Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity

The Caenorhabditis elegans Ortholog of TDP-43 Regulates the Chromatin Localization of the Heterochromatin Protein 1 Homolog HPL-2

(2018) Tassa K. Saldi et al.   MOLECULAR AND CELLULAR BIOLOGY

CRISPR–Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity

(2018) Nicholas J. Kramer et al.   NATURE GENETICS

Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

(2018) Yong-Jie Zhang et al.   NATURE MEDICINE

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

(2018) Yingxiao Shi et al.   NATURE MEDICINE

Dipeptide repeat proteins activate a heat shock response found in C9ORF72-ALS/FTLD patients

(2018) Daniel A. Mordes et al.   Acta Neuropathologica Communications

Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients

(2017) Mercedes Prudencio et al.   HUMAN MOLECULAR GENETICS

Phase Separation of C9orf72 Dipeptide Repeats Perturbs Stress Granule Dynamics

(2017) Steven Boeynaems et al.   MOLECULAR CELL

Phase separation drives heterochromatin domain formation

(2017) Amy R. Strom et al.   NATURE

Liquid droplet formation by HP1α suggests a role for phase separation in heterochromatin

(2017) Adam G. Larson et al.   NATURE

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

Retrotransposon activation contributes to neurodegeneration in a Drosophila TDP-43 model of ALS

(2017) Lisa Krug et al.   PLoS Genetics

Scalable Production of iPSC-Derived Human Neurons to Identify Tau-Lowering Compounds by High-Content Screening

(2017) Chao Wang et al.   Stem Cell Reports

Timing and significance of pathological features inC9orf72expansion-associated frontotemporal dementia

(2016) Sarat C. Vatsavayai et al.   BRAIN

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

(2016) Kyung-Ha Lee et al.   CELL

Lamin Dysfunction Mediates Neurodegeneration in Tauopathies

(2016) Bess Frost et al.   CURRENT BIOLOGY

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death

(2016) Chantal Sellier et al.   EMBO JOURNAL

The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy

(2016) Christopher P Webster et al.   EMBO JOURNAL

Poly-dipeptides encoded by the C9ORF72 repeats block global protein translation

(2016) Kohsuke Kanekura et al.   HUMAN MOLECULAR GENETICS

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

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

C9orf72 is required for proper macrophage and microglial function in mice

(2016) J. G. ORourke et al.   SCIENCE

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

(2016) Aaron Burberry et al.   Science Translational Medicine

Compact and highly active next-generation libraries for CRISPR-mediated gene repression and activation

(2016) Max A Horlbeck et al.   eLife

A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy

(2016) M. Yang et al.   Science Advances

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

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

Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity

(2015) Zhouteng Tao et al.   HUMAN MOLECULAR GENETICS

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

Constitutive heterochromatin formation and transcription in mammals

(2015) Nehmé Saksouk et al.   Epigenetics & Chromatin

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

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

Transcriptional landscape of repetitive elements in normal and cancer human cells

(2014) Steven W Criscione et al.   BMC GENOMICS

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

(2014) Johnathan Cooper-Knock et al.   BRAIN

Genome-Scale CRISPR-Mediated Control of Gene Repression and Activation

(2014) Luke A. Gilbert et al.   CELL

TDP‐1, theCaenorhabditis elegansortholog of TDP‐43, limits the accumulation of double‐stranded RNA

(2014) Tassa K Saldi et al.   EMBO JOURNAL

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

HP1a: a structural chromosomal protein regulating transcription

(2014) Joel C. Eissenberg et al.   TRENDS IN GENETICS

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

CRISPR-Mediated Modular RNA-Guided Regulation of Transcription in Eukaryotes

(2013) Luke A. Gilbert et al.   CELL

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

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

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

The changing faces of HP1: From heterochromatin formation and gene silencing to euchromatic gene expression

(2011) So Hee Kwon et al.   BIOESSAYS

Retrotransposon activation contributes to fragile X premutation rCGG-mediated neurodegeneration

(2011) H. Tan 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

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

(2009) Ben Langmead et al.   GENOME BIOLOGY

Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin

(2008) T. Dechat et al.   GENES & DEVELOPMENT