HR23B pathology preferentially co-localizes with p62, pTDP-43 and poly-GA in C9ORF72-linked frontotemporal dementia and amyotrophic lateral sclerosis

Stress Granule Assembly Disrupts Nucleocytoplasmic Transport

(2018) Ke Zhang et al.   CELL

The cognitive profile of behavioural variant FTD and its similarities with ALS: a systematic review and meta-analysis

(2018) Emma Beeldman et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

(2018) Yingxiao Shi et al.   NATURE MEDICINE

Poly-GR dipeptide repeat polymers correlate with neurodegeneration and Clinicopathological subtypes in C9ORF72-related brain disease

(2018) Nobutaka Sakae et al.   Acta Neuropathologica Communications

C9orf72-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

C9orf72-FTD/ALS pathogenesis: evidence from human neuropathological studies

(2018) Sarat C. Vatsavayai et al.   ACTA NEUROPATHOLOGICA

Increased risk of melanoma in C9ORF72 repeat expansion carriers: A case-control study

(2018) Miguel Tábuas-Pereira et al.   MUSCLE & NERVE

Two mammalian homologs of yeast Rad23, HR23A and HR23B, as multifunctional proteins

(2017) Masayuki Yokoi et al.   GENE

The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis

(2017) Manal A. Farg et al.   HUMAN MOLECULAR GENETICS

C9orf72 expansion disrupts ATM-mediated chromosomal break repair

(2017) Callum Walker et al.   NATURE NEUROSCIENCE

Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene

(2017) Xinmei Wen et al.   NEUROSCIENCE LETTERS

Toxic PRnpoly-dipeptides encoded by theC9orf72repeat expansion block nuclear import and export

(2017) Kevin Y. Shi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Disease Mechanisms of C9ORF72 Repeat Expansions

(2017) Tania F. Gendron et al.   Cold Spring Harbor Perspectives in Medicine

Impaired protein degradation in FTLD and related disorders

(2016) Julia K. Götzl et al.   AGEING RESEARCH REVIEWS

C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles

(2016) Kyung-Ha Lee et al.   CELL

The Glycine-Alanine Dipeptide Repeat from C9orf72 Hexanucleotide Expansions Forms Toxic Amyloids Possessing Cell-to-Cell Transmission Properties

(2016) Yu-Jen Chang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The clinical spectrum of sporadic and familial forms of frontotemporal dementia

(2016) Ione O. C. Woollacott et al.   JOURNAL OF NEUROCHEMISTRY

C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins

(2016) Yong-Jie Zhang et al.   NATURE NEUROSCIENCE

The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease

(2016) Aaron R. Haeusler et al.   NATURE REVIEWS NEUROSCIENCE

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

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

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

(2015) Ahmet Okay Caglayan et al.   European Journal of Medical 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

Loss of RAD-23 Protects Against Models of Motor Neuron Disease by Enhancing Mutant Protein Clearance

(2015) A. M. Jablonski et al.   JOURNAL OF NEUROSCIENCE

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

Review: An update on clinical, genetic and pathological aspects of frontotemporal lobar degenerations

(2015) Tammaryn Lashley et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

GGGGCC microsatellite RNA is neuritically localized, induces branching defects, and perturbs transport granule function

(2015) Alondra Schweizer Burguete et al.   eLife

Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

(2014) Yong-Jie Zhang et al.   ACTA NEUROPATHOLOGICA

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

(2014) Johnathan Cooper-Knock et al.   BRAIN

Understanding nucleotide excision repair and its roles in cancer and ageing

(2014) Jurgen A. Marteijn et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

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

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

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

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

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

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

The association between cancer and amyotrophic lateral sclerosis

(2012) D. Michal Freedman et al.   CANCER CAUSES & CONTROL

Profound downregulation of the RNA editing enzyme ADAR2 in ALS spinal motor neurons

(2011) Takuto Hideyama et al.   NEUROBIOLOGY OF DISEASE

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

Laryngeal cancer risk associated with smoking and alcohol consumption is modified by genetic polymorphisms inERCC5,ERCC6andRAD23Bbut not by polymorphisms in five other nucleotide excision repair genes

(2009) Rashda Abbasi et al.   INTERNATIONAL JOURNAL OF CANCER