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

Inflammatory profiles relate to survival in subtypes of amyotrophic lateral sclerosis

(2020) Mads Nikolaj Olesen et al.   Neurology-Neuroimmunology & Neuroinflammation

Cell‐to‐cell transmission of C9orf72 poly‐(Gly‐Ala) triggers key features of ALS / FTD

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C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1A

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

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Caspase-4 mediates cytoplasmic accumulation of TDP-43 in the primate brains

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C9orf72 Poly(PR) Dipeptide Repeats Disturb Biomolecular Phase Separation and Disrupt Nucleolar Function

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C9ORF72-ALS/FTD-associated poly(GR) binds Atp5a1 and compromises mitochondrial function in vivo

(2019) So Yoen Choi et al.   NATURE NEUROSCIENCE

The Major Risk Factors for Alzheimer’s Disease: Age, Sex, and Genes Modulate the Microglia Response to Aβ Plaques

(2019) Carlo Sala Frigerio et al.   Cell Reports

Motor dysfunction and neurodegeneration in a C9orf72 mouse line expressing poly-PR

(2019) Zongbing Hao et al.   Nature Communications

Dipeptide repeat (DPR) pathology in the skeletal muscle of ALS patients with C9ORF72 repeat expansion

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Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia

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In Situ Structure of Neuronal C9orf72 Poly-GA Aggregates Reveals Proteasome Recruitment

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

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

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Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phase

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Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers

(2018) Petra Frick et al.   Acta Neuropathologica Communications

Single-Cell RNA Sequencing of Microglia throughout the Mouse Lifespan and in the Injured Brain Reveals Complex Cell-State Changes

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Life course body mass index and risk and prognosis of amyotrophic lateral sclerosis: results from the ALS registry Swabia

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Chitotriosidase (CHIT1) is increased in microglia and macrophages in spinal cord of amyotrophic lateral sclerosis and cerebrospinal fluid levels correlate with disease severity and progression

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Phase Separation of C9orf72 Dipeptide Repeats Perturbs Stress Granule Dynamics

(2017) Steven Boeynaems et al.   MOLECULAR CELL

Temporal Tracking of Microglia Activation in Neurodegeneration at Single-Cell Resolution

(2017) Hansruedi Mathys et al.   Cell Reports

Neuron loss and degeneration in the progression of TDP-43 in frontotemporal lobar degeneration

(2017) Ahmed Yousef et al.   Acta Neuropathologica Communications

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

(2016) Kyung-Ha Lee et al.   CELL

An amyloid-like cascade hypothesis for C9orf72 ALS/FTD

(2016) Dieter Edbauer et al.   CURRENT OPINION IN NEUROBIOLOGY

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

(2016) Bahram Khosravi et al.   HUMAN MOLECULAR GENETICS

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

(2016) Yuanjing Liu et al.   NEURON

Branch-Specific Microtubule Destabilization Mediates Axon Branch Loss during Neuromuscular Synapse Elimination

(2016) Monika S. Brill et al.   NEURON

Poly(GR) in C9ORF72 -Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons

(2016) Rodrigo Lopez-Gonzalez 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

Epilepsy and electroencephalographic abnormalities in C9orf72 repeat expansion

(2016) Margherita Capasso et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

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

Role of Immediate-Early Genes in Synaptic Plasticity and Neuronal Ensembles Underlying the Memory Trace

(2016) Keiichiro Minatohara et al.   Frontiers in Molecular Neuroscience

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

(2016) Steven Boeynaems et al.   Scientific Reports

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

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

Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis

(2015) Jonathan D Rohrer et al.   LANCET NEUROLOGY

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

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

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

Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations

(2013) Ian R. Mackenzie 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

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

(2013) Hong Joo Kim et al.   NATURE

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

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

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

The “Dying-Back” Phenomenon of Motor Neurons in ALS

(2010) Michal Dadon-Nachum et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Ex vivo imaging of motor axon dynamics in murine triangularis sterni explants

(2008) Martin Kerschensteiner et al.   Nature Protocols