Pathogenesis underlying hexanucleotide repeat expansions in C9orf72 gene in amyotrophic lateral sclerosis

c-Jun N-Terminal Kinase Promotes Stress Granule Assembly and Neurodegeneration in C9orf72-Mediated ALS and FTD

(2023) Talanjeri Gopalakrishna Sahana et al.   JOURNAL OF NEUROSCIENCE

Amyotrophic lateral sclerosis: translating genetic discoveries into therapies

(2023) Fulya Akçimen et al.   NATURE REVIEWS GENETICS

DNA-initiated epigenetic cascades driven by C9orf72 hexanucleotide repeat

(2023) Yang Liu et al.   NEURON

Negative regulation of TREM2-mediated C9orf72 poly-GA clearance by the NLRP3 inflammasome

(2023) Xiaoqiu Shu et al.   Cell Reports

Loss of C9orf72 perturbs the Ran-GTPase gradient and nucleocytoplasmic transport, generating compositionally diverse Importin β-1 granules

(2023) Philip McGoldrick et al.   Cell Reports

Cumulative Genetic Score andC9orf72Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies

(2023) John Dou et al.   Neurology-Genetics

Clinical and genetic features of amyotrophic lateral sclerosis patients with C9orf72 mutations

(2023) Maximilian Wiesenfarth et al.   Brain Communications

Molecular determinants and modifiers of Matrin-3 toxicity, condensate dynamics, and droplet morphology

(2022) Macy L. Sprunger et al.   iScience

Poly-dipeptides produced from C9orf72 hexanucleotide repeats cause selective motor neuron hyperexcitability in ALS

(2022) Yunhee Jo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

HNRNPK alleviates RNA toxicity by counteracting DNA damage in C9orf72 ALS

(2022) Elke Braems et al.   ACTA NEUROPATHOLOGICA

Poly(ADP-ribose) promotes toxicity of C9ORF72 arginine-rich dipeptide repeat proteins

(2022) Junli Gao et al.   Science Translational Medicine

Dipeptide Repeat Pathology in C9orf72-ALS Is Associated with Redox, Mitochondrial and NRF2 Pathway Imbalance

(2022) José Jiménez-Villegas et al.   Antioxidants

C9orf72 ALS-FTD: recent evidence for dysregulation of the autophagy-lysosome pathway at multiple levels

(2021) Jimmy Beckers et al.   Autophagy

C9ORF72: What It Is, What It Does, and Why It Matters

(2021) Julie Smeyers et al.   Frontiers in Cellular Neuroscience

The Different Faces of the TDP-43 Low-Complexity Domain: The Formation of Liquid Droplets and Amyloid Fibrils

(2021) Hung-Ming Chien et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Proline‐arginine poly‐dipeptide encoded by the C9orf72 repeat expansion inhibits adenosine deaminase acting on RNA

(2021) Hiroaki Suzuki et al.   JOURNAL OF NEUROCHEMISTRY

C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation

(2021) Deepti Lall et al.   NEURON

Reduction of oxidative stress suppresses poly-GR-mediated toxicity in zebrafish embryos

(2021) Fréderike W. Riemslagh et al.   Disease Models & Mechanisms

Axonal TDP-43 condensates drive neuromuscular junction disruption through inhibition of local synthesis of nuclear encoded mitochondrial proteins

(2021) Topaz Altman et al.   Nature Communications

C9orf72 associates with inactive Rag GTPases and regulates mTORC1‐mediated autophagosomal and lysosomal biogenesis

(2020) Mingmei Wang et al.   AGING CELL

Synaptic dysfunction induced by glycine‐alanine dipeptides in C9orf72‐ ALS / FTD is rescued by SV 2 replenishment

(2020) Brigid K Jensen et al.   EMBO Molecular Medicine

Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis

(2020) Emily P McCann et al.   JOURNAL OF MEDICAL GENETICS

Congenic expression of poly-GA but not poly-PR in mice triggers selective neuron loss and interferon responses found in C9orf72 ALS

(2020) Katherine D. LaClair et al.   ACTA NEUROPATHOLOGICA

The C9orf72-SMCR8-WDR41 complex is a GAP for small GTPases

(2020) Dan Tang et al.   Autophagy

Ablation of C9orf72 together with excitotoxicity induces ALS in rats

(2020) Wei Dong et al.   FEBS Journal

C9orf72 arginine-rich dipeptide repeats inhibit UPF1-mediated RNA decay via translational repression

(2020) Yu Sun et al.   Nature Communications

C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD?

(2020) Elke Braems et al.   ACTA NEUROPATHOLOGICA

Structure of the C9orf72 ARF GAP complex that is haploinsufficient in ALS and FTD

(2020) Ming-Yuan Su et al.   NATURE

C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy

(2020) Casey N. Cook et al.   Science Translational Medicine

Cellular and physiological functions of C9ORF72 and implications for ALS/FTD

(2020) Weilun Pang et al.   JOURNAL OF NEUROCHEMISTRY

C9orf72 and the Care of the Patient With ALS or FTD

(2020) Jennifer Roggenbuck   Neurology-Genetics

Disrupted neuronal trafficking in amyotrophic lateral sclerosis

(2019) Katja Burk et al.   ACTA NEUROPATHOLOGICA

Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients

(2019) Priyam Narain et al.   NEUROGENETICS

PQLC2 recruits the C9orf72 complex to lysosomes in response to cationic amino acid starvation

(2019) Joseph Amick et al.   JOURNAL OF CELL BIOLOGY

Matrin 3 Is a Component of Neuronal Cytoplasmic Inclusions of Motor Neurons in Sporadic Amyotrophic Lateral Sclerosis

(2018) Mikiko Tada et al.   AMERICAN JOURNAL OF PATHOLOGY

Stress Granule Assembly Disrupts Nucleocytoplasmic Transport

(2018) Ke Zhang et al.   CELL

The C9orf72-interacting protein Smcr8 is a negative regulator of autoimmunity and lysosomal exocytosis

(2018) Yingying Zhang et al.   GENES & DEVELOPMENT

C9ORF72 dipeptide repeat poly-GA inclusions promote intracellular aggregation of phosphorylated TDP-43

(2018) Takashi Nonaka et al.   HUMAN MOLECULAR GENETICS

C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity

(2018) Bhuvaneish T. Selvaraj et al.   Nature Communications

A complex of C9ORF72 and p62 uses arginine methylation to eliminate stress granules by autophagy

(2018) Maneka Chitiprolu et al.   Nature Communications

C9orf72-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

TREM2 — a key player in microglial biology and Alzheimer disease

(2018) Tyler K. Ulland et al.   Nature Reviews Neurology

Axonal G3BP1 stress granule protein limits axonal mRNA translation and nerve regeneration

(2018) Pabitra K. Sahoo et al.   Nature Communications

C9orf72, a protein associated with amyotrophic lateral sclerosis (ALS) is a guanine nucleotide exchange factor

(2018) Shalini Iyer et al.   PeerJ

Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

(2017) Zhang-Yu Zou et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Matrin 3 variants are frequent in Italian ALS patients

(2017) Giuseppe Marangi et al.   NEUROBIOLOGY OF AGING

RNA Misprocessing in C9orf72-Linked Neurodegeneration

(2017) Holly V. Barker et al.   Frontiers in Cellular Neuroscience

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

The Role of Dipeptide Repeats in C9ORF72-Related ALS-FTD

(2017) Brian D. Freibaum et al.   Frontiers in Molecular Neuroscience

Unraveling the Role of RNA Mediated Toxicity of C9orf72 Repeats in C9-FTD/ALS

(2017) Vijay Kumar et al.   Frontiers in Neuroscience

Rag GTPase in amino acid signaling

(2016) Joungmok Kim et al.   AMINO ACIDS

C9orf72 isoforms in Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration

(2016) Shangxi Xiao et al.   BRAIN RESEARCH

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

Cytoplasmic poly-GA aggregates impair nuclear import of TDP-43 in C9orf72 ALS/FTLD

(2016) Bahram Khosravi et al.   HUMAN MOLECULAR GENETICS

C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling

(2016) Joseph Amick et al.   MOLECULAR BIOLOGY OF THE CELL

C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons

(2016) Rajeeve Sivadasan et al.   NATURE NEUROSCIENCE

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

(2016) Claire S. Leblond et al.   NEUROBIOLOGY OF AGING

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

C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Demen

(2016) Ruxandra Dafinca et al.   STEM CELLS

Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling

(2016) Janet Ugolino et al.   PLoS Genetics

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

Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis

(2015) Shangxi Xiao et al.   ANNALS OF NEUROLOGY

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

(2015) I Gijselinck et al.   MOLECULAR PSYCHIATRY

Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis

(2015) Kon-Ping Lin et al.   NEUROBIOLOGY OF AGING

C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

(2015) J. Chew et al.   SCIENCE

C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration

(2014) Stephanie May et al.   ACTA NEUROPATHOLOGICA

C9orf72; abnormal RNA expression is the key

(2014) Peter Heutink et al.   EXPERIMENTAL NEUROLOGY

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

(2014) Manal A. Farg et al.   HUMAN MOLECULAR GENETICS

Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species

(2014) E. L. Scotter et al.   JOURNAL OF CELL SCIENCE

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

(2014) Janel O Johnson et al.   NATURE NEUROSCIENCE

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

(2013) Pietro Fratta 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

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

(2013) Timothy P. Levine et al.   BIOINFORMATICS

Rab11 facilitates cross-talk between autophagy and endosomal pathway through regulation of Hook localization

(2013) Zsuzsanna Szatmári et al.   MOLECULAR BIOLOGY OF THE CELL

RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention

(2013) Christopher J. Donnelly et al.   NEURON

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

Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia

(2013) Marka van Blitterswijk et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Autophagy and Autoimmunity Crosstalks

(2013) Abhisek Bhattacharya et al.   Frontiers in Immunology

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

(2012) A. Chio et al.   BRAIN

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

(2012) Javier Simón-Sánchez et al.   BRAIN

Homozygous SMN2 deletion is a protective factor in the Swedish ALS population

(2012) Philippe Corcia et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

TBC1D14 regulates autophagosome formation via Rab11- and ULK1-positive recycling endosomes

(2012) Andrea Longatti et al.   JOURNAL OF CELL BIOLOGY

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

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

(2012) Nicola J. Rutherford et al.   NEUROBIOLOGY OF AGING

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

Functions and Regulation of RNA Editing by ADAR Deaminases

(2010) Kazuko Nishikura   Annual Review of Biochemistry

Signaling to Nuclear Transport

(2008) Paul R. Clarke   DEVELOPMENTAL CELL

TDP-43 regulates retinoblastoma protein phosphorylation through the repression of cyclin-dependent kinase 6 expression

(2008) Y. M. Ayala et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA