Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers
Published 2015 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers
Authors
Keywords
Antisense Transcript, Motor Neuron Disease, Lower Motor Neuron, Dystrophic Neurites, Neuronal Cytoplasmic Inclusion
Journal
ACTA NEUROPATHOLOGICA
Volume 130, Issue 6, Pages 845-861
Publisher
Springer Nature
Online
2015-09-15
DOI
10.1007/s00401-015-1476-2
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- 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
- Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity
- (2015) Zhouteng Tao et al. HUMAN MOLECULAR GENETICS
- 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
- Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress
- (2014) Yong-Jie Zhang 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
- C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia
- (2014) Sarah Mizielinska et al. CURRENT OPINION IN NEUROLOGY
- 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
- RAN translation and frameshifting as translational challenges at simple repeats of human neurodegenerative disorders
- (2014) Marzena Wojciechowska et al. NUCLEIC ACIDS RESEARCH
- 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
- 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
- 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
- Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS
- (2013) Peter E.A. Ash et al. NEURON
- 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
- 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
- Frontotemporal lobar degeneration and amyotrophic lateral sclerosis: Molecular similarities and differences
- (2013) M. Neumann REVUE NEUROLOGIQUE
- The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS
- (2013) K. Mori et al. SCIENCE
- 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
- 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 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
- Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72
- (2011) Melissa E. Murray et al. ACTA NEUROPATHOLOGICA
- Amyloid deposits: Protection against toxic protein species?
- (2011) Sebastian Treusch et al. CELL CYCLE
- 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
- An MND/ALS phenotype associated withC9orf72repeat expansion: Abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline
- (2011) Claire Troakes et al. NEUROPATHOLOGY
- TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia
- (2010) Ian RA Mackenzie et al. LANCET NEUROLOGY
- Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies
- (2009) Manuela Neumann et al. ACTA NEUROPATHOLOGICA
Publish 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 MoreAdd 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 Now