review article | Q7318358 |
scholarly article | Q13442814 |
P2093 | author name string | Piera Pasinelli | |
Davide Trotti | |||
Thomas Westergard | |||
Xinmei Wen | |||
P2860 | cites work | Full ablation of C9orf72 in mice causes immune system-related pathology and neoplastic events but no motor neuron defects | Q42679243 |
Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS. | Q42693496 | ||
Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS. | Q42925023 | ||
RETRACTED: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD. | Q43072606 | ||
hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations | Q44742682 | ||
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins | Q46797980 | ||
The overlap of amyotrophic lateral sclerosis and frontotemporal dementia | Q46924395 | ||
Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations | Q46986726 | ||
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis. | Q47073323 | ||
Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD. | Q47403937 | ||
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 | Q48791547 | ||
C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD. | Q48794622 | ||
Prevalence and patterns of cognitive impairment in sporadic ALS. | Q51989393 | ||
Frontotemporal dementia. | Q53268278 | ||
Amyotrophic lateral sclerosis | Q55877676 | ||
Survival in two variants of tau-negative frontotemporal lobar degeneration: FTLD-U vs FTLD-MND | Q57306390 | ||
p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS | Q58477808 | ||
C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration | Q63315204 | ||
C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking | Q24337586 | ||
Glycine-alanine repeats impair proper substrate unfolding by the proteasome | Q24543904 | ||
RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention | Q24562489 | ||
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS | Q24608159 | ||
The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs | Q24622048 | ||
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS | Q24633692 | ||
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD | Q24634583 | ||
The unstable repeats--three evolving faces of neurological disease | Q27025923 | ||
Emerging mechanisms of molecular pathology in ALS | Q28081239 | ||
Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death | Q28854599 | ||
Trinucleotide Repeat Disorders | Q29038716 | ||
The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway | Q29465536 | ||
The C9orf72 repeat expansion disrupts nucleocytoplasmic transport. | Q29871482 | ||
Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability | Q30409374 | ||
Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons | Q30543660 | ||
C9orf72 nucleotide repeat structures initiate molecular cascades of disease. | Q33715387 | ||
Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions | Q33784052 | ||
Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion | Q33878156 | ||
Repeat sequence of Epstein-Barr virus-encoded nuclear antigen 1 protein interrupts proteasome substrate processing | Q33974768 | ||
Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress | Q34157304 | ||
C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD. | Q34167443 | ||
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. | Q34326849 | ||
C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration | Q42003533 | ||
CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome | Q42068973 | ||
C9orf72 is required for proper macrophage and microglial function in mice | Q42364302 | ||
C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes | Q42424866 | ||
Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration | Q34336948 | ||
RNA function. Ribosome stalling induced by mutation of a CNS-specific tRNA causes neurodegeneration. | Q34430773 | ||
Nuclear accumulation of mRNAs underlies G4C2-repeat-induced translational repression in a cellular model of C9orf72 ALS. | Q34467825 | ||
Non-ATG-initiated translation directed by microsatellite expansions | Q34471662 | ||
GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport | Q34491033 | ||
Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS. | Q34512451 | ||
Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion | Q34732361 | ||
Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans | Q35070967 | ||
C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis | Q35643260 | ||
Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells | Q35695216 | ||
Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy. | Q35746397 | ||
Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72 | Q35752001 | ||
Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration. | Q35776562 | ||
RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome | Q35821141 | ||
Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study | Q35859698 | ||
Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration | Q35985592 | ||
FTD/ALS-associated poly(GR) protein impairs the Notch pathway and is recruited by poly(GA) into cytoplasmic inclusions | Q36073654 | ||
Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers | Q36073660 | ||
Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing | Q36073675 | ||
C9ORF72 expression and cellular localization over mouse development. | Q36091923 | ||
Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS. | Q36108576 | ||
Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death | Q36246294 | ||
Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72. | Q36304922 | ||
C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD | Q36353773 | ||
Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits | Q36407722 | ||
Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. | Q36498006 | ||
C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits | Q36555249 | ||
GGGGCC microsatellite RNA is neuritically localized, induces branching defects, and perturbs transport granule function | Q36594209 | ||
The Glycine-Alanine Dipeptide Repeat from C9orf72 Hexanucleotide Expansions Forms Toxic Amyloids Possessing Cell-to-Cell Transmission Properties | Q36650259 | ||
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. | Q36666933 | ||
C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice. | Q36691051 | ||
The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures | Q36742244 | ||
Advances in understanding the molecular basis of frontotemporal dementia | Q36775677 | ||
Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice | Q36788842 | ||
The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy | Q36842039 | ||
Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs | Q36880235 | ||
Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene | Q37068280 | ||
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins | Q37094833 | ||
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia. | Q37121525 | ||
C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal | Q37164667 | ||
Poly-dipeptides encoded by the C9ORF72 repeats block global protein translation | Q37178589 | ||
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS | Q37316045 | ||
C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci. | Q37316053 | ||
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration | Q37340843 | ||
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia | Q37409251 | ||
Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study | Q37429235 | ||
C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins | Q37476206 | ||
Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72. | Q37485777 | ||
Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic | Q37503127 | ||
Repeat expansion disease: progress and puzzles in disease pathogenesis | Q37696972 | ||
Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion | Q37706316 | ||
Mechanisms of toxicity in C9FTLD/ALS. | Q37727937 | ||
How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? | Q38060527 | ||
The changing scene of amyotrophic lateral sclerosis | Q38086771 | ||
The neuropathology associated with repeat expansions in the C9ORF72 gene | Q38172839 | ||
Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD. | Q38379408 | ||
The frontotemporal dementias | Q38411190 | ||
Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD). | Q38419478 | ||
Motor neuron dysfunction in frontotemporal dementia. | Q38486371 | ||
Review: an update on clinical, genetic and pathological aspects of frontotemporal lobar degenerations. | Q38514971 | ||
Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9ORF72 hexanucleotide repeat expansion: a systematic neuropathological review | Q38587477 | ||
C9ORF72 Regulates Stress Granule Formation and Its Deficiency Impairs Stress Granule Assembly, Hypersensitizing Cells to Stress | Q38781435 | ||
C9orf72 isoforms in Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration | Q38822599 | ||
Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity | Q38921570 | ||
The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy | Q39662062 | ||
CGG Repeat-Associated Non-AUG Translation Utilizes a Cap-Dependent Scanning Mechanism of Initiation to Produce Toxic Proteins | Q39866921 | ||
Cognitive impairment in familial ALS. | Q40168360 | ||
Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers | Q40535548 | ||
Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis | Q40737530 | ||
Jump from pre-mutation to pathologic expansion in C9orf72. | Q41989331 | ||
P407 | language of work or name | English | Q1860 |
P921 | main subject | amyotrophic lateral sclerosis | Q206901 |
P1104 | number of pages | 11 | |
P304 | page(s) | 16-26 | |
P577 | publication date | 2016-09-13 | |
P1433 | published in | Neuroscience Letters | Q7002625 |
P1476 | title | Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene | |
P478 | volume | 636 |
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