C9orf72 associates with inactive Rag GTPases and regulates mTORC1‐mediated autophagosomal and lysosomal biogenesis

C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy

(2019) Christopher P. Cali et al.   ACTA NEUROPATHOLOGICA

A C9orf72 ALS/FTD Ortholog Acts in Endolysosomal Degradation and Lysosomal Homeostasis

(2018) Anna Corrionero et al.   CURRENT BIOLOGY

The complex relationship between TFEB transcription factor phosphorylation and subcellular localization

(2018) Rosa Puertollano et al.   EMBO JOURNAL

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

(2018) Yingxiao Shi et al.   NATURE MEDICINE

Mechanism and medical implications of mammalian autophagy

(2018) Ivan Dikic et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Autophagy as a common pathway in amyotrophic lateral sclerosis

(2018) Dao K.H. Nguyen et al.   NEUROSCIENCE LETTERS

H6, a novel hederagenin derivative, reverses multidrug resistance in vitro and in vivo

(2018) Yanting Yang et al.   TOXICOLOGY AND APPLIED PHARMACOLOGY

A complex of C9ORF72 and p62 uses arginine methylation to eliminate stress granules by autophagy

(2018) Maneka Chitiprolu et al.   Nature Communications

Ageing as a risk factor for ALS/FTD

(2017) Teresa Niccoli et al.   HUMAN MOLECULAR GENETICS

Dihydromyricetin protects neurons in an MPTP-induced model of Parkinson's disease by suppressing glycogen synthase kinase-3 beta activity

(2016) Zhao-xiang Ren et al.   ACTA PHARMACOLOGICA SINICA

TARDBP/TDP-43 regulates autophagy in both MTORC1-dependent and MTORC1-independent manners

(2016) Zheng Ying et al.   Autophagy

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

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

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

An Autophagic Flux Probe that Releases an Internal Control

(2016) Takeshi Kaizuka et al.   MOLECULAR CELL

C9orf72 is required for proper macrophage and microglial function in mice

(2016) J. G. ORourke et al.   SCIENCE

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

TDP-43 loss of function increases TFEB activity and blocks autophagosome-lysosome fusion

(2015) Q. Xia et al.   EMBO JOURNAL

Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity

(2015) Zhouteng Tao et al.   HUMAN MOLECULAR GENETICS

Induction of COX-2-PGE2 synthesis by activation of the MAPK/ERK pathway contributes to neuronal death triggered by TDP-43-depleted microglia

(2015) Q Xia et al.   Cell Death & Disease

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

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

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

(2014) S. Mizielinska et al.   SCIENCE

The Nutrient-Responsive Transcription Factor TFE3 Promotes Autophagy, Lysosomal Biogenesis, and Clearance of Cellular Debris

(2014) J. A. Martina et al.   Science Signaling

Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

(2013) Veronique V. Belzil et al.   ACTA NEUROPATHOLOGICA

Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion

(2013) Zhengrui Xi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of function of C9orf72 causes motor deficits in a zebrafish model of Amyotrophic Lateral Sclerosis

(2013) Sorana Ciura et al.   ANNALS OF NEUROLOGY

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

(2013) Peter E.A. Ash et al.   NEURON

Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

(2013) Shuo-Chien Ling 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

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

(2013) K. Mori et al.   SCIENCE

The regulation of N-terminal Huntingtin (Htt552) accumulation by Beclin1

(2012) Jun-chao Wu et al.   ACTA PHARMACOLOGICA SINICA

MTORC1 functions as a transcriptional regulator of autophagy by preventing nuclear transport of TFEB

(2012) Jose A. Martina et al.   Autophagy

mTOR dysfunction contributes to vacuolar pathology and weakness in valosin-containing protein associated inclusion body myopathy

(2012) J. K. Ching et al.   HUMAN MOLECULAR GENETICS

Repeat Expansion inC9ORF72in Alzheimer's Disease

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

The Transcription Factor TFEB Links mTORC1 Signaling to Transcriptional Control of Lysosome Homeostasis

(2012) A. Roczniak-Ferguson et al.   Science Signaling

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

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

TFEB Links Autophagy to Lysosomal Biogenesis

(2011) C. Settembre et al.   SCIENCE

Ragulator-Rag Complex Targets mTORC1 to the Lysosomal Surface and Is Necessary for Its Activation by Amino Acids

(2010) Yasemin Sancak et al.   CELL