Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort (Q36405887)

14 August 2017

Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort (English)

1 reference

Christine Van Broeckhoven

14 August 2017

frontotemporal dementia

1 reference

3

Julie van der Zee

0 references

22

Christine Van Broeckhoven

0 references

Ilse Gijselinck

1

Ilse Gijselinck

0 references

Sara Van Mossevelde

2

Sara Van Mossevelde

0 references

Veerle Bäumer

10

Veerle Bäumer

0 references

Rik Vandenberghe

16

Rik Vandenberghe

1 reference

14 August 2017

Sebastiaan Engelborghs

7

Sebastiaan Engelborghs

1 reference

14 August 2017

19

Peter P De Deyn

1 reference

14 August 2017

21

Marc Cruts

1 reference

14 August 2017

20

Jean-Jacques Martin

1 reference

14 August 2017

14

Maria Mattheijssens

1 reference

14 August 2017

Marleen Van den Broeck

12

Marleen Van den Broeck

1 reference

14 August 2017

11

Ivy Cuijt

1 reference

14 August 2017

4

Anne Sieben

1 reference

14 August 2017

18

Patrick Cras

1 reference

14 August 2017

5

Stéphanie Philtjens

1 reference

14 August 2017

8

Mathieu Vandenbulcke

1 reference

14 August 2017

6

Bavo Heeman

1 reference

14 August 2017

17

Peter De Jonghe

1 reference

14 August 2017

23

BELNEU Consortium

1 reference

14 August 2017

Greet De Baets

9

1 reference

14 August 2017

Karin Peeters

13

1 reference

14 August 2017

Frederic Rousseau

15

1 reference

14 August 2017

language of work or name

English

0 references

publication date

18 November 2015

1 reference

14 August 2017

1 reference

14 August 2017

85

1 reference

14 August 2017

2116-2125

1 reference

14 August 2017

24

1 reference

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

Crystal structure and mechanism of activation of TANK-binding kinase 1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

TBK-1 Promotes Autophagy-Mediated Antimicrobial Defense by Controlling Autophagosome Maturation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

Molecular basis of Tank-binding kinase 1 activation by transautophosphorylation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

TBK1 mediates crosstalk between the innate immune response and autophagy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

A harmonized classification system for FTLD-TDP pathology

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

Crystal structure of inhibitor of κB kinase β

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

TANK-binding kinase 1 attenuates PTAP-dependent retroviral budding through targeting endosomal sorting complex required for transport-I.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

Mutations of optineurin in amyotrophic lateral sclerosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

Regulation of immunity and oncogenesis by the IRF transcription factor family

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

Systematic RNA interference reveals that oncogenic KRAS-driven cancers require TBK1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

The TBK1 adaptor and autophagy receptor NDP52 restricts the proliferation of ubiquitin-coated bacteria

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

The adaptor protein p62/SQSTM1 targets invading bacteria to the autophagy pathway.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

Autophagy fights disease through cellular self-digestion

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

Electrodiagnostic criteria for diagnosis of ALS.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

Molecular analysis and biochemical classification of TDP-43 proteinopathy.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

Autophagy defects contribute to neurodegeneration induced by dysfunctional ESCRT-III.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

The overlap of amyotrophic lateral sclerosis and frontotemporal dementia.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4691687

10.1212/WNL.0000000000002220

21 September 2018

Identifiers

DOI

1 reference

14 August 2017

1 reference

14 August 2017

1 reference