Related references
Note: Only part of the references are listed.Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72
Qiang Zhu et al.
NATURE NEUROSCIENCE (2020)
Phosphorylated TDP-43 aggregates in skeletal and cardiac muscle are a marker of myogenic degeneration in amyotrophic lateral sclerosis and various conditions
Fumiaki Mori et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2019)
Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels
Shangxi Xiao et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2019)
A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism
Bart Swinnen et al.
ACTA NEUROPATHOLOGICA (2018)
C9orf72 is essential for neurodevelopment and motility mediated by Cyclin G1
Tu-Hsueh Yeh et al.
EXPERIMENTAL NEUROLOGY (2018)
The C9orf72-interacting protein Smcr8 is a negative regulator of autoimmunity and lysosomal exocytosis
Yingying Zhang et al.
GENES & DEVELOPMENT (2018)
Expression of C9orf72-related dipeptides impairs motor function in a vertebrate model
Amrutha Swaminathan et al.
HUMAN MOLECULAR GENETICS (2018)
Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis
Yong-Jie Zhang et al.
NATURE MEDICINE (2018)
Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons
Yingxiao Shi et al.
NATURE MEDICINE (2018)
A comparative bioinformatic analysis of C9orf72
Shalini Iyer et al.
PEERJ (2018)
Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers
Petra Frick et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2018)
Transcriptomic Analysis of Zebrafish TDP-43 Transgenic Lines
Alexandra Lissouba et al.
FRONTIERS IN MOLECULAR NEUROSCIENCE (2018)
Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features
Matthew P. Shaw et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2018)
Glycine-alanine dipeptide repeat protein contributes to toxicity in a zebrafish model of C9orf72 associated neurodegeneration
Yu Ohki et al.
MOLECULAR NEURODEGENERATION (2017)
Amyotrophic Lateral Sclerosis
Robert H. Brown et al.
NEW ENGLAND JOURNAL OF MEDICINE (2017)
Neuroleptics as therapeutic compounds stabilizing neuromuscular transmission in amyotrophic lateral sclerosis
Shunmoogum A. Patten et al.
JCI INSIGHT (2017)
In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers
Mariely DeJesus-Hernandez et al.
ACTA NEUROPATHOLOGICA (2017)
Neuronal labeling patterns in the spinal cord of adult transgenic Zebrafish
Aurelie Stil et al.
DEVELOPMENTAL NEUROBIOLOGY (2016)
There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS
Aaron D. Gitler et al.
BRAIN RESEARCH (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)
Nuclear transport dysfunction: a common theme in amyotrophic lateral sclerosis and frontotemporal dementia
Ana Jovicic et al.
JOURNAL OF NEUROCHEMISTRY (2016)
ZNStress: a high-throughput drug screening protocol for identification of compounds modulating neuronal stress in the transgenic mutant sod1G93R zebrafish model of amyotrophic lateral sclerosis
Alexander McGown et al.
MOLECULAR NEURODEGENERATION (2016)
The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease
Aaron R. Haeusler et al.
NATURE REVIEWS NEUROSCIENCE (2016)
Elevation of serum heat-shock protein levels in amyotrophic lateral sclerosis
Daigo Miyazaki et al.
NEUROLOGICAL SCIENCES (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)
The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway
Peter M. Sullivan et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2016)
Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy
Johnathan Cooper-Knock et al.
ACTA NEUROPATHOLOGICA (2015)
Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration
EunRan Suh et al.
ACTA NEUROPATHOLOGICA (2015)
Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing
Martin H. Schludi et al.
ACTA NEUROPATHOLOGICA (2015)
Isoform-Specific Antibodies Reveal Distinct Subcellular Localizations of C9orf72 in Amyotrophic Lateral Sclerosis
Shangxi Xiao et al.
ANNALS OF NEUROLOGY (2015)
Reverse Genetic Screening Reveals Poor Correlation between Morpholino-Induced and Mutant Phenotypes in Zebrafish
Fatma O. Kok et al.
DEVELOPMENTAL CELL (2015)
The C9orf72 repeat expansion disrupts nucleocytoplasmic transport
Ke Zhang et al.
NATURE (2015)
GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport
Brian D. Freibaum et al.
NATURE (2015)
Neural Differentiation Modulates the Vertebrate Brain Specific Splicing Program
Alicia Madgwick et al.
PLOS ONE (2015)
Effective heritable gene knockdown in zebrafish using synthetic microRNAs
Jean Giacomotto et al.
NATURE COMMUNICATIONS (2015)
Genome editing using artificial site-specific nucleases in zebrafish
Yu Hisano et al.
DEVELOPMENT GROWTH & DIFFERENTIATION (2014)
Zebrafish models in translational research: tipping the scales toward advancements in human health
Jennifer B. Phillips et al.
DISEASE MODELS & MECHANISMS (2014)
Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia
Oriol Dols-Icardo 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)
Antisense Proline-Arginine RAN Dipeptides Linked to C9ORF72-ALS/FTD Form Toxic Nuclear Aggregates that Initiate In Vitro and In Vivo Neuronal Death
Xinmei Wen et al.
NEURON (2014)
Zebrafish models of human motor neuron diseases: Advantages and limitations
Patrick J. Babin et al.
PROGRESS IN NEUROBIOLOGY (2014)
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins
Sarah Mizielinska et al.
SCIENCE (2014)
Confirmatory double-blind, parallel-group, placebo-controlled study of efficacy and safety of edaravone (MCI-186) in amyotrophic lateral sclerosis patients
Koji Abe et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2014)
Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations
Ian R. Mackenzie et al.
ACTA NEUROPATHOLOGICA (2013)
C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci
Sarah Mizielinska et al.
ACTA NEUROPATHOLOGICA (2013)
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins
Kohji Mori et al.
ACTA NEUROPATHOLOGICA (2013)
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
Tania F. Gendron et al.
ACTA NEUROPATHOLOGICA (2013)
Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood
Veronique V. Belzil et al.
ACTA NEUROPATHOLOGICA (2013)
Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons
Sandra Almeida et al.
ACTA NEUROPATHOLOGICA (2013)
Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion
Zhengrui Xi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
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)
Development of Cre-loxP technology in zebrafish to study the regulation of fish reproduction
Heng-Ju Lin et al.
FISH PHYSIOLOGY AND BIOCHEMISTRY (2013)
Genomic editing open new avenues for zebrafish as a model for neurodegeneration
Bettina Schmid et al.
JOURNAL OF NEUROCHEMISTRY (2013)
The zebrafish reference genome sequence and its relationship to the human genome
Kerstin Howe et al.
NATURE (2013)
Efficient genome editing in zebrafish using a CRISPR-Cas system
Woong Y. Hwang et al.
NATURE BIOTECHNOLOGY (2013)
Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS
Peter E. A. Ash et al.
NEURON (2013)
Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C-elegans
Martine Therrien et al.
PLOS ONE (2013)
Loss of ALS-associated TDP-43 in zebrafish causes muscle degeneration, vascular dysfunction, and reduced motor neuron axon outgrowth
Bettina Schmid et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
Tao Zu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration
Clotilde Lagier-Tourenne et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic
Youn-Bok Lee et al.
CELL REPORTS (2013)
How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?
Marka van Blitterswijk et al.
CURRENT OPINION IN NEUROLOGY (2012)
In Vivo Testing of MicroRNA-Mediated Gene Knockdown in Zebrafish
Ivone Un San Leong et al.
JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY (2012)
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Elisa Majounie et al.
LANCET NEUROLOGY (2012)
Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype
Nicola J. Rutherford et al.
NEUROBIOLOGY OF AGING (2012)
p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS
Safa Al-Sarraj et al.
ACTA NEUROPATHOLOGICA (2011)
Zebrafish models for the functional genomics of neurogenetic disorders
Edor Kabashi et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2011)
Lessons from morpholino-based screening in zebrafish
Victoria M. Bedell et al.
BRIEFINGS IN FUNCTIONAL GENOMICS (2011)
Amyotrophic lateral sclerosis
Matthew C. Kiernan et al.
LANCET (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)
FUS and TARDBP but Not SOD1 Interact in Genetic Models of Amyotrophic Lateral Sclerosis
Edor Kabashi et al.
PLOS GENETICS (2011)
ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import
Dorothee Dormann et al.
EMBO JOURNAL (2010)
Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo
Edor Kabashi et al.
HUMAN MOLECULAR GENETICS (2010)
Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules
Daryl A. Bosco et al.
HUMAN MOLECULAR GENETICS (2010)
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)
Gal4/UAS transgenic tools and their application to zebrafish
Marnie E. Halpern et al.
ZEBRAFISH (2008)
Overexpression of mutant superoxide dismutase 1 causes a motor axonopathy in the zebrafish
Robin Lemmens et al.
HUMAN MOLECULAR GENETICS (2007)
Animal models of human disease: zebrafish swim into view
Graham J. Lieschke et al.
NATURE REVIEWS GENETICS (2007)
Transgenic mouse models of amyotrophic lateral sclerosis
Jean-Pierre Julien et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2006)
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Manuela Neumann et al.
SCIENCE (2006)
The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryo
Jonathan D. Wood et al.
HUMAN MOLECULAR GENETICS (2006)
Modulatory Neurotransmitter Systems and Behavior: Towards Zebrafish Models of Neurodegenerative Diseases
Pertti Panula et al.
ZEBRAFISH (2006)
Molecular biology of amyotrophic lateral sclerosis: insights from genetics
Piera Pasinelli et al.
NATURE REVIEWS NEUROSCIENCE (2006)
Can zebrafish be used as a model to study the neurodevelopmental causes of autism?
V Tropepe et al.
GENES BRAIN AND BEHAVIOR (2003)
Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding
ML McWhorter et al.
JOURNAL OF CELL BIOLOGY (2003)
Spatial memory and hippocampal pallium through vertebrate evolution:: Insights from reptiles and teleost fish
F Rodríguez et al.
BRAIN RESEARCH BULLETIN (2002)
Identification of a functional transposase of the Tol2 element, an Ac-like element from the Japanese medaka fish, and its transposition in the zebrafish germ lineage
K Kawakami et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)