Excessive endosomal TLR signaling causes inflammatory disease in mice with defective SMCR8-WDR41-C9ORF72 complex function

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

(2018) Yingying Zhang et al.   GENES & DEVELOPMENT

HCFC2 is needed for IRF1- and IRF2-dependent Tlr3 transcription and for survival during viral infections

(2017) Lei Sun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Creatine maintains intestinal homeostasis and protects against colitis

(2017) Emre Turer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Patterns, Receptors, and Signals: Regulation of Phagosome Maturation

(2017) Anne-Marie Pauwels et al.   TRENDS IN IMMUNOLOGY

Multiplex image-based autophagy RNAi screening identifies SMCR8 as ULK1 kinase activity and gene expression regulator

(2017) Jennifer Jung et al.   eLife

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

Enteric Viruses Ameliorate Gut Inflammation via Toll-like Receptor 3 and Toll-like Receptor 7-Mediated Interferon-β Production

(2016) Jin-Young Yang et al.   IMMUNITY

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

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

Amyotrophic lateral sclerosis and myasthenia gravis: association or chance occurrence?

(2016) Silvia de Pasqua et al.   NEUROLOGICAL SCIENCES

Myasthenia gravis and amyotrophic lateral sclerosis: A pathogenic overlap

(2016) Håvard Torvik Gotaas et al.   NEUROMUSCULAR DISORDERS

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

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

(2016) Janet Ugolino et al.   PLoS Genetics

A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy

(2016) M. Yang et al.   Science Advances

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

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

(2016) Amanda Atanasio et al.   Scientific Reports

Real-time resolution of point mutations that cause phenovariance in mice

(2015) Tao Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

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

(2013) Timothy P. Levine et al.   BIOINFORMATICS

IL-10 modulates DSS-induced colitis through a macrophage–ROS–NO axis

(2013) B Li et al.   Mucosal Immunology

Autoimmune disease preceding amyotrophic lateral sclerosis: An epidemiologic study

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

TLR9 is important for protection against intestinal damage and for intestinal repair

(2012) William Alfred Rose II et al.   Scientific Reports

Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease

(2012) Dapeng Zhang et al.   Frontiers in Genetics

Endosome maturation

(2011) Jatta Huotari et al.   EMBO JOURNAL

Nucleic acid recognition by Toll-like receptors is coupled to stepwise processing by cathepsins and asparagine endopeptidase

(2011) Sarah E. Ewald et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

Intracellular Toll-like Receptors

(2010) Amanda L. Blasius et al.   IMMUNITY

Principles of lysosomal membrane degradation

(2008) Heike Schulze et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Effect of N-acetylcysteine on the Murine Model of Colitis Induced by Dextran Sodium Sulfate Through Up-Regulating PON1 Activity

(2008) Yu You et al.   DIGESTIVE DISEASES AND SCIENCES

The ectodomain of Toll-like receptor 9 is cleaved to generate a functional receptor

(2008) Sarah E. Ewald et al.   NATURE

Proteolytic cleavage in an endolysosomal compartment is required for activation of Toll-like receptor 9

(2008) Boyoun Park et al.   NATURE IMMUNOLOGY