|
rs387906711
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Here, we demonstrate that ALS/FTD UBQLN2 mutants P497H and P506T inhibit protein transport from the endoplasmic reticulum (ER) to the Golgi apparatus in neuronal cells.
|
31802140 |
2019 |
|
rs387906709
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here, we demonstrate that ALS/FTD UBQLN2 mutants P497H and P506T inhibit protein transport from the endoplasmic reticulum (ER) to the Golgi apparatus in neuronal cells.
|
31802140 |
2019 |
|
rs1399104933
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we report an ALS/FTD kindred with a novel K181E TDP-43 mutation that is located in close proximity to the RRM1 domain.
|
31605140 |
2019 |
|
rs63750424
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Pathological Progression Induced by the Frontotemporal Dementia-Associated R406W Tau Mutation in Patient-Derived iPSCs.
|
31543469 |
2019 |
|
rs63751273
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Diversity of 30-Mb haplotypes found in Barcelona and the inference of the mutation age in these populations, among other reasons, suggest that prevalence of FTD linked to P301L MAPT mutation is the result of a locally originated mutation.
|
31537395 |
2019 |
|
rs1295855402
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Novel P397S MAPT variant associated with late onset and slow progressive frontotemporal dementia.
|
31402617 |
2019 |
|
rs63751438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We have previously recapitulated aspects of human FTD in mouse models by overexpressing mutant human tau in CNS neurons, including a P301S tau variant in TAU58/2 mice, characterized by early-onset and progressive behavioral deficits and FTD-like neuropathology.
|
31366728 |
2019 |
|
rs377163259
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have used a combined structural and cell biological approach to study if two frontotemporal dementia (FTD)-associated pathologic mutations, V337M and N279K, affect the aggregation, conformation and cellular internalization of the tau four-repeat domain (K18) fragment.
|
31338022 |
2019 |
|
rs758576072
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have used a combined structural and cell biological approach to study if two frontotemporal dementia (FTD)-associated pathologic mutations, V337M and N279K, affect the aggregation, conformation and cellular internalization of the tau four-repeat domain (K18) fragment.
|
31338022 |
2019 |
|
rs72824905
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We replicated the association of rs72824905-G with reduced AD risk and we found an association with reduced risk of dementia with Lewy bodies (DLB) and frontotemporal dementia (FTD).
|
31131421 |
2019 |
|
rs33949390
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A common splice-site variant rs514492 in the FTD-causal gene VCP showed a positive association with AD risk (P = 0.0003, OR = 1.618), whereas the rare missense variant rs33949390 (p. R 1628P) in the LBD-causal gene LRRK2 showed a protective effect on AD risk (P = 0.0004, OR = 0.170).
|
30954774 |
2019 |
|
rs514492
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A common splice-site variant rs514492 in the FTD-causal gene VCP showed a positive association with AD risk (P = 0.0003, OR = 1.618), whereas the rare missense variant rs33949390 (p. R 1628P) in the LBD-causal gene LRRK2 showed a protective effect on AD risk (P = 0.0004, OR = 0.170).
|
30954774 |
2019 |
|
rs63751438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In the present study, we used mice transgenic for human tau with the frontotemporal dementia with parkinsonism-associated P301S mutation.
|
30847469 |
2019 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
BEFREE |
[<sup>11</sup> C]PBB3-PET can capture four-repeat tau pathologies characteristic of N279K mutant frontotemporal dementia and parkinsonism linked to chromosome 17/MAPT.
|
30773680 |
2019 |
|
rs1417373701
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We reported a Chinese FTD patient carrying TBK1 p.Ile334Thr variant detected by target sequencing and Sanger sequencing.
|
30672142 |
2019 |
|
rs767076633
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We reported a Chinese FTD patient carrying TBK1 p.Ile334Thr variant detected by target sequencing and Sanger sequencing.
|
30672142 |
2019 |
|
rs773403329
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We reported a Chinese FTD patient carrying TBK1 p.Ile334Thr variant detected by target sequencing and Sanger sequencing.
|
30672142 |
2019 |
|
rs63751273
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Remarkably, the P301L mutation, related to frontotemporal dementia FTDP-17, impairs this mechanism leading to a loss of function.
|
30664870 |
2019 |
|
rs63750424
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Here, we demonstrate that MAPT p.R406W is sufficient to induce changes in GABA-mediated signaling and synaptic function, which may contribute to the pathogenesis of FTLD-tau and other primary tauopathies.
|
30546007 |
2018 |
|
rs387906711
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Analysis of 226 exome-sequenced UK cases of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia identified 2 individuals who harbored a P497H and P506S UBQLN2 mutation, respectively (n = 0.9%).
|
30348461 |
2019 |
|
rs387906709
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Analysis of 226 exome-sequenced UK cases of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia identified 2 individuals who harbored a P497H and P506S UBQLN2 mutation, respectively (n = 0.9%).
|
30348461 |
2019 |
|
rs1386649838
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel (p.Thr262Ser and p.Arg159Ser) and one reported (p.Met158Val) VCP mutations in three patients with a clinical diagnosis of FTD were identified, and were absence in population-match controls.
|
30103325 |
2018 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The N279K mutation is one of the three mutations more prevalent in FTDP-17 cases.
|
30050413 |
2018 |
|
rs1057518919
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found genetic etiology in 6 patients: 2 mutations in the PSEN1 gene (p.Pro264Ser and p.Phe105Cys) in the EOAD patients, C9orf72 expansion and MAPT (c.1920+16C>T), mutation in the FTD group of patients as well as MAPT (c.1920+16C>T) mutation and likely pathogenic mutation in the TYROBP mutation (p.Asp32Asn) in patients with unspecified diagnosis.
|
29930232 |
2018 |
|
rs1284201310
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found genetic etiology in 6 patients: 2 mutations in the PSEN1 gene (p.Pro264Ser and p.Phe105Cys) in the EOAD patients, C9orf72 expansion and MAPT (c.1920+16C>T), mutation in the FTD group of patients as well as MAPT (c.1920+16C>T) mutation and likely pathogenic mutation in the TYROBP mutation (p.Asp32Asn) in patients with unspecified diagnosis.
|
29930232 |
2018 |