标题
C9orf72: At the intersection of lysosome cell biology and neurodegenerative disease
作者
关键词
-
出版物
TRAFFIC
Volume 18, Issue 5, Pages 267-276
出版商
Wiley
发表日期
2017-03-07
DOI
10.1111/tra.12477
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Full ablation of C9orf72 in mice causes immune system-related pathology and neoplastic events but no motor neuron defects
- (2016) Emma Sudria-Lopez et al. ACTA NEUROPATHOLOGICA
- What we know about TMEM106B in neurodegeneration
- (2016) Alexandra M. Nicholson et al. ACTA NEUROPATHOLOGICA
- C9orf72 isoforms in Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration
- (2016) Shangxi Xiao et al. BRAIN RESEARCH
- Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation
- (2016) Hansen Lui et al. CELL
- Rab35 GTPase Triggers Switch-like Recruitment of the Lowe Syndrome Lipid Phosphatase OCRL on Newborn Endosomes
- (2016) Clothilde Cauvin et al. CURRENT 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
- 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 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
- C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production and glomerulonephropathy in mice
- (2016) Amanda Atanasio et al. Scientific Reports
- Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing
- (2015) Martin H. Schludi et al. ACTA NEUROPATHOLOGICA
- C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits
- (2015) Max Koppers et al. ANNALS OF NEUROLOGY
- Beyond indigestion: emerging roles for lysosome-based signaling in human disease
- (2015) Shawn M Ferguson CURRENT OPINION IN CELL BIOLOGY
- DENND2B activates Rab13 at the leading edge of migrating cells and promotes metastatic behavior
- (2015) Maria S. Ioannou et al. JOURNAL OF CELL BIOLOGY
- The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter
- (2015) I Gijselinck et al. MOLECULAR PSYCHIATRY
- Massive accumulation of luminal protease-deficient axonal lysosomes at Alzheimer’s disease amyloid plaques
- (2015) Swetha Gowrishankar et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- 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
- VCP-dependent muscle degeneration is linked to defects in a dynamic tubular lysosomal network in vivo
- (2015) Alyssa E Johnson et al. eLife
- C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration
- (2014) Stephanie May et al. ACTA NEUROPATHOLOGICA
- C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD
- (2014) Elaine Y. Liu et al. ACTA NEUROPATHOLOGICA
- TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions
- (2014) Michael D. Gallagher et al. ACTA NEUROPATHOLOGICA
- TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia
- (2014) Marka van Blitterswijk et al. ACTA NEUROPATHOLOGICA
- Frontotemporal dementia: a bridge between dementia and neuromuscular disease
- (2014) Adeline S.L. Ng et al. Annals of the New York Academy of Sciences
- FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation
- (2014) Elaine A Dunlop et al. Autophagy
- Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions
- (2014) Johnathan Cooper-Knock et al. BRAIN
- C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking
- (2014) Manal A. Farg et al. HUMAN MOLECULAR GENETICS
- Lysosome size, motility and stress response regulated by fronto-temporal dementia modifier TMEM106B
- (2014) Massimiliano Stagi et al. MOLECULAR AND CELLULAR NEUROSCIENCE
- C9orf72 nucleotide repeat structures initiate molecular cascades of disease
- (2014) Aaron R. Haeusler et al. NATURE
- Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models
- (2014) Sami J Barmada et al. Nature Chemical Biology
- WDSPdb: a database for WD40-repeat proteins
- (2014) Yang Wang et al. NUCLEIC ACIDS RESEARCH
- C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins
- (2014) S. Mizielinska et al. SCIENCE
- Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells
- (2014) I. Kwon et al. SCIENCE
- Macrophage Models of Gaucher Disease for Evaluating Disease Pathogenesis and Candidate Drugs
- (2014) E. Aflaki et al. Science Translational Medicine
- Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations
- (2013) Ian R. Mackenzie et al. ACTA NEUROPATHOLOGICA
- C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci
- (2013) Sarah Mizielinska et al. ACTA NEUROPATHOLOGICA
- hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations
- (2013) Kohji Mori et al. ACTA NEUROPATHOLOGICA
- 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
- The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs
- (2013) Timothy P. Levine et al. BIOINFORMATICS
- The Disease-associated r(GGGGCC)nRepeat from theC9orf72Gene Forms Tract Length-dependent Uni- and Multimolecular RNA G-quadruplex Structures
- (2013) Kaalak Reddy et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Recruitment of folliculin to lysosomes supports the amino acid–dependent activation of Rag GTPases
- (2013) Constance S. Petit et al. JOURNAL OF CELL BIOLOGY
- RabGEFs are a major determinant for specific Rab membrane targeting
- (2013) Julia Blümer 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
- Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS
- (2013) Peter E.A. Ash et al. NEURON
- RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention
- (2013) Christopher J. Donnelly et al. NEURON
- Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis
- (2013) Shuo-Chien Ling et al. NEURON
- Regulation of Small GTPases by GEFs, GAPs, and GDIs
- (2013) Jacqueline Cherfils et al. PHYSIOLOGICAL REVIEWS
- 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
- Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration
- (2013) Z. Xu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- 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
- The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS
- (2013) K. Mori et al. SCIENCE
- Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic
- (2013) Youn-Bok Lee et al. Cell Reports
- MTORC1 functions as a transcriptional regulator of autophagy by preventing nuclear transport of TFEB
- (2012) Jose A. Martina et al. Autophagy
- Untangling the evolution of Rab G proteins: implications of a comprehensive genomic analysis
- (2012) Tobias H Klöpper et al. BMC BIOLOGY
- Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p
- (2012) G.-Y. R. Hsiung et al. BRAIN
- A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB
- (2012) Carmine Settembre et al. EMBO JOURNAL
- The Transcription Factor TFEB Links mTORC1 Signaling to Transcriptional Control of Lysosome Homeostasis
- (2012) A. Roczniak-Ferguson et al. Science Signaling
- 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
- SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
- (2011) Faisal Fecto ARCHIVES OF NEUROLOGY
- 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
- Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
- (2011) Han-Xiang Deng et al. NATURE
- AMPK and mTOR regulate autophagy through direct phosphorylation of Ulk1
- (2011) Joungmok Kim et al. NATURE CELL BIOLOGY
- 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
- The mTOR-Regulated Phosphoproteome Reveals a Mechanism of mTORC1-Mediated Inhibition of Growth Factor Signaling
- (2011) P. P. Hsu et al. SCIENCE
- Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly
- (2010) Maila Giannandrea et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Ragulator-Rag Complex Targets mTORC1 to the Lysosomal Surface and Is Necessary for Its Activation by Amino Acids
- (2010) Yasemin Sancak et al. CELL
- The Connecdenn Family, Rab35 Guanine Nucleotide Exchange Factors Interfacing with the Clathrin Machinery
- (2010) Andrea L. Marat et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors
- (2010) Shin-ichiro Yoshimura et al. JOURNAL OF CELL BIOLOGY
- The Connecdenn DENN Domain: A GEF for Rab35 Mediating Cargo-Specific Exit from Early Endosomes
- (2010) Patrick D. Allaire et al. MOLECULAR CELL
- Mutations of optineurin in amyotrophic lateral sclerosis
- (2010) Hirofumi Maruyama et al. NATURE
- Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
- (2010) Vivianna M Van Deerlin et al. NATURE GENETICS
- TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers
- (2010) N. Finch et al. NEUROLOGY
- Nutrient-dependent mTORC1 Association with the ULK1–Atg13–FIP200 Complex Required for Autophagy
- (2009) Nao Hosokawa et al. MOLECULAR BIOLOGY OF THE CELL
- ULK-Atg13-FIP200 Complexes Mediate mTOR Signaling to the Autophagy Machinery
- (2009) Chang Hwa Jung et al. MOLECULAR BIOLOGY OF THE CELL
- Rab GTPases as coordinators of vesicle traffic
- (2009) Harald Stenmark NATURE REVIEWS MOLECULAR CELL BIOLOGY
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