Cryo-EM structure of C9ORF72–SMCR8–WDR41 reveals the role as a GAP for Rab8a and Rab11a

Cryo-EM Structure of the Human FLCN-FNIP2-Rag-Ragulator Complex

(2019) Kuang Shen et al.   CELL

Structural mechanism of a Rag GTPase activation checkpoint by the lysosomal folliculin complex

(2019) Rosalie E. Lawrence et al.   SCIENCE

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-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

Abnormal Rab11-Rab8-vesicles cluster in enterocytes of patients with microvillus inclusion disease

(2017) Georg F. Vogel et al.   TRAFFIC

C9orf72: At the intersection of lysosome cell biology and neurodegenerative disease

(2017) Joseph Amick et al.   TRAFFIC

Architecture and mechanism of the late endosomal Rab7-like Ypt7 guanine nucleotide exchange factor complex Mon1–Ccz1

(2017) Stephan Kiontke et al.   Nature Communications

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

Cdk5 Regulation of the GRAB-Mediated Rab8-Rab11 Cascade in Axon Outgrowth

(2016) Kotaro Furusawa et al.   JOURNAL OF NEUROSCIENCE

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

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

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

(2016) Janet Ugolino et al.   PLoS Genetics

The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains

(2016) Erin G Conlon et al.   eLife

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

A Homogenous Bioluminescent System for Measuring GTPase, GTPase Activating Protein, and Guanine Nucleotide Exchange Factor Activities

(2015) Subhanjan Mondal et al.   ASSAY AND DRUG DEVELOPMENT TECHNOLOGIES

Amino Acids Stimulate TORC1 through Lst4-Lst7, a GTPase-Activating Protein Complex for the Rag Family GTPase Gtr2

(2015) Marie-Pierre Péli-Gulli et al.   Cell Reports

Lst4, the yeast Fnip1/2 orthologue, is a DENN-family protein

(2015) Angela Pacitto et al.   Open Biology

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

Antisense Proline-Arginine RAN Dipeptides Linked to C9ORF72-ALS/FTD Form Toxic Nuclear Aggregates that Initiate In Vitro and In Vivo Neuronal Death

(2014) Xinmei Wen et al.   NEURON

RABEX-5 Is Upregulated and Plays an Oncogenic Role in Gastric Cancer Development by Activating the VEGF Signaling Pathway

(2014) Shuang Wang et al.   PLoS One

Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells

(2014) I. Kwon et al.   SCIENCE

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

(2013) Timothy P. Levine et al.   BIOINFORMATICS

Recruitment of folliculin to lysosomes supports the amino acid–dependent activation of Rag GTPases

(2013) Constance S. Petit 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

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

(2013) Shuo-Chien Ling et al.   NEURON

Rab35: GEFs, GAPs and Effectors

(2013) Mathilde Chaineau et al.   TRAFFIC

The ER–Golgi intermediate compartment is a key membrane source for the LC3 lipidation step of autophagosome biogenesis

(2013) Liang Ge et al.   eLife

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer

(2012) R. K. Nookala et al.   Open Biology

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

DENN Domain Proteins: Regulators of Rab GTPases

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

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

Insights regarding guanine nucleotide exchange from the structure of a DENN-domain protein complexed with its Rab GTPase substrate

(2011) X. Wu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structure and function of WD40 domain proteins

(2011) Chao Xu et al.   Protein & Cell

Rab GEFs and GAPs

(2010) Francis Barr et al.   CURRENT OPINION IN CELL BIOLOGY

Coordination of Rab8 and Rab11 in primary ciliogenesis

(2010) A. Knodler et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetics of motor neuron disorders: new insights into pathogenic mechanisms

(2009) Patrick A. Dion et al.   NATURE REVIEWS GENETICS