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

Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders

(2020) Manon Boivin et al.   EMBO JOURNAL

Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers

(2020) Jazmyne L. Jackson et al.   Molecular Neurodegeneration

Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins

(2020) Masin Abo-Rady et al.   Stem Cell Reports

Type I interferon response drives neuroinflammation and synapse loss in Alzheimer disease

(2020) Ethan R. Roy et al.   JOURNAL OF CLINICAL INVESTIGATION

C9orf72 suppresses systemic and neural inflammation induced by gut bacteria

(2020) Aaron Burberry et al.   NATURE

Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72

(2020) Qiang Zhu et al.   NATURE NEUROSCIENCE

C9orf72 in myeloid cells suppresses STING-induced inflammation

(2020) Madelyn E. McCauley et al.   NATURE

Neurotoxic microglia promote TDP-43 proteinopathy in progranulin deficiency

(2020) Jiasheng Zhang et al.   NATURE

Heterozygous Tbk1 loss has opposing effects in early and late stages of ALS in mice

(2019) David Brenner et al.   JOURNAL OF EXPERIMENTAL MEDICINE

The ALS-FTD-linked gene product, C9orf72, regulates neuronal morphogenesis via autophagy

(2019) Wan Yun Ho et al.   Autophagy

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

Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels

(2019) Shangxi Xiao et al.   Acta Neuropathologica Communications

High-Dimensional Single-Cell Mapping of Central Nervous System Immune Cells Reveals Distinct Myeloid Subsets in Health, Aging, and Disease

(2018) Dunja Mrdjen et al.   IMMUNITY

Microglia-mediated synaptic elimination in neuronal development and disease

(2018) Brendan S. Whitelaw   JOURNAL OF NEUROPHYSIOLOGY

TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD

(2018) Matthew A. White et al.   NATURE NEUROSCIENCE

Elevated TREM2 Gene Dosage Reprograms Microglia Responsivity and Ameliorates Pathological Phenotypes in Alzheimer’s Disease Models

(2018) C.Y. Daniel Lee et al.   NEURON

The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2018 update

(2018) Enis Afgan et al.   NUCLEIC ACIDS RESEARCH

Diverse Brain Myeloid Expression Profiles Reveal Distinct Microglial Activation States and Aspects of Alzheimer’s Disease Not Evident in Mouse Models

(2018) Brad A. Friedman et al.   Cell Reports

The C9ORF72 gene, implicated in ALS/FTD, encodes a protein that functions in control of endothelin and glutamate signaling

(2018) Vitalay Fomin et al.   MOLECULAR AND CELLULAR BIOLOGY

TREM2 — a key player in microglial biology and Alzheimer disease

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

New Antibody-Free Mass Spectrometry-Based Quantification Reveals That C9ORF72 Long Protein Isoform Is Reduced in the Frontal Cortex of Hexanucleotide-Repeat Expansion Carriers

(2018) Arthur Viodé et al.   Frontiers in Neuroscience

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

(2018) Timothy R. Hammond et al.   IMMUNITY

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

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

The TREM2-APOE Pathway Drives the Transcriptional Phenotype of Dysfunctional Microglia in Neurodegenerative Diseases

(2017) Susanne Krasemann et al.   IMMUNITY

Cell-specific deletion of C1qa identifies microglia as the dominant source of C1q in mouse brain

(2017) Maria I. Fonseca et al.   Journal of Neuroinflammation

TDP-43 Depletion in Microglia Promotes Amyloid Clearance but Also Induces Synapse Loss

(2017) Rosa C. Paolicelli et al.   NEURON

Cell-type specific differences in promoter activity of the ALS-linked C9orf72 mouse ortholog

(2017) Abraham J. Langseth et al.   Scientific Reports

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

(2017) Hansruedi Mathys et al.   Cell Reports

The Enigmatic Role of C9ORF72 in Autophagy

(2017) Melissa Nassif et al.   Frontiers in Neuroscience

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

There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS

(2016) Aaron D. Gitler et al.   BRAIN RESEARCH

Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation

(2016) Hansen Lui et al.   CELL

Lost & found: C9ORF72 and the autophagy pathway in ALS/FTD

(2016) Sandra Almeida et al.   EMBO JOURNAL

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

The adaptive immune system restrains Alzheimer’s disease pathogenesis by modulating microglial function

(2016) Samuel E. Marsh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Complement and microglia mediate early synapse loss in Alzheimer mouse models

(2016) S. Hong et al.   SCIENCE

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 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers

(2016) Patrizia Rizzu et al.   Acta Neuropathologica Communications

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

(2016) Amanda Atanasio et al.   Scientific Reports

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

(2015) Max Koppers et al.   ANNALS OF NEUROLOGY

TREM2 Lipid Sensing Sustains the Microglial Response in an Alzheimer’s Disease Model

(2015) Yaming Wang et al.   CELL

Neuroinflammation in Alzheimer's disease

(2015) Michael T Heneka et al.   LANCET NEUROLOGY

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

Breaking immune tolerance by targeting Foxp3+ regulatory T cells mitigates Alzheimer’s disease pathology

(2015) Kuti Baruch et al.   Nature Communications

An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex

(2014) Y. Zhang et al.   JOURNAL OF NEUROSCIENCE

Altered microglial response to Aβ plaques in APPPS1-21 mice heterozygous for TREM2

(2014) Jason D Ulrich et al.   Molecular Neurodegeneration

Progranulin protects against amyloid β deposition and toxicity in Alzheimer's disease mouse models

(2014) S Sakura Minami et al.   NATURE MEDICINE

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

(2013) Ian R. Mackenzie et al.   ACTA NEUROPATHOLOGICA

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

C9ORF72Intermediate Repeat Copies Are a Significant Risk Factor for Parkinson Disease

(2013) Karen Nuytemans et al.   ANNALS OF HUMAN GENETICS

A Dramatic Increase of C1q Protein in the CNS during Normal Aging

(2013) A. H. Stephan et al.   JOURNAL OF NEUROSCIENCE

Dissociation of Frontotemporal Dementia-Related Deficits and Neuroinflammation in Progranulin Haploinsufficient Mice

(2013) A. J. Filiano et al.   JOURNAL OF NEUROSCIENCE

Neuron loss in the 5XFAD mouse model of Alzheimer’s disease correlates with intraneuronal Aβ42 accumulation and Caspase-3 activation

(2013) William A Eimer et al.   Molecular Neurodegeneration

The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD

(2013) Naoki Suzuki et al.   NATURE NEUROSCIENCE

C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment

(2013) Rita Cacace et al.   NEUROBIOLOGY OF AGING

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

(2013) D. J. Hensman Moss et al.   NEUROLOGY

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

(2013) Daehwan Kim et al.   GENOME BIOLOGY

C9orf72 Hexanucleotide Repeat Expansions in Clinical Alzheimer Disease

(2013) Matthew Harms et al.   JAMA Neurology

Corticobasal and ataxia syndromes widen the spectrum ofC9ORF72hexanucleotide expansion disease

(2012) SG Lindquist et al.   CLINICAL GENETICS

Psychosis,C9ORF72and dementia with Lewy bodies: Table 1

(2012) Julie S Snowden et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Microglia Sculpt Postnatal Neural Circuits in an Activity and Complement-Dependent Manner

(2012) Dorothy P. Schafer et al.   NEURON

Repeat Expansion inC9ORF72in Alzheimer's Disease

(2012) Elisa Majounie et al.   NEW ENGLAND JOURNAL OF MEDICINE

Microglial Activation Correlates with Disease Progression and Upper Motor Neuron Clinical Symptoms in Amyotrophic Lateral Sclerosis

(2012) Johannes Brettschneider et al.   PLoS One

Synaptic dysfunction in progranulin-deficient mice

(2011) Terri L. Petkau 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

Is My Network Module Preserved and Reproducible?

(2011) Peter Langfelder et al.   PLoS Computational Biology

Manipulation of FASTQ data with Galaxy

(2010) D. Blankenberg et al.   BIOINFORMATICS

Mouse models of dominant optic atrophy: What do they tell us about the pathophysiology of visual loss?

(2010) P.A. Williams et al.   VISION RESEARCH

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members

(2009) N. Finch et al.   BRAIN

DNA prime–protein boost increased the titer, avidity and persistence of anti-Aβ antibodies in wild-type mice

(2009) H Davtyan et al.   GENE THERAPY

WGCNA: an R package for weighted correlation network analysis

(2008) Peter Langfelder et al.   BMC BIOINFORMATICS

Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease

(2008) N. Brouwers et al.   NEUROLOGY

Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration

(2008) R. Ghidoni et al.   NEUROLOGY