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

C9orf72 is required for proper macrophage and microglial function in mice

(2016) J. G. ORourke et al.   SCIENCE

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

Exome sequencing uncovers hidden pathways in familial and sporadic ALS

(2015) Conceição Bettencourt et al.   NATURE NEUROSCIENCE

Autoimmune Hemolysis: A Journey through Time

(2015) John Freedman   TRANSFUSION MEDICINE AND HEMOTHERAPY

Regulation of T-cell activation and migration by the kinase TBK1 during neuroinflammation

(2015) Jiayi Yu et al.   Nature Communications

Linking susceptibility genes and pathogenesis mechanisms using mouse models of systemic lupus erythematosus

(2014) S. P. Crampton et al.   Disease Models & Mechanisms

OutKnocker: a web tool for rapid and simple genotyping of designer nuclease edited cell lines

(2014) Jonathan L. Schmid-Burgk et al.   GENOME RESEARCH

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

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

Breaking peripheral immune tolerance to CNS antigens in neurodegenerative diseases: Boosting autoimmunity to fight-off chronic neuroinflammation

(2014) Michal Schwartz et al.   JOURNAL OF AUTOIMMUNITY

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

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

(2013) Timothy P. Levine et al.   BIOINFORMATICS

Immune-mediated Mechanisms in the Pathoprogression of Amyotrophic Lateral Sclerosis

(2013) Weihua Zhao et al.   Journal of Neuroimmune Pharmacology

Pathophysiological insights into ALS with C9ORF72 expansions

(2013) K. L. Williams et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2013) Naoki Suzuki et al.   NATURE NEUROSCIENCE

The changing scene of amyotrophic lateral sclerosis

(2013) Wim Robberecht et al.   NATURE REVIEWS NEUROSCIENCE

Autoimmune disease preceding amyotrophic lateral sclerosis: An epidemiologic study

(2013) M. R. Turner et al.   NEUROLOGY

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

(2013) Christopher J. Donnelly et al.   NEURON

Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans

(2013) Martine Therrien et al.   PLoS One

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

Amyotrophic lateral sclerosis

(2012) Albert C. Ludolph et al.   CURRENT OPINION IN NEUROLOGY

Regulatory T-lymphocytes mediate amyotrophic lateral sclerosis progression and survival

(2012) Jenny S. Henkel et al.   EMBO Molecular Medicine

Linking complement and anti-dsDNA antibodies in the pathogenesis of systemic lupus erythematosus

(2012) Brendan M. Giles et al.   IMMUNOLOGIC RESEARCH

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

(2012) Susan Byrne 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

Interleukin-17 and interleukin-23 are elevated in serum and cerebrospinal fluid of patients with ALS: a reflection of Th17 cells activation?

(2010) M. Rentzos et al.   ACTA NEUROLOGICA SCANDINAVICA

Auto-reconstitution of the T-cell compartment by radioresistant hematopoietic cells following lethal irradiation and bone marrow transplantation

(2010) Nabil Bosco et al.   EXPERIMENTAL HEMATOLOGY

Mice lacking Tbk1 activity exhibit immune cell infiltrates in multiple tissues and increased susceptibility to LPS-induced lethality

(2010) Erica Marchlik et al.   JOURNAL OF LEUKOCYTE BIOLOGY

The Role of Extracellular DNA in Autoimmunity in SLE

(2009) K.-Y. Su et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

The Immunological Genome Project: networks of gene expression in immune cells

(2008) Tracy S P Heng et al.   NATURE IMMUNOLOGY

T lymphocytes potentiate endogenous neuroprotective inflammation in a mouse model of ALS

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

Are the IKKs and IKK-related kinases TBK1 and IKK-ɛ similarly activated?

(2008) Tieu-Lan Chau et al.   TRENDS IN BIOCHEMICAL SCIENCES