|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
The Pro301Leu mutation was not observed in either 50 unrelated French controls or in 11 patients with sporadic frontotemporal dementia.
|
9736786 |
1998 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Significantly, the reduction in mitochondrial complex V levels in the P301L tau mice revealed using proteomics was also confirmed as decreased in human P301L FTDP-17 (frontotemporal dementia with parkinsonism linked to chromosome 17) brains.
|
15831501 |
2005 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Mutations in the microtubule-associated protein tau, including P301L, are genetically coupled to hereditary frontotemporal dementia with parkinsonism linked to chromosome 17.
|
11013246 |
2001 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Then, we investigated if an altered tau, such as the P301L mutated protein associated with frontotemporal dementia, could produce nuclear pathology.
|
18583940 |
2008 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
We identified 2 missense mutations in exon 10: N279K and P301L in 2 Japanese patients with familial FTD.
|
11598310 |
2001 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)
|
10219785 |
1999 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Neurofibrillary pathology was produced in the brains of adult rats after localized gene transfer of human tau carrying the P301L mutation, which is associated with frontotemporal dementia with parkinsonism.
|
14695347 |
2004 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
P301L is the tau mutation most frequently observed in patients with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and this mouse model recapitulates the progressive development of glial and neurofibrillary tangles, and associated cerebral atrophy observed in patients.
|
29568692 |
2018 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
The P301L mutation is causal for frontotemporal dementia with parkinsonism-17 (FTDP-17), but it has been used for studying memory effects characteristic of AD in transgenic mice.
|
22561128 |
2012 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Frontotemporal dementia: impact of P301L tau mutation on a healthy carrier.
|
15489396 |
2004 |
|
Frontotemporal dementia
|
|
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 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17.
|
12111297 |
2002 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
The three individuals with familial history of early onset FTD and tau-positive pathology carried the P301L mutation in the MAPT gene.
|
18357425 |
2008 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Although the P301L mutation identified here has been previously described as pathogenic for frontotemporal dementia with parkinsonism-17 (FTDP-17), the proband and his two affected relatives showed different clinical symptoms from those of typical FTDP-17 cases who carry the P301L mutation.
|
21555888 |
2011 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients.
|
11115852 |
2000 |
|
Pick Disease of the Brain
|
|
0.800 |
GeneticVariation
|
BEFREE |
Frontotemporal dementia: impact of P301L tau mutation on a healthy carrier.
|
15489396 |
2004 |
|
Pick Disease of the Brain
|
|
0.800 |
GeneticVariation
|
BEFREE |
The Pro301Leu mutation was not observed in either 50 unrelated French controls or in 11 patients with sporadic frontotemporal dementia.
|
9736786 |
1998 |
|
Pick Disease of the Brain
|
|
0.800 |
GeneticVariation
|
BEFREE |
A unique common ancestor introduced P301L mutation in MAPT gene in frontotemporal dementia patients from Barcelona (Baix Llobregat, Spain).
|
31537395 |
2019 |
|
Pick Disease of the Brain
|
|
0.800 |
GeneticVariation
|
BEFREE |
Gene expression studies of cytokines and mediators of the immune response have been made in post-mortem human brain samples in AD, sPD, sporadic Creutzfeldt-Jakob disease (sCJD) subtypes MM1 and VV2, Pick's disease (PiD), progressive supranuclear palsy (PSP) and frontotemporal lobar degeneration linked to mutation P301L in MAPT Frontotemporal lobar degeneration-tau (FTLD-tau).
|
26861289 |
2016 |
|
Pick Disease of the Brain
|
|
0.800 |
GeneticVariation
|
BEFREE |
Clinicopathologic heterogeneity in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) due to microtubule-associated protein tau (MAPT) p.P301L mutation, including a patient with globular glial tauopathy.
|
27859539 |
2017 |
|
Pick Disease of the Brain
|
|
0.800 |
GeneticVariation
|
BEFREE |
Then, we investigated if an altered tau, such as the P301L mutated protein associated with frontotemporal dementia, could produce nuclear pathology.
|
18583940 |
2008 |
|
Pick Disease of the Brain
|
|
0.800 |
GeneticVariation
|
BEFREE |
A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)
|
10219785 |
1999 |
|
Pick Disease of the Brain
|
|
0.800 |
GeneticVariation
|
BEFREE |
Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17.
|
12111297 |
2002 |
|
Pick Disease of the Brain
|
|
0.800 |
GeneticVariation
|
BEFREE |
Remarkably, the P301L mutation, related to frontotemporal dementia FTDP-17, impairs this mechanism leading to a loss of function.
|
30664870 |
2019 |
|
Pick Disease of the Brain
|
|
0.800 |
GeneticVariation
|
BEFREE |
Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutations.
|
12975285 |
2003 |