The ALS-FTD-linked gene product, C9orf72, regulates neuronal morphogenesis via autophagy

Autophagy and Neurodegeneration: Pathogenic Mechanisms and Therapeutic Opportunities

(2017) Fiona M. Menzies et al.   NEURON

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

(2017) Jennifer Jung et al.   eLife

C9orf72 isoforms in Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration

(2016) Shangxi Xiao et al.   BRAIN RESEARCH

Structure and function of the ULK1 complex in autophagy

(2016) Mary G Lin et al.   CURRENT OPINION IN CELL BIOLOGY

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

Fine-tuning of ULK1 mRNA and protein levels is required for autophagy oscillation

(2016) Francesca Nazio et al.   JOURNAL OF CELL BIOLOGY

Genetics of FTLD: overview and what else we can expect from genetic studies

(2016) Cyril Pottier et al.   JOURNAL OF NEUROCHEMISTRY

Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions

(2016) Tiffany W. Todd et al.   JOURNAL OF NEUROCHEMISTRY

Autophagy inhibition in endogenous and nutrient-deprived conditions reduces dorsal root ganglia neuron survival and neurite growth in vitro

(2016) Joseph-Patrick Clarke et al.   JOURNAL OF NEUROSCIENCE RESEARCH

The Noncanonical Role of ULK/ATG1 in ER-to-Golgi Trafficking Is Essential for Cellular Homeostasis

(2016) Joung Hyuck Joo et al.   MOLECULAR CELL

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons

(2016) Rajeeve Sivadasan et al.   NATURE NEUROSCIENCE

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

(2016) Jie Jiang et al.   NEURON

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

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

(2016) Amanda Atanasio et al.   Scientific Reports

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

mTOR: a pharmacologic target for autophagy regulation

(2015) Young Chul Kim et al.   JOURNAL OF CLINICAL INVESTIGATION

Small Molecule Inhibition of the Autophagy Kinase ULK1 and Identification of ULK1 Substrates

(2015) Daniel F. Egan et al.   MOLECULAR CELL

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP

(2015) Shuying Sun et al.   Nature Communications

AMPK—Sensing Energy while Talking to Other Signaling Pathways

(2014) D. Grahame Hardie   Cell Metabolism

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

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

Loss of mTOR-Dependent Macroautophagy Causes Autistic-like Synaptic Pruning Deficits

(2014) Guomei Tang et al.   NEURON

The ULK1 complex

(2013) Pui-Mun Wong et al.   Autophagy

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

(2013) Timothy P. Levine et al.   BIOINFORMATICS

Autophagy Negatively Regulates Early Axon Growth in Cortical Neurons

(2013) B.-K. Ban et al.   MOLECULAR AND CELLULAR BIOLOGY

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

(2013) Shuo-Chien Ling et al.   NEURON

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

At the end of the autophagic road: an emerging understanding of lysosomal functions in autophagy

(2013) Han-Ming Shen et al.   TRENDS IN BIOCHEMICAL SCIENCES

Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum

(2013) Marc Cruts et al.   TRENDS IN NEUROSCIENCES

Amyloid precursor protein (APP) regulates synaptic structure and function

(2012) Sheue-Houy Tyan et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

Autophagy: Renovation of Cells and Tissues

(2011) Noboru Mizushima et al.   CELL

Beclin1 Controls the Levels of p53 by Regulating the Deubiquitination Activity of USP10 and USP13

(2011) Junli Liu et al.   CELL

DENN Domain Proteins: Regulators of Rab GTPases

(2011) Andrea L. Marat et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Role of AMPK-mTOR-Ulk1/2 in the Regulation of Autophagy: Cross Talk, Shortcuts, and Feedbacks

(2011) S. Alers et al.   MOLECULAR AND CELLULAR BIOLOGY

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

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

Unc-51/ATG1 Controls Axonal and Dendritic Development via Kinesin-Mediated Vesicle Transport in the Drosophila Brain

(2011) Hiroaki Mochizuki et al.   PLoS One

Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors

(2010) Shin-ichiro Yoshimura et al.   JOURNAL OF CELL BIOLOGY

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS

(2010) S.-C. Ling et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Atg101, a novel mammalian autophagy protein interacting with Atg13

(2009) Nao Hosokawa et al.   Autophagy

UNC-51/ATG1 kinase regulates axonal transport by mediating motor-cargo assembly

(2008) H. Toda et al.   GENES & DEVELOPMENT

Identifying specific protein interaction partners using quantitative mass spectrometry and bead proteomes

(2008) Laura Trinkle-Mulcahy et al.   JOURNAL OF CELL BIOLOGY

The Atg8 Conjugation System Is Indispensable for Proper Development of Autophagic Isolation Membranes in Mice

(2008) Yu-shin Sou et al.   MOLECULAR BIOLOGY OF THE CELL