SMCR8 negatively regulates AKT and MTORC1 signaling to modulate lysosome biogenesis and tissue homeostasis

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

(2018) Yingying Zhang et al.   GENES & DEVELOPMENT

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

(2018) Yingxiao Shi et al.   NATURE MEDICINE

C9orf72, a protein associated with amyotrophic lateral sclerosis (ALS) is a guanine nucleotide exchange factor

(2018) Shalini Iyer et al.   PeerJ

Microglia and C9orf72 in neuroinflammation and ALS and frontotemporal dementia

(2017) Deepti Lall et al.   JOURNAL OF CLINICAL INVESTIGATION

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

TFEB at a glance

(2016) Gennaro Napolitano et al.   JOURNAL OF CELL SCIENCE

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

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

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

mTOR activation is a biomarker and a central pathway to autoimmune disorders, cancer, obesity, and aging

(2015) Andras Perl   Annals of the New York Academy of Sciences

Dysregulation of Mammalian Target of Rapamycin Signaling in Mouse Models of Autism

(2015) K. M. Huber et al.   JOURNAL OF NEUROSCIENCE

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis

(2015) Jonathan D Rohrer et al.   LANCET NEUROLOGY

Frontotemporal lobar dementia and amyotrophic lateral sclerosis associated with c9orf72 expansion

(2015) I. Le Ber   REVUE NEUROLOGIQUE

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

Regulation of mTORC1 and its impact on gene expression at a glance

(2013) M. Laplante et al.   JOURNAL OF CELL SCIENCE

The Folliculin Tumor Suppressor Is a GAP for the RagC/D GTPases That Signal Amino Acid Levels to mTORC1

(2013) Zhi-Yang Tsun et al.   MOLECULAR CELL

RNA-Guided Human Genome Engineering via Cas9

(2013) P. Mali et al.   SCIENCE

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

Culturing pyramidal neurons from the early postnatal mouse hippocampus and cortex

(2012) Gerard M J Beaudoin et al.   Nature Protocols

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

Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways

(2011) Michela Palmieri et al.   HUMAN MOLECULAR GENETICS

A hexanucleotide repeat expansion in C9ORF72 links amyotrophic lateral sclerosis and frontotemporal dementia

(2011) Heather Wood   Nature Reviews 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