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

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

(2015) Shangxi Xiao et al.   ANNALS OF NEUROLOGY

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

(2015) Max Koppers et al.   ANNALS OF NEUROLOGY

Neuropsychiatric lupus: a mosaic of clinical presentations

(2015) Shaye Kivity et al.   BMC Medicine

Increased frequency of circulating follicular helper T cells in lupus patients is associated with autoantibody production in a CD40L-dependent manner

(2015) Huaheng Xu et al.   CELLULAR IMMUNOLOGY

Drosha Inclusions Are New Components of Dipeptide-Repeat Protein Aggregates in FTLD-TDP and ALSC9orf72Expansion Cases

(2015) Sílvia Porta et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Rare Variants of ATG5 Are Likely to Be Associated With Chinese Patients With Systemic Lupus Erythematosus

(2015) Yue-miao Zhang et al.   MEDICINE

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

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS

(2015) Ana Jovičić et al.   NATURE NEUROSCIENCE

Characterization of DNA G-quadruplex species forming from C9ORF72 G4C2-expanded repeats associated with amyotrophic lateral sclerosis and frontotemporal lobar degeneration

(2015) Primož Šket et al.   NEUROBIOLOGY OF AGING

Gene co-expression analysis unravels a link between C9orf72 and RNA metabolism in myeloid cells

(2015) Serge Nataf et al.   Acta Neuropathologica Communications

Autophagy is activated in systemic lupus erythematosus and required for plasmablast development

(2014) Alexander J Clarke et al.   ANNALS OF THE RHEUMATIC DISEASES

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

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

Autoantibodies involved in neuropsychiatric manifestations associated with systemic lupus erythematosus: a systematic review

(2014) Savino Sciascia et al.   JOURNAL OF NEUROLOGY

Models of β-amyloid induced Tau-pathology: the long and “folded” road to understand the mechanism

(2014) Ilie-Cosmin Stancu et al.   Molecular Neurodegeneration

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

(2013) Kohji Mori 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

Rheumatoid Factors: Clinical Applications

(2013) Francesca Ingegnoli et al.   DISEASE MARKERS

The Disease-associated r(GGGGCC)nRepeat from theC9orf72Gene Forms Tract Length-dependent Uni- and Multimolecular RNA G-quadruplex Structures

(2013) Kaalak Reddy et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2013) Naoki Suzuki et al.   NATURE NEUROSCIENCE

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

(2013) Peter E.A. Ash et al.   NEURON

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

(2013) Martine Therrien et al.   PLoS One

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

Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration

(2013) Z. Xu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

(2013) C. Lagier-Tourenne 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

Role of autophagy in immunity and autoimmunity, with a special focus on systemic lupus erythematosus

(2012) Marina Pierdominici et al.   FASEB JOURNAL

IL-12 family cytokines: immunological playmakers

(2012) Dario A A Vignali et al.   NATURE IMMUNOLOGY

FTD/ALS families are no longer orphaned: The C9ORF72 story

(2012) J. C. van Swieten et al.   NEUROLOGY

A Review for Solitary Plasmacytoma of Bone and Extramedullary Plasmacytoma

(2012) Sevil Kilciksiz et al.   TheScientificWorldJOURNAL

Proliferative and Nonproliferative Lesions of the Rat and Mouse Urinary System

(2012) Kendall S. Frazier et al.   TOXICOLOGIC PATHOLOGY

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

(2012) Pietro Fratta et al.   Scientific Reports

Genetic association of PRDM1-ATG5 intergenic region and autophagy with systemic lupus erythematosus in a Chinese population

(2011) X.-j. Zhou et al.   ANNALS OF THE RHEUMATIC DISEASES

Editorial [Hot Topic:Autoimmune Neurologic Disorders (Guest Editor: Sasa zivkovic)]

(2011) Sasa zivkovic   Current Neuropharmacology

The MRL/lpr Mouse Strain as a Model for Neuropsychiatric Systemic Lupus Erythematosus

(2011) Maria Gulinello et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

Murine Models of Systemic Lupus Erythematosus

(2011) Daniel Perry et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

The Dysregulation of Cytokine Networks in Systemic Lupus Erythematosus

(2011) Sokratis A. Apostolidis et al.   JOURNAL OF INTERFERON AND CYTOKINE RESEARCH

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

Multiple Myeloma

(2011) Antonio Palumbo et al.   NEW ENGLAND JOURNAL OF MEDICINE

Disturbances of apoptotic cell clearance in systemic lupus erythematosus

(2011) Wen-Hai Shao et al.   ARTHRITIS RESEARCH & THERAPY

Activation of Mammalian Target of Rapamycin Controls the Loss of TCR  in Lupus T Cells through HRES-1/Rab4-Regulated Lysosomal Degradation

(2009) D. R. Fernandez et al.   JOURNAL OF IMMUNOLOGY

No Benefit from Chronic Lithium Dosing in a Sibling-Matched, Gender Balanced, Investigator-Blinded Trial Using a Standard Mouse Model of Familial ALS

(2009) Alan Gill et al.   PLoS One

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

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