(Q51601392)

English

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

scientific article published on 24 August 2015

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/26303227

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

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/26303227

amyotrophic lateral sclerosis

1 reference

based on heuristic

inferred from title

Johnathan Cooper-Knock

3

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/26303227

8

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/26303227

9

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/26303227

object named as

Joanna J Bury

1

0 references

Emily F. Goodall

object named as

Emily F Goodall

4

0 references

author name string

J Robin Highley

2

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/26303227

Adrian Higginbottom

5

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/26303227

Christopher J McDermott

6

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/26303227

Paul G Ince

7

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/26303227

publication date

24 August 2015

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/26303227

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/26303227

36

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/26303227

2

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/26303227

125-134

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/26303227

Diagnosis and management of motor neurone disease

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Global epidemiology of amyotrophic lateral sclerosis: a systematic review of the published literature

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Effects of gender in amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

State of play in amyotrophic lateral sclerosis genetics

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Mutations of optineurin in amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Extensive genetics of ALS: a population-based study in Italy

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese.

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Toward an integrative view of Optineurin functions

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Cellular and molecular biology of optineurin

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Inhibition of metabotropic glutamate receptor signaling by the huntingtin-binding protein optineurin

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Mutant huntingtin impairs post-Golgi trafficking to lysosomes by delocalizing optineurin/Rab8 complex from the Golgi apparatus

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Amyotrophic lateral sclerosis associated with genetic abnormalities in the gene encoding Cu/Zn superoxide dismutase: molecular pathology of five new cases, and comparison with previous reports and 73 sporadic cases of ALS.

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis.

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study.

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Finishing the euchromatic sequence of the human genome

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Optineurin immunoreactivity in neuronal nuclear inclusions of polyglutamine diseases (Huntington's, DRPLA, SCA2, SCA3) and intranuclear inclusion body disease

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Optineurin is colocalized with ubiquitin in Marinesco bodies.

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Ubiquilin 2: a component of the ubiquitin-proteasome system with an emerging role in neurodegeneration

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Ubiquitin-independent function of optineurin in autophagic clearance of protein aggregates

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Mutations in the ubiquitin-binding domain of OPTN/optineurin interfere with autophagy-mediated degradation of misfolded proteins by a dominant-negative mechanism

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12240

21 January 2018

Identifiers

10.1111/NEUP.12240

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/26303227

1 reference

Europe PubMed Central

7 April 2018

http://europepmc.org/abstract/MED/26303227

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q51601392&oldid=1586384696"