CRISPR-Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity. (Q52430610)

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19 March 2020

title

CRISPR-Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity (English)

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Michael S Haney

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Julien Couthouis

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James Ousey

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Gregor Bieri

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Aaron D Gitler

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Marc Tessier-Lavigne

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David W Morgens

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Ana Jovičić

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Amy Li

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C Kimberly Tsui

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Yingxiao Shi

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Nicholas T Hertz

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language of work or name

English

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publication date

5 March 2018

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19 March 2020

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19 March 2020

volume

50

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19 March 2020

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4

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19 March 2020

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11 June 2022

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based on heuristic

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exact match

https://scigraph.springernature.com/pub.10.1038/s41588-018-0070-7

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Toxic PR Poly-Dipeptides Encoded by the C9orf72 Repeat Expansion Target LC Domain Polymers

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Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons

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C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal

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25 August 2018

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Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS.

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Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

25 August 2018

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C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

25 August 2018

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

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Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

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25 August 2018

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The neuropathology associated with repeat expansions in the C9ORF72 gene

25 August 2018

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25 August 2018

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25 August 2018

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RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

25 August 2018

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Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis

25 August 2018

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25 August 2018

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Pharmacological brake-release of mRNA translation enhances cognitive memory

25 August 2018

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Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

25 August 2018

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Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

25 August 2018

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The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

25 August 2018

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25 August 2018

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25 August 2018

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25 August 2018

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A yeast functional screen predicts new candidate ALS disease genes

25 August 2018

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25 August 2018

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Functional links between Aβ toxicity, endocytic trafficking, and Alzheimer's disease risk factors in yeast

25 August 2018

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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

25 August 2018

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Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

25 August 2018

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Conversion of mouse and human fibroblasts into functional spinal motor neurons

25 August 2018

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A yeast model of FUS/TLS-dependent cytotoxicity

25 August 2018

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Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS

25 August 2018

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A signaling cascade of nuclear calcium-CREB-ATF3 activated by synaptic NMDA receptors defines a gene repression module that protects against extrasynaptic NMDA receptor-induced neuronal cell death and ischemic brain damage.

25 August 2018

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Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

25 August 2018

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Comprehensive characterization of genes required for protein folding in the endoplasmic reticulum

25 August 2018

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Bridging high-throughput genetic and transcriptional data reveals cellular responses to alpha-synuclein toxicity

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5893388

Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5893388

Signal integration in the endoplasmic reticulum unfolded protein response

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5893388

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5893388

The human protein disulphide isomerase family: substrate interactions and functional properties

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5893388

Promoters and serotypes: targeting of adeno-associated virus vectors for gene transfer in the rat central nervous system in vitro and in vivo

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5893388

25 August 2018

Modeling Human Disease

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FS41588-018-0070-7

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/S41588-018-0070-7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29507424%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29507424%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference