|
Frontotemporal dementia
|
|
0.800 |
GeneticVariation
|
BEFREE |
Pathological Progression Induced by the Frontotemporal Dementia-Associated R406W Tau Mutation in Patient-Derived iPSCs.
|
31543469 |
2019 |
|
Frontotemporal dementia
|
|
0.800 |
GeneticVariation
|
BEFREE |
Carbazole and 2-arylquinoline binding was only observed in cases with Alzheimer's disease and one case with frontotemporal dementia and parkinsonism linked to chromosome 17 exhibiting a R406W MAPT mutation.
|
29716656 |
2018 |
|
Frontotemporal dementia
|
|
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 |
|
Frontotemporal dementia
|
|
0.800 |
GeneticVariation
|
BEFREE |
Mutations on tau associated with disease, e.g., R406W in frontotemporal dementia with Parkinsonism linked to chromosome 17, altered its conformation to make it a better substrate for kinases.
|
29614672 |
2018 |
|
Frontotemporal dementia
|
|
0.800 |
GeneticVariation
|
BEFREE |
The MAPT c.1216C > T (p.Arg406Trp; R406W) mutation is a known cause of frontotemporal dementia with Parkinsonism linked to chromosome 17 tau with Alzheimer's disease-like clinical features.
|
29370822 |
2018 |
|
Frontotemporal dementia
|
|
0.800 |
GeneticVariation
|
BEFREE |
Induced pluripotent stem cells (iPSCs) derived from a pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia.
|
27345791 |
2016 |
|
Frontotemporal dementia
|
|
0.800 |
GeneticVariation
|
BEFREE |
The R406W amino acid substitution in Tau is associated with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) characterized by Tau-positive filamentous inclusions.
|
25794683 |
2015 |
|
Frontotemporal dementia
|
|
0.800 |
GeneticVariation
|
BEFREE |
Frontotemporal dementia with parkinsonism linked to chromosome 17 with the MAPT R406W mutation presenting with a broad distribution of abundant senile plaques.
|
25377499 |
2015 |
|
Frontotemporal dementia
|
|
0.800 |
GeneticVariation
|
BEFREE |
The MAPT R406W mutation is associated with EOAD-like symptoms and parkinsonism without FTD, as well as distinct cognitive courses.
|
23727082 |
2014 |
|
Frontotemporal dementia
|
|
0.800 |
GeneticVariation
|
BEFREE |
Conditional expression systems for 4-repeat wild-type (WT) tau or the corresponding mutants V337M and R406W were established in human neuroglioma H4 cells to study the effect of tau mutations on the physicochemical properties of tau, and to develop a cellular model for the formation of filamentous tau characteristic of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and Alzheimer's disease.
|
12414518 |
2002 |
|
Frontotemporal dementia
|
|
0.800 |
GeneticVariation
|
BEFREE |
The R406W tau mutation found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) causes a hereditary tauopathy clinically resembling Alzheimer's disease.
|
12368474 |
2002 |
|
Frontotemporal dementia
|
|
0.800 |
GeneticVariation
|
BEFREE |
We have studied biochemical and structural parameters of several missense and deletion mutants of tau protein (G272V, N279K, DeltaK280, P301L, V337M, R406W) found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17).
|
10995239 |
2000 |
|
Frontotemporal dementia
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Pick Disease of the Brain
|
|
0.760 |
GeneticVariation
|
BEFREE |
Pathological Progression Induced by the Frontotemporal Dementia-Associated R406W Tau Mutation in Patient-Derived iPSCs.
|
31543469 |
2019 |
|
Pick Disease of the Brain
|
|
0.760 |
GeneticVariation
|
BEFREE |
Interestingly, FTLD-tau cases with MAPT mutations had similar patterns and severity of neuropathological features to sporadic FTLD-tau subtypes and could be classified into: Pick's disease (K257T), corticobasal degeneration (S305S, IVS10+16, R406W), progressive supranuclear palsy (S305S) or globular glial tauopathy (P301L, IVS10+16).
|
29253099 |
2018 |
|
Pick Disease of the Brain
|
|
0.760 |
GeneticVariation
|
BEFREE |
Carbazole and 2-arylquinoline binding was only observed in cases with Alzheimer's disease and one case with frontotemporal dementia and parkinsonism linked to chromosome 17 exhibiting a R406W MAPT mutation.
|
29716656 |
2018 |
|
Pick Disease of the Brain
|
|
0.760 |
GeneticVariation
|
BEFREE |
Induced pluripotent stem cells (iPSCs) derived from a pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia.
|
27345791 |
2016 |
|
Pick Disease of the Brain
|
|
0.760 |
GeneticVariation
|
BEFREE |
The R406W tau mutation found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) causes a hereditary tauopathy clinically resembling Alzheimer's disease.
|
12368474 |
2002 |
|
Pick Disease of the Brain
|
|
0.760 |
GeneticVariation
|
BEFREE |
We have studied biochemical and structural parameters of several missense and deletion mutants of tau protein (G272V, N279K, DeltaK280, P301L, V337M, R406W) found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17).
|
10995239 |
2000 |
|
Pick Disease of the Brain
|
|
0.760 |
CausalMutation
|
CLINVAR |
|
|
|
|
Supranuclear Palsy, Progressive, 1, Atypical
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Supranuclear Palsy, Progressive, 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
PARKINSON DISEASE, LATE-ONSET
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Alzheimer's Disease
|
|
0.080 |
GeneticVariation
|
BEFREE |
The R406W tau mutation is a unique missense mutation whose patients have been reported to exhibit Alzheimer's disease (AD)-like phenotypes rather than the more typical FTD phenotypes.
|
31543469 |
2019 |
|
Alzheimer's Disease
|
|
0.080 |
GeneticVariation
|
BEFREE |
Carbazole and 2-arylquinoline binding was only observed in cases with Alzheimer's disease and one case with frontotemporal dementia and parkinsonism linked to chromosome 17 exhibiting a R406W MAPT mutation.
|
29716656 |
2018 |