporal dementia spectrum disorder. EMBO J (2017) 0.75
Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss. Acta Neuropathol (2017) 0.75
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
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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
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Site-specific transformation of Drosophila via phiC31 integrase-mediated cassette exchange. Genetics (2006) 3.94
C9orf72 nucleotide repeat structures initiate molecular cascades of disease. Nature (2014) 3.59
RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron (2013) 3.25
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
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins. Science (2014) 2.78
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Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells. Science (2014) 2.43
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
Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons. Acta Neuropathol (2013) 2.26
Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits. Science (2015) 2.06
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
Translational control by changes in poly(A) tail length: recycling mRNAs. Nat Struct Mol Biol (2012) 1.89
Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death. Neuron (2014) 1.65
Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress. Acta Neuropathol (2014) 1.54
Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood. Acta Neuropathol (2013) 1.52
C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration. Acta Neuropathol (2014) 1.48
Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion. Neurobiol Aging (2014) 1.46
BTB/POZ-zinc finger protein abrupt suppresses dendritic branching in a neuronal subtype-specific and dosage-dependent manner. Neuron (2004) 1.41
Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS. Neuron (2014) 1.37
Methods to assay Drosophila behavior. J Vis Exp (2012) 1.33
Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity. Hum Mol Genet (2015) 1.10
Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders. Curr Opin Genet Dev (2014) 1.06
Spt4 is selectively required for transcription of extended trinucleotide repeats. Cell (2012) 0.98
Lives that introns lead after splicing. Wiley Interdiscip Rev RNA (2013) 0.92
FTD/ALS-associated poly(GR) protein impairs the Notch pathway and is recruited by poly(GA) into cytoplasmic inclusions. Acta Neuropathol (2015) 0.92
RNA-protein interactions in unstable microsatellite diseases. Brain Res (2014) 0.89
Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons. Acta Neuropathol (2013) 2.26
High-resolution mapping of chromatin packaging in mouse embryonic stem cells and sperm. Dev Cell (2014) 1.44
Induced pluripotent stem cell models of progranulin-deficient frontotemporal dementia uncover specific reversible neuronal defects. Cell Rep (2012) 1.16
Pitfalls of mapping high-throughput sequencing data to repetitive sequences: Piwi's genomic targets still not identified. Dev Cell (2015) 0.90
The RNase PARN-1 Trims piRNA 3' Ends to Promote Transcriptome Surveillance in C. elegans. Cell (2016) 0.87
Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons. Neuron (2016) 0.81
Tailor: a computational framework for detecting non-templated tailing of small silencing RNAs. Nucleic Acids Res (2015) 0.78
A generalized framework for computational design and mutational scanning of T-cell receptor binding interfaces. Protein Eng Des Sel (2016) 0.78
MMP-9 and MMP-2 Contribute to Neuronal Cell Death in iPSC Models of Frontotemporal Dementia with MAPT Mutations. Stem Cell Reports (2016) 0.76
Microsatellite Expansion Diseases: Repeat Toxicity Found in Translation. Neuron (2017) 0.75
IRaPPA: Information retrieval based integration of biophysical models for protein assembly selection. Bioinformatics (2017) 0.75
A Drosophila model of ALS reveals a partial loss of function of causative human PFN1 mutants. Hum Mol Genet (2017) 0.75
C9orf72 poly GA RAN-translated protein plays a key role in Amyotrophic Lateral Sclerosis via aggregation and toxicity. Hum Mol Genet (2017) 0.75