(Q29347553)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534431%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

title

A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534431%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

21 March 2020

main subject

0 references

Optineurin

1 reference

GOA release 2020-03-11

Golgi ribbon formation

1 reference

GOA release 2020-03-11

author

Jennifer A. Fifita

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534431%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Vinod Sundaramoorthy

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534431%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Emily P McCann

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534431%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Julie D Atkin

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534431%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Ian P Blair

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534431%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

2

Kelly L Williams

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534431%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

author name string

Garth A Nicholson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534431%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

publication date

18 August 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534431%20AND%20SRC:MED&resulttype=core&format=json

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

21 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534431%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534431%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

page(s)

126-133

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534431%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

issue

1-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534431%20AND%20SRC:MED&resulttype=core&format=json

Adult-onset primary open-angle glaucoma caused by mutations in optineurin

21 March 2020

cites work

1 reference

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Phorbol esters and cytokines regulate the expression of the NEMO-related protein, a molecule involved in a NF-kappa B-independent pathway

21 April 2017

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

21 April 2017

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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A method and server for predicting damaging missense mutations

21 April 2017

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Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

21 April 2017

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Protein disulphide isomerase protects against protein aggregation and is S-nitrosylated in amyotrophic lateral sclerosis

21 April 2017

1 reference

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Optineurin is an autophagy receptor for damaged mitochondria in parkin-mediated mitophagy that is disrupted by an ALS-linked mutation

21 April 2017

1 reference

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Dynamic recruitment and activation of ALS-associated TBK1 with its target optineurin are required for efficient mitophagy

21 April 2017

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 April 2017

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Mutations of optineurin in amyotrophic lateral sclerosis

21 April 2017

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El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis

21 April 2017

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MutationTaster evaluates disease-causing potential of sequence alterations

21 April 2017

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Detection of nonneutral substitution rates on mammalian phylogenies

21 April 2017

1 reference

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Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS.

22 May 2017

1 reference

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Optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in China.

21 January 2018

1 reference

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Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS.

21 January 2018

1 reference

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ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F21678421.2016.1218517

OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F21678421.2016.1218517

Genetic heterogeneity of amyotrophic lateral sclerosis: implications for clinical practice and research

21 January 2018

1 reference

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FIP-2, an IkappaB-kinase-gamma-related protein, is associated with the Golgi apparatus and translocates to the marginal band during chicken erythroblast differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F21678421.2016.1218517

Myosin VI and its binding partner optineurin are involved in secretory vesicle fusion at the plasma membrane.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F21678421.2016.1218517

Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis.

21 January 2018

1 reference

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Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin.

21 January 2018

1 reference

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From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

21 January 2018

1 reference

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Predicting the functional impact of protein mutations: application to cancer genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F21678421.2016.1218517

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F21678421.2016.1218517

PHAST and RPHAST: phylogenetic analysis with space/time models

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F21678421.2016.1218517

Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis

21 January 2018

1 reference

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Mutant SOD1 inhibits ER-Golgi transport in amyotrophic lateral sclerosis.

21 January 2018

1 reference

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Mutant FUS induces endoplasmic reticulum stress in amyotrophic lateral sclerosis and interacts with protein disulfide-isomerase.

21 January 2018

1 reference

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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F21678421.2016.1218517

Golgi fragmentation precedes neuromuscular denervation and is associated with endosome abnormalities in SOD1-ALS mouse motor neurons

21 January 2018

1 reference

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A role for motoneuron subtype-selective ER stress in disease manifestations of FALS mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F21678421.2016.1218517

Impairment of protein trafficking upon overexpression and mutation of optineurin

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F21678421.2016.1218517

Studies of optineurin, a glaucoma gene: Golgi fragmentation and cell death from overexpression of wild-type and mutant optineurin in two ocular cell types

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F21678421.2016.1218517

Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F21678421.2016.1218517

Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS.

21 January 2018

1 reference

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Functional recovery in new mouse models of ALS/FTLD after clearance of pathological cytoplasmic TDP-43.

21 January 2018

1 reference

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Intercellular propagated misfolding of wild-type Cu/Zn superoxide dismutase occurs via exosome-dependent and -independent mechanisms

21 January 2018

1 reference

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The ubiquitin kinase PINK1 recruits autophagy receptors to induce mitophagy

21 January 2018

1 reference

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Optineurin suppression causes neuronal cell death via NF-κB pathway.

21 January 2018

1 reference

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Optineurin with amyotrophic lateral sclerosis-related mutations abrogates inhibition of interferon regulatory factor-3 activation

21 January 2018

1 reference

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Defects in autophagy caused by glaucoma-associated mutations in optineurin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F21678421.2016.1218517

Induction of autophagy in rats upon overexpression of wild-type and mutant optineurin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F21678421.2016.1218517

Myosin VI and its cargo adaptors - linking endocytosis and autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F21678421.2016.1218517

Mutational analysis of familial and sporadic amyotrophic lateral sclerosis withOPTNmutations in Japanese population

21 January 2018

1 reference

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A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F21678421.2016.1218517

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F21678421.2016.1218517

10.1080/21678421.2016.1218517

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534431%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

1 reference