The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter
Published 2015 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter
Authors
Keywords
-
Journal
MOLECULAR PSYCHIATRY
Volume 21, Issue 8, Pages 1112-1124
Publisher
Springer Nature
Online
2015-10-20
DOI
10.1038/mp.2015.159
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients
- (2015) Zhengrui Xi et al. ACTA NEUROPATHOLOGICA
- 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
- Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion
- (2015) Pietro Fratta et al. NEUROBIOLOGY OF AGING
- C9orf72 promoter hypermethylation is neuroprotective: Neuroimaging and neuropathologic evidence
- (2015) C. T. McMillan et al. NEUROLOGY
- C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits
- (2015) J. Chew et al. SCIENCE
- Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
- (2015) E. T. Cirulli et al. SCIENCE
- Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD)
- (2015) Serena Lattante et al. TRENDS IN GENETICS
- Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress
- (2014) Yong-Jie Zhang 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
- Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier
- (2014) Jenny Russ et al. ACTA NEUROPATHOLOGICA
- C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD
- (2014) Elaine Y. Liu et al. ACTA NEUROPATHOLOGICA
- TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia
- (2014) Marka van Blitterswijk et al. ACTA NEUROPATHOLOGICA
- 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
- Frontotemporal dementia and its subtypes: a genome-wide association study
- (2014) Raffaele Ferrari et al. LANCET NEUROLOGY
- 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
- Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers
- (2014) Marka van Blitterswijk et al. NEUROBIOLOGY OF AGING
- Identical twins with the C9orf72 repeat expansion are discordant for ALS
- (2014) Z. Xi et al. NEUROLOGY
- Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders
- (2014) S. Lattante et al. NEUROLOGY
- C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins
- (2014) S. Mizielinska et al. SCIENCE
- 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
- Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia
- (2013) O. Dols-Icardo et al. HUMAN MOLECULAR GENETICS
- 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
- Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases
- (2013) Annemarie Hübers et al. NEUROBIOLOGY OF AGING
- 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
- C9ORF72 Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients
- (2013) Carol Dobson-Stone et al. PLoS One
- Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans
- (2013) Martine Therrien et al. PLoS One
- 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
- 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
- Distinct Clinical Characteristics of C9orf72 Expansion Carriers Compared With GRN, MAPT, and Nonmutation Carriers in a Flanders-Belgian FTLD Cohort
- (2013) Tim Van Langenhove et al. JAMA Neurology
- Promoter DNA methylation regulates progranulin expression and is altered in FTLD
- (2013) Julia Banzhaf-Strathmann et al. Acta Neuropathologica Communications
- 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
- Investigation of C9orf72 in 4 Neurodegenerative Disorders
- (2012) Zhengrui Xi et al. ARCHIVES OF NEUROLOGY
- C9ORF72 Repeat Expansion in Amyotrophic Lateral Sclerosis in the Kii Peninsula of Japan
- (2012) Hiroyuki Ishiura et al. ARCHIVES OF NEUROLOGY
- 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
- 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
- Analysis of theC9orf72Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide
- (2012) Alberto García-Redondo et al. HUMAN MUTATION
- 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
- C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect
- (2012) Antonia Ratti et al. NEUROBIOLOGY OF AGING
- C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts
- (2012) C. Dobson-Stone 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
- Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion
- (2012) Jamie C Fong et al. Alzheimers Research & Therapy
- A harmonized classification system for FTLD-TDP pathology
- (2011) Ian R. A. Mackenzie et al. ACTA NEUROPATHOLOGICA
- FXN methylation predicts expression and clinical outcome in Friedreich ataxia
- (2011) Marguerite V. Evans-Galea et al. ANNALS OF NEUROLOGY
- Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia
- (2011) Katya Rascovsky et al. BRAIN
- Distinct DNA methylation changes highly correlated with chronological age in the human brain
- (2011) Dena G. Hernandez et al. HUMAN MOLECULAR GENETICS
- Epigenetic Regulation of Motor Neuron Cell Death through DNA Methylation
- (2011) B. A. Chestnut et al. JOURNAL OF 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
- Classification of primary progressive aphasia and its variants
- (2011) M. L. Gorno-Tempini et al. 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
- A genome-wide analysis of brain DNA methylation identifies new candidate genes for sporadic amyotrophic lateral sclerosis
- (2009) Julia M. Morahan et al. Amyotrophic Lateral Sclerosis
- Electrodiagnostic criteria for diagnosis of ALS
- (2008) Mamede de Carvalho et al. CLINICAL NEUROPHYSIOLOGY
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExplorePublish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn More