Sense and antisense RNA are not toxic in Drosophila models of C9orf72-associated ALS/FTD

RNA phase transitions in repeat expansion disorders

(2017) Ankur Jain et al.   NATURE

Major hnRNP proteins act as general TDP-43 functional modifiers both in Drosophila and human neuronal cells

(2017) Chiara Appocher et al.   NUCLEIC ACIDS RESEARCH

SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits

(2017) Guillaume M. Hautbergue et al.   Nature Communications

Suppression of C9orf72 RNA repeat-induced neurotoxicity by the ALS-associated RNA-binding protein Zfp106

(2017) Barbara Celona et al.   eLife

Full ablation of C9orf72 in mice causes immune system-related pathology and neoplastic events but no motor neuron defects

(2016) Emma Sudria-Lopez et al.   ACTA NEUROPATHOLOGICA

Increased Glucose Transport into Neurons Rescues Aβ Toxicity in Drosophila

(2016) Teresa Niccoli et al.   CURRENT BIOLOGY

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

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

C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD

(2016) Yuanjing Liu et al.   NEURON

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

(2016) Jie Jiang et al.   NEURON

Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease

(2016) Aaron Burberry et al.   Science Translational Medicine

Lithium Promotes Longevity through GSK3/NRF2-Dependent Hormesis

(2016) Jorge Iván Castillo-Quan et al.   Cell Reports

The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains

(2016) Erin G Conlon et al.   eLife

The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway

(2016) Peter M. Sullivan et al.   Acta Neuropathologica Communications

Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD

(2016) Steven Boeynaems et al.   Scientific Reports

C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production and glomerulonephropathy in mice

(2016) Amanda Atanasio et al.   Scientific Reports

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

C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

(2015) Max Koppers et al.   ANNALS OF NEUROLOGY

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis

(2015) Jonathan D Rohrer et al.   LANCET NEUROLOGY

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

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS

(2015) Ana Jovičić et al.   NATURE NEUROSCIENCE

Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

(2015) Owen M. Peters et al.   NEURON

C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD

(2015) Jacqueline G. O’Rourke et al.   NEURON

Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS

(2015) Helene Tran et al.   NEURON

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

(2015) Alondra Schweizer Burguete et al.   eLife

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

(2014) Johnathan Cooper-Knock et al.   BRAIN

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

A census of human RNA-binding proteins

(2014) Stefanie Gerstberger et al.   NATURE REVIEWS GENETICS

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

C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci

(2013) Sarah Mizielinska 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

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

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

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

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

Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

(2013) Shuo-Chien Ling 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

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

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

Perturbation of the Akt/Gsk3-β signalling pathway is common to Drosophila expressing expanded untranslated CAG, CUG and AUUCU repeat RNAs

(2011) Clare L. van Eyk et al.   HUMAN MOLECULAR GENETICS

Cellular toxicity of expanded RNA repeats: focus on RNA foci

(2011) Marzena Wojciechowska et al.   HUMAN MOLECULAR GENETICS

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

Inhibition of GSK-3 Ameliorates Aβ Pathology in an Adult-Onset Drosophila Model of Alzheimer's Disease

(2010) Oyinkan Sofola et al.   PLoS Genetics

Exploiting position effects and the gypsy retrovirus insulator to engineer precisely expressed transgenes

(2008) Michele Markstein et al.   NATURE GENETICS