- Home
- Publications
- Publication Search
- Publication Details
Title
Disease Mechanisms of
C9ORF72
Repeat Expansions
Authors
Keywords
-
Journal
Cold Spring Harbor Perspectives in Medicine
Volume 8, Issue 4, Pages a024224
Publisher
Cold Spring Harbor Laboratory
Online
2017-01-28
DOI
10.1101/cshperspect.a024224
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- The Genetics of C9orf72 Expansions
- (2017) Ilse Gijselinck et al. Cold Spring Harbor Perspectives in Medicine
- Genetics of Amyotrophic Lateral Sclerosis
- (2017) Mehdi Ghasemi et al. Cold Spring Harbor Perspectives in Medicine
- Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy
- (2015) Johnathan Cooper-Knock et al. ACTA NEUROPATHOLOGICA
- Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers
- (2015) Tania F. Gendron et al. ACTA NEUROPATHOLOGICA
- The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients
- (2015) Zhengrui Xi et al. ACTA NEUROPATHOLOGICA
- Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers
- (2015) Ian R. A. Mackenzie et al. ACTA NEUROPATHOLOGICA
- Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72
- (2015) Marka van Blitterswijk et al. ACTA NEUROPATHOLOGICA
- Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration
- (2015) EunRan Suh et al. ACTA NEUROPATHOLOGICA
- Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing
- (2015) Martin H. Schludi et al. ACTA NEUROPATHOLOGICA
- FTD/ALS-associated poly(GR) protein impairs the Notch pathway and is recruited by poly(GA) into cytoplasmic inclusions
- (2015) Dejun Yang et al. ACTA NEUROPATHOLOGICA
- Jump from Pre-mutation to Pathologic Expansion in C9orf72
- (2015) Zhengrui Xi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis
- (2015) Shangxi Xiao et al. ANNALS OF NEUROLOGY
- C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits
- (2015) Max Koppers et al. ANNALS OF NEUROLOGY
- Moving towards treatments for spinal muscular atrophy: hopes and limits
- (2015) Brunhilde Wirth et al. EXPERT OPINION ON EMERGING DRUGS
- Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD
- (2015) Angelica Nordin et al. HUMAN MOLECULAR GENETICS
- Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity
- (2015) Zhouteng Tao et al. HUMAN MOLECULAR GENETICS
- Nuclear accumulation of mRNAs underlies G4C2-repeat-induced translational repression in a cellular model of C9orf72 ALS
- (2015) S. Rossi et al. JOURNAL OF CELL SCIENCE
- The C9orf72 repeat expansion disrupts nucleocytoplasmic transport
- (2015) Ke Zhang et al. NATURE
- GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport
- (2015) Brian D. Freibaum et al. NATURE
- Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS
- (2015) Mercedes Prudencio et al. NATURE NEUROSCIENCE
- Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS
- (2015) Ana Jovičić et al. NATURE NEUROSCIENCE
- C9orf72 promoter hypermethylation is neuroprotective: Neuroimaging and neuropathologic evidence
- (2015) C. T. McMillan et al. NEUROLOGY
- Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS
- (2015) Helene Tran et al. NEURON
- Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions inC9ORF72gene
- (2015) Atik Baborie et al. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
- RNA-targeted Therapeutics for ALS
- (2015) Linga V. Reddy et al. Neurotherapeutics
- C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits
- (2015) J. Chew et al. SCIENCE
- 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
- (2015) Jorge Gomez-Deza et al. Acta Neuropathologica Communications
- C9ORF72 expression and cellular localization over mouse development
- (2015) Rachel A K Atkinson et al. Acta Neuropathologica Communications
- C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis
- (2015) Johnathan Cooper-Knock et al. PLoS One
- Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability
- (2014) Malcolm Proudfoot et al. ACTA NEUROPATHOLOGICA
- Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress
- (2014) Yong-Jie Zhang et al. ACTA NEUROPATHOLOGICA
- The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype
- (2014) Johnathan Cooper-Knock et al. ACTA NEUROPATHOLOGICA
- Mechanisms of toxicity in C9FTLD/ALS
- (2014) Tania F. Gendron et al. ACTA NEUROPATHOLOGICA
- C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration
- (2014) Stephanie May et al. ACTA NEUROPATHOLOGICA
- C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD
- (2014) Elaine Y. Liu et al. ACTA NEUROPATHOLOGICA
- Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions
- (2014) Johnathan Cooper-Knock et al. BRAIN
- Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients
- (2014) Veronique V. Belzil et al. BRAIN RESEARCH
- Hypermethylation of the CpG-island near the C9orf72 G4C2-repeat expansion in FTLD patients
- (2014) Zhengrui Xi et al. HUMAN MOLECULAR GENETICS
- C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking
- (2014) Manal A. Farg et al. HUMAN MOLECULAR GENETICS
- Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS
- (2014) Mai Yamakawa et al. HUMAN MOLECULAR GENETICS
- C9orf72 nucleotide repeat structures initiate molecular cascades of disease
- (2014) Aaron R. Haeusler et al. NATURE
- 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
- Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS
- (2014) Zhaoming Su et al. NEURON
- Antisense Proline-Arginine RAN Dipeptides Linked to C9ORF72-ALS/FTD Form Toxic Nuclear Aggregates that Initiate In Vitro and In Vivo Neuronal Death
- (2014) Xinmei Wen et al. NEURON
- 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
- RETRACTED ARTICLE: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD
- (2014) Renate K Hukema et al. Acta Neuropathologica Communications
- Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72
- (2014) Yvonne S Davidson et al. Acta Neuropathologica Communications
- The neuropathology associated with repeat expansions in the C9ORF72 gene
- (2013) Ian R. A. Mackenzie et al. ACTA NEUROPATHOLOGICA
- Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations
- (2013) Ian R. Mackenzie et al. ACTA NEUROPATHOLOGICA
- Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
- (2013) Pietro Fratta et al. ACTA NEUROPATHOLOGICA
- 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
- Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
- (2013) Tania F. Gendron 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
- Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons
- (2013) Sandra Almeida 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
- Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population
- (2013) Jon Beck et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs
- (2013) Timothy P. Levine et al. BIOINFORMATICS
- Consensus Paper: The Cerebellum's Role in Movement and Cognition
- (2013) Leonard F. Koziol et al. CEREBELLUM
- Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia
- (2013) O. Dols-Icardo et al. HUMAN MOLECULAR GENETICS
- 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
- TMPyP4 Porphyrin Distorts RNA G-quadruplex Structures of the Disease-associated r(GGGGCC)nRepeat of theC9orf72Gene and Blocks Interaction of RNA-binding Proteins
- (2013) Bita Zamiri et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study
- (2013) Timothy M Miller et al. LANCET NEUROLOGY
- Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study
- (2013) Marka van Blitterswijk et al. LANCET NEUROLOGY
- Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation
- (2013) Vladimir L Buchman et al. Molecular Neurodegeneration
- The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD
- (2013) Naoki Suzuki et al. NATURE NEUROSCIENCE
- 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
- Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans
- (2013) Martine Therrien et al. PLoS One
- 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
- The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS
- (2013) K. Mori 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
- Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum
- (2013) Marc Cruts et al. TRENDS IN NEUROSCIENCES
- 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
- 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
- (2013) David MA Mann et al. Acta Neuropathologica Communications
- Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion
- (2012) Johannes Brettschneider 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
- Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
- (2012) A. Chio et al. BRAIN
- Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p
- (2012) G.-Y. R. Hsiung et al. BRAIN
- Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72
- (2012) Johnathan Cooper-Knock et al. BRAIN
- Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations
- (2012) J. S. Snowden et al. BRAIN
- The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
- (2012) Javier Simón-Sánchez et al. BRAIN
- Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
- (2012) Bradley F. Boeve et al. BRAIN
- Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features
- (2012) C. J. Mahoney et al. BRAIN
- Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics
- (2012) J. L. Whitwell et al. BRAIN
- A Pan-European Study of theC9orf72Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats
- (2012) Julie van der Zee et al. HUMAN MUTATION
- Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study
- (2012) Susan Byrne et al. LANCET NEUROLOGY
- Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
- (2012) Elisa Majounie et al. LANCET NEUROLOGY
- Frontotemporal dementia due to C9ORF72 mutations: Clinical and imaging features
- (2012) S. J. Sha et al. NEUROLOGY
- C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
- (2012) Pietro Fratta et al. Scientific Reports
- 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
- 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
- (2011) Safa Al-Sarraj et al. ACTA NEUROPATHOLOGICA
- Rodent Models of TDP-43 Proteinopathy: Investigating the Mechanisms of TDP-43-Mediated Neurodegeneration
- (2011) Tania F. Gendron et al. JOURNAL OF MOLECULAR NEUROSCIENCE
- 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
- 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
- Role of Rab GTPases in Membrane Traffic and Cell Physiology
- (2011) Alex H. Hutagalung et al. PHYSIOLOGICAL REVIEWS
- 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
- Histone Deacetylases Suppress CGG Repeat–Induced Neurodegeneration Via Transcriptional Silencing in Models of Fragile X Tremor Ataxia Syndrome
- (2010) Peter K. Todd et al. PLoS Genetics
- Mechanisms of cross-talk between the ubiquitin-proteasome and autophagy-lysosome systems
- (2009) Viktor I. Korolchuk et al. FEBS LETTERS
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started