(Q35752114)

English

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

scientific article published on 6 May 2015

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scholarly article

1 reference

Europe PubMed Central

10 August 2017

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease (English)

1 reference

Europe PubMed Central

10 August 2017

whole genome sequencing

1 reference

based on heuristic

inferred from title

frontotemporal lobar degeneration

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based on heuristic

inferred from title

Marka van Blitterswijk

9

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Marka van Blitterswijk

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Kevin F. Bieniek

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Kevin F Bieniek

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Melissa E. Murray

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Melissa E Murray

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Joris A Veltman

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Joris A Veltman

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Rosa Rademakers

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Rosa Rademakers

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Europe PubMed Central

10 August 2017

Ronald C. Petersen

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Ronald C Petersen

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Europe PubMed Central

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David S Knopman

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David S Knopman

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Europe PubMed Central

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Bradley F Boeve

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Bradley F Boeve

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Europe PubMed Central

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Neill R Graff-Radford

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Neill R Graff-Radford

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Europe PubMed Central

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Keith A Josephs

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Keith A Josephs

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Dennis W. Dickson

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Dennis W Dickson

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Joseph E Parisi

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Joseph E Parisi

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Europe PubMed Central

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Kevin B Boylan

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Europe PubMed Central

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Matt Baker

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Alexandra Nicholson

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Alexandra M Nicholson

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NiCole Finch

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Cyril Pottier

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Europe PubMed Central

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Michael A DeTure

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Michael DeTure

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10 August 2017

author name string

Maartje van de Vorst

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Ralph Perkersen

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Europe PubMed Central

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Patricia Brown

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Thomas Ravenscroft

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Christian Gilissen

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Europe PubMed Central

10 August 2017

publication date

6 May 2015

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Europe PubMed Central

10 August 2017

Acta Neuropathologica

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Europe PubMed Central

10 August 2017

130

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10 August 2017

1

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10 August 2017

77-92

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10 August 2017

describes a project that uses

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Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4470809/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

https://scigraph.springernature.com/pub.10.1007/s00401-015-1436-x

0 references

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

C9orf72 promoter hypermethylation is neuroprotective: Neuroimaging and neuropathologic evidence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Pathogenesis/genetics of frontotemporal dementia and how it relates to ALS.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Genome sequencing identifies major causes of severe intellectual disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

The Genome of the Netherlands: design, and project goals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Structure and ubiquitination-dependent activation of TANK-binding kinase 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

NIH Image to ImageJ: 25 years of image analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

The genetics and neuropathology of frontotemporal lobar degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Advances in understanding the molecular basis of frontotemporal dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

FUS and TDP43 genetic variability in FTD and CBS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Polyubiquitin binding to optineurin is required for optimal activation of TANK-binding kinase 1 and production of interferon β.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Autophagy and innate immunity ally against bacterial invasion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Mutations of optineurin in amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

A new subtype of frontotemporal lobar degeneration with FUS pathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Convergence of the NF-kappaB and IRF pathways in the regulation of the innate antiviral response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Tau gene mutations: dissecting the pathogenesis of FTDP-17.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

2 October 2017

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

12 July 2018

Phenotypes in Swiss patients with familial ALS carrying TARDBP mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

25 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

25 September 2018

A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

25 September 2018

Frontotemporal dementia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

25 September 2018

Neuronal and glial inclusions in frontotemporal dementia with or without motor neuron disease are immunopositive for p62

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

25 September 2018

The overlap of amyotrophic lateral sclerosis and frontotemporal dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4470809

25 September 2018

Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25943890

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening of OPTN in French familial amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25943890

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant

1 reference

https://pubmed.ncbi.nlm.nih.gov/25943890

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25943890

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25943890

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/25943890

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany

1 reference

https://pubmed.ncbi.nlm.nih.gov/25943890

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00401-015-1436-X

1 reference

Europe PubMed Central

10 August 2017

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Europe PubMed Central

10 August 2017

1 reference

Europe PubMed Central

10 August 2017

ResearchGate publication ID

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