相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。The small heat shock protein B8 (HSPB8) efficiently removes aggregating species of dipeptides produced in C9ORF72-related neurodegenerative diseases
Riccardo Cristofani et al.
CELL STRESS & CHAPERONES (2018)
C9orf72 and ATXN2 Repeat Expansions Coexist in a Family With Ataxia, Dementia, and Parkinsonism
Ming Zhang et al.
MOVEMENT DISORDERS (2017)
Gene discovery in amyotrophic lateral sclerosis: implications for clinical management
Ammar Al-Chalabi et al.
NATURE REVIEWS NEUROLOGY (2017)
Toxic PRn poly-dipeptides encoded by the C9orf72 repeat expansion block nuclear import and export
Kevin Y. Shi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
Suppression of C9orf72 RNA repeat-induced neurotoxicity by the ALS-associated RNA-binding protein Zfp106
Barbara Celona et al.
ELIFE (2017)
The Proline/Arginine Dipeptide from Hexanucleotide Repeat Expanded C9ORF72 Inhibits the Proteasome
Rahul Gupta et al.
ENEURO (2017)
C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia
Yoshitsugu Aoki et al.
BRAIN (2017)
The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter
I. Gijselinck et al.
MOLECULAR PSYCHIATRY (2016)
Interplay of endoplasmic reticulum stress and autophagy in neurodegenerative disorders
Yu Cai et al.
AUTOPHAGY (2016)
Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death
Chantal Sellier et al.
EMBO JOURNAL (2016)
The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy
Christopher P. Webster et al.
EMBO JOURNAL (2016)
C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling
Joseph Amick et al.
MOLECULAR BIOLOGY OF THE CELL (2016)
Decoding ALS: from genes to mechanism
J. Paul Taylor et al.
NATURE (2016)
C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons
Rajeeve Sivadasan et al.
NATURE NEUROSCIENCE (2016)
C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD
Yuanjing Liu et al.
NEURON (2016)
Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons
Rodrigo Lopez-Gonzalez et al.
NEURON (2016)
Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs
Jie Jiang et al.
NEURON (2016)
Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts
Nicholas J. Kramer et al.
SCIENCE (2016)
Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease
Aaron Burberry et al.
SCIENCE TRANSLATIONAL MEDICINE (2016)
Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling
Janet Ugolino et al.
PLOS GENETICS (2016)
A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy
Mei Yang et al.
SCIENCE ADVANCES (2016)
C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice
Amanda Atanasio et al.
SCIENTIFIC REPORTS (2016)
Isoform-Specific Antibodies Reveal Distinct Subcellular Localizations of C9orf72 in Amyotrophic Lateral Sclerosis
Shangxi Xiao et al.
ANNALS OF NEUROLOGY (2015)
C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits
Max Koppers et al.
ANNALS OF NEUROLOGY (2015)
Rab8, POSH, and TAK1 regulate synaptic growth in a Drosophila model of frontotemporal dementia
Ryan J. H. West et al.
JOURNAL OF CELL BIOLOGY (2015)
Emerging mechanisms of molecular pathology in ALS
Owen M. Peters et al.
JOURNAL OF CLINICAL INVESTIGATION (2015)
GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport
Brian D. Freibaum et al.
NATURE (2015)
Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS
Mercedes Prudencio et al.
NATURE NEUROSCIENCE (2015)
Patterns of Weakness, Classification of Motor Neuron Disease, and Clinical Diagnosis of Sporadic Amyotrophic Lateral Sclerosis
Jeffrey M. Statland et al.
NEUROLOGIC CLINICS (2015)
C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD
Jacqueline G. O'Rourke et al.
NEURON (2015)
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
Elizabeth T. Cirulli et al.
SCIENCE (2015)
The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition
Maria Lidia Mignogna et al.
NATURE COMMUNICATIONS (2015)
Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology
Gabrielle R. Wilson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
An Overview of Autophagy: Morphology, Mechanism, and Regulation
Katherine R. Parzych et al.
ANTIOXIDANTS & REDOX SIGNALING (2014)
The autophagic roles of Rab small GTPases and their upstream regulators A review
Zsuzsanna Szatmari et al.
AUTOPHAGY (2014)
Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions
Johnathan Cooper-Knock et al.
BRAIN (2014)
Regulation of autophagy by the Rab GTPase network
X. Ao et al.
CELL DEATH AND DIFFERENTIATION (2014)
C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking
Manal A. Farg et al.
HUMAN MOLECULAR GENETICS (2014)
Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion
Adrian J. Waite et al.
NEUROBIOLOGY OF AGING (2014)
Regulation of mTORC1 by amino acids
Liron Bar-Peled et al.
TRENDS IN CELL BIOLOGY (2014)
Stuck in traffic: an emerging theme in diseases of the nervous system
Jacques Neefjes et al.
TRENDS IN NEUROSCIENCES (2014)
Endocytosis and Autophagy: Exploitation or Cooperation?
Sharon A. Tooze et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2014)
Loss of Function of C9orf72 Causes Motor Deficits in a Zebrafish Model of Amyotrophic Lateral Sclerosis
Sorana Ciura et al.
ANNALS OF NEUROLOGY (2013)
The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs
Timothy P. Levine et al.
BIOINFORMATICS (2013)
Rag GTPases mediate amino acid-dependent recruitment of TFEB and MITF to lysosomes
Jose A. Martina et al.
JOURNAL OF CELL BIOLOGY (2013)
Ubiquitin-independent function of optineurin in autophagic clearance of protein aggregates
Jelena Korac et al.
JOURNAL OF CELL SCIENCE (2013)
Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C-elegans
Martine Therrien et al.
PLOS ONE (2013)
Ypt1 recruits the Atg1 kinase to the preautophagosomal structure
Juan Wang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS
Kohji Mori et al.
SCIENCE (2013)
TBK-1 Promotes Autophagy-Mediated Antimicrobial Defense by Controlling Autophagosome Maturation
Manohar Pilli et al.
IMMUNITY (2012)
TBC1D14 regulates autophagosome formation via Rab11-and ULK1-positive recycling endosomes
Andrea Longatti et al.
JOURNAL OF CELL BIOLOGY (2012)
Rab8 Modulates Metabotropic Glutamate Receptor Subtype 1 Intracellular Trafficking and Signaling in a Protein Kinase C-Dependent Manner
Jessica L. Esseltine et al.
JOURNAL OF NEUROSCIENCE (2012)
The Transcription Factor TFEB Links mTORC1 Signaling to Transcriptional Control of Lysosome Homeostasis
Agnes Roczniak-Ferguson et al.
SCIENCE SIGNALING (2012)
C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
Pietro Fratta et al.
SCIENTIFIC REPORTS (2012)
Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease
Dapeng Zhang et al.
Frontiers in Genetics (2012)
SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
Faisal Fecto et al.
ARCHIVES OF NEUROLOGY (2011)
TFEB regulates autophagy An integrated coordination of cellular degradation and recycling processes
Carmine Settembre et al.
AUTOPHAGY (2011)
Autophagosome Precursor Maturation Requires Homotypic Fusion
Kevin Moreau et al.
CELL (2011)
AMPK and mTOR regulate autophagy through direct phosphorylation of Ulk1
Joungmok Kim et al.
NATURE CELL BIOLOGY (2011)
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
Mariely DeJesus-Hernandez et al.
NEURON (2011)
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Alan E. Renton et al.
NEURON (2011)
Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly
Maila Giannandrea et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Motor Neuron Diversity in Development and Disease
Kevin C. Kanning et al.
ANNUAL REVIEW OF NEUROSCIENCE, VOL 33 (2010)
Network organization of the human autophagy system
Christian Behrends et al.
NATURE (2010)
Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS
Daryl A. Bosco et al.
NATURE NEUROSCIENCE (2010)
Novel Antibodies Reveal Inclusions Containing Non-Native SOD1 in Sporadic ALS Patients
Karin Forsberg et al.
PLOS ONE (2010)
Retrograde axonal transport: pathways to cell death?
Eran Perlson et al.
TRENDS IN NEUROSCIENCES (2010)
Biological and Chemical Approaches to Diseases of Proteostasis Deficiency
Evan T. Powers et al.
ANNUAL REVIEW OF BIOCHEMISTRY (2009)
Screening for replication of genome-wide SNP associations in sporadic ALS
Simon Cronin et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
A Gene Network Regulating Lysosomal Biogenesis and Function
Marco Sardiello et al.
SCIENCE (2009)
Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
Caroline Vance et al.
SCIENCE (2009)
Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
T. J. Kwiatkowski et al.
SCIENCE (2009)
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
Jemeen Sreedharan et al.
SCIENCE (2008)
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Manuela Neumann et al.
SCIENCE (2006)
Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice
Taichi Hara et al.
NATURE (2006)
Loss of autophagy in the central nervous system causes neurodegeneration in mice
Masaaki Komatsu et al.
NATURE (2006)
p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death
G Bjorkoy et al.
JOURNAL OF CELL BIOLOGY (2005)
Role for Rab7 in maturation of late autophagic vacuoles
S Jäger et al.
JOURNAL OF CELL SCIENCE (2004)
Autophagy: Many paths to the same end
AM Cuervo
MOLECULAR AND CELLULAR BIOCHEMISTRY (2004)
Rab7 is required for the normal progression of the autophagic pathway in mammalian cells
MG Gutierrez et al.
JOURNAL OF CELL SCIENCE (2004)
分享论文
