C9orf72/ALFA-1 controls TFEB/HLH-30-dependent metabolism through dynamic regulation of Rag GTPases

C9orf72 deficiency promotes motor deficits of a C9ALS/FTD mouse model in a dose-dependent manner

(2019) Qiang Shao et al.   Acta Neuropathologica Communications

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

(2018) Anna Corrionero et al.   CURRENT BIOLOGY

A C9orf72–CARM1 axis regulates lipid metabolism under glucose starvation-induced nutrient stress

(2018) Yang Liu et al.   GENES & DEVELOPMENT

Progranulin, lysosomal regulation and neurodegenerative disease

(2017) Aimee W. Kao et al.   NATURE REVIEWS NEUROSCIENCE

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

(2017) Jennifer Jung et al.   eLife

Multi-omics Analyses of Starvation Responses Reveal a Central Role for Lipoprotein Metabolism in Acute Starvation Survival in C. elegans

(2017) Eva Bang Harvald et al.   Cell Systems

Amino Acid Sensing by mTORC1: Intracellular Transporters Mark the Spot

(2016) Deborah C.I. Goberdhan et al.   Cell Metabolism

The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy

(2016) Christopher P Webster et al.   EMBO JOURNAL

C9ORF72 Regulates Stress Granule Formation and Its Deficiency Impairs Stress Granule Assembly, Hypersensitizing Cells to Stress

(2016) Niran Maharjan et al.   MOLECULAR NEUROBIOLOGY

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

dbl-1/TGF-β and daf-12/NHR Signaling Mediate Cell-Nonautonomous Effects of daf-16/FOXO on Starvation-Induced Developmental Arrest

(2015) Rebecca E. W. Kaplan et al.   PLoS Genetics

C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD

(2014) Elaine Y. Liu et al.   ACTA NEUROPATHOLOGICA

Autophagy and Its Normal and Pathogenic States in the Brain

(2014) Ai Yamamoto et al.   Annual Review of Neuroscience

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

(2014) Adrian J. Waite et al.   NEUROBIOLOGY OF AGING

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

C9ORF72hexanucleotide repeat expansion as a rare cause of bipolar disorder

(2013) Daniela Galimberti et al.   BIPOLAR DISORDERS

Rag GTPases mediate amino acid–dependent recruitment of TFEB and MITF to lysosomes

(2013) Jose A. Martina et al.   JOURNAL OF CELL BIOLOGY

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

TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop

(2013) Carmine Settembre et al.   NATURE CELL BIOLOGY

MXL-3 and HLH-30 transcriptionally link lipolysis and autophagy to nutrient availability

(2013) Eyleen J. O’Rourke et al.   NATURE CELL BIOLOGY

The role of autophagy in neurodegenerative disease

(2013) Ralph A Nixon   NATURE MEDICINE

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

(2013) D. J. Hensman Moss et al.   NEUROLOGY

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

(2013) Martine Therrien et al.   PLoS One

The TFEB orthologue HLH-30 regulates autophagy and modulates longevity in Caenorhabditis elegans

(2013) Louis R. Lapierre et al.   Nature Communications

C9orf72 Hexanucleotide Repeat Expansions in Clinical Alzheimer Disease

(2013) Matthew Harms et al.   JAMA Neurology

The molecular basis of the frontotemporal lobar degeneration–amyotrophic lateral sclerosis spectrum

(2012) Tim van Langenhove et al.   ANNALS OF MEDICINE

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

(2012) Jose A. Martina et al.   Autophagy

A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB

(2012) Carmine Settembre et al.   EMBO JOURNAL

Caenorhabditis elegansRNA-processing Protein TDP-1 Regulates Protein Homeostasis and Life Span

(2012) Tao Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease

(2012) Sara Rollinson et al.   NEUROBIOLOGY OF AGING

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

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

TFEB Links Autophagy to Lysosomal Biogenesis

(2011) C. Settembre et al.   SCIENCE

C. elegans Major Fats Are Stored in Vesicles Distinct from Lysosome-Related Organelles

(2009) Eyleen J. O'Rourke et al.   Cell Metabolism

A Gene Network Regulating Lysosomal Biogenesis and Function

(2009) Marco Sardiello et al.   SCIENCE

Regulation of TORC1 by Rag GTPases in nutrient response

(2008) Eunjung Kim et al.   NATURE CELL BIOLOGY

The Rag GTPases Bind Raptor and Mediate Amino Acid Signaling to mTORC1

(2008) Y. Sancak et al.   SCIENCE