Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
So far, more than 70 TBK1 variants have been identified in patients with FTD-ALS spectrum.
|
30672142 |
2019 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Through inspection of our whole-genome sequence data for genes with an excess of rare loss-of-function variants in FTLD-TDP patients (n ≥ 3) as compared to controls (n = 0), we further discovered a possible role for genes functioning within the TBK1-related immune pathway (e.g., DHX58, TRIM21, IRF7) in the genetic etiology of FTLD-TDP.
|
30739198 |
2019 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the <i>TBK1</i> (TANK binding kinase 1) gene are causally linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
|
30939964 |
2019 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
These data shed light on the neuropathological changes that result from Tbk1 deficiency and hint at impaired autophagy as a contributing factor to the cognitive and locomotor deficits that characterize FTD-ALS in patients with Tkb1 haploinsufficiency.
|
31039129 |
2019 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Post-mortem immunohistochemistry established an individual with the novel in-frame deletion had classical ALS and Type B FTLD-TDP pathology, with no changes in TBK1 staining or interferon regulatory factor IRF3.
|
31498468 |
2019 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Partial loss of TANK-binding kinase 1 (TBK1) causes amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).Xu et al. identify the role of TBK1 in suppressing neuroinflammation and apoptosis by its inhibition of the receptor-interacting serine/threonine-protein kinase 1 (RIPK1) and elucidate how aging and genetic susceptibility together cause neuroinflammation.
|
30193106 |
2018 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Here, we investigate how partial loss of function of TBK1, a major genetic cause for amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) comorbidity, leads to age-dependent neurodegeneration.
|
30146158 |
2018 |
Frontotemporal dementia
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
The association between common variants in TBK1, disease risk and reduced TBK1 expression warrants follow-up in FTD/ALS cohorts.
|
29146049 |
2018 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
The TANK-Binding Kinase 1 (<i>TBK1</i>) gene has recently been identified as the third or fourth most frequent cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS).
|
30534373 |
2018 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Up to now, 90 TBK1 variants have been described in ALS patients with or without frontotemporal dementia (FTD), thus making TBK1 the third or fourth most frequent genetic cause of ALS and FTD.
|
29103041 |
2018 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our findings demonstrate that the phenotypic spectrum of TBK1 mutations extends beyond ALS and FTD to include also progressive supranuclear palsy-like and cerebellar syndromes, with mesencephalon and cerebellum representing recurrent sites of TBK1-associated neurodegeneration.
|
29137817 |
2018 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Association between TBK1 mutations and risk of amyotrophic lateral sclerosis/frontotemporal dementia spectrum: a meta-analysis.
|
29349657 |
2018 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the TANK-binding kinase 1 (<i>TBK1</i>) gene have recently been shown to cause frontotemporal dementia (FTD).
|
28229125 |
2017 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Total mutation frequency for confirmed TBK1 LoF mutations in the European cohort was 0.7%, with frequencies in the clinical subgroups of 0.4% in FTD, 1.3% in ALS, and 3.6% in FTD-ALS.
|
28008748 |
2017 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
These findings suggest that haploinsufficiency of TBK1 is causative for ALS and FTD regardless of the type of mutation.
|
27892983 |
2017 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The importance of TANK binding kinase-1 (TBK1), a multimeric kinase that modulates inflammation and autophagy, in human health has been highlighted for the first time by the recent discoveries of mutations in TBK1 that underlie amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), normal tension glaucoma (NTG) or childhood herpes simplex encephalitis (HSE).
|
27211305 |
2016 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in the TANK-binding kinase 1 (TBK1) gene were identified as a cause for amyotrophic lateral sclerosis (ALS) with or without comorbid frontotemporal dementia.
|
27156075 |
2016 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mutations in a number of other genes including TANK-binding kinase 1 are rare causes of familial FTD.
|
27144467 |
2016 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
TBK1 carriers with amyotrophic lateral sclerosis had shorter disease duration than carriers with frontotemporal dementia.
|
26674655 |
2016 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
TBK1 LOF mutations are the third most frequent cause of clinical FTD in the Belgian clinically based patient cohort, after C9orf72 and GRN, and the second most common cause of clinical ALS after C9orf72.
|
26581300 |
2015 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Our data further add to the growing body of evidence linking ALS and FTD and suggest a key role for the OPTN/TBK1 pathway in these diseases.
|
25943890 |
2015 |
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our results demonstrate that TBK1 loss-of-function mutations are more frequent in patients with FTD-ALS (10.8%) than in isolated ALS.
|
26476236 |
2015 |
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
HPO |
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