|
Frontotemporal dementia
|
|
0.800 |
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 |
Pathological Progression Induced by the Frontotemporal Dementia-Associated R406W Tau Mutation in Patient-Derived iPSCs.
|
31543469 |
2019 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Alzheimer's Disease
|
|
0.080 |
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 |
|
Tauopathies
|
|
0.070 |
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 |
|
Tauopathies
|
|
0.070 |
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 |
|
Parkinsonian Disorders
|
|
0.030 |
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 |
|
Parkinsonian Disorders
|
|
0.030 |
GeneticVariation
|
BEFREE |
R406W homozygotes had an earlier age at onset and a higher frequency of behavioral symptoms and Parkinsonism than heterozygotes.
|
29370822 |
2018 |
|
Progressive supranuclear palsy
|
|
0.020 |
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 |
|
Memory impairment
|
|
0.020 |
GeneticVariation
|
BEFREE |
R406W patients often show a long course of disease with marked memory deficits.
|
29370822 |
2018 |
|
Behavioral Symptoms
|
|
0.010 |
GeneticVariation
|
BEFREE |
R406W homozygotes had an earlier age at onset and a higher frequency of behavioral symptoms and Parkinsonism than heterozygotes.
|
29370822 |
2018 |
|
Memory Loss
|
|
0.010 |
GeneticVariation
|
BEFREE |
MAPT p.R406W carriers present clinically with progressive memory loss and neuropathologically with neuronal and glial tauopathy.
|
30546007 |
2018 |
|
Frontotemporal Lobar Degeneration
|
|
0.010 |
GeneticVariation
|
BEFREE |
Ten FTLD-tau cases with a MAPT mutation (K257T, S305S, P301L, IVS10+16, R406W) were screened for the core differentiating neuropathological features used to diagnose the different sporadic FTLD-tau subtypes to determine whether the categorical separation of MAPT mutations from sporadic FTLD-tau is valid.
|
29253099 |
2018 |
|
Amnesia
|
|
0.010 |
GeneticVariation
|
BEFREE |
MAPT p.R406W carriers present clinically with progressive memory loss and neuropathologically with neuronal and glial tauopathy.
|
30546007 |
2018 |
|
Tauopathies
|
|
0.070 |
GeneticVariation
|
BEFREE |
To evaluate whether tauopathies alter the GABAergic SHP, we analyzed transgenic mice expressing human mutated Tau (mutations G272V, P301L, and R406W, VLW transgenic strain).
|
27743524 |
2017 |
|
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 |
|
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 |
|
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 |