|
rs63751273
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Frontotemporal dementia: impact of P301L tau mutation on a healthy carrier.
|
15489396 |
2004 |
|
rs63751273
|
|
|
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 |
|
rs63751273
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)
|
10219785 |
1999 |
|
rs63751273
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Age-related impairment of ultrasonic vocalization in Tau.P301L mice: possible implication for progressive language disorders.
|
22022446 |
2011 |
|
rs63751273
|
|
|
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 |
|
rs63751273
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Among MAPT mutations, p.P301L is the most frequently associated to different phenotypes: (1) aggressive, symmetrical, and early-onset Parkinsonism; (2) late parkinsonism associated with FTD; and (3) progressive supranuclear palsy but only exceptionally it is reported associated to CBS.
|
28268100 |
2017 |
|
rs63751273
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.
|
9641683 |
1998 |
|
rs63751273
|
|
|
0.900 |
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 |
|
rs63751273
|
|
|
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 |
|
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 |
|
rs63751273
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients with MAPT mutations.
|
26220942 |
2015 |
|
rs63751273
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
|
rs63751273
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Forebrain-specific over-expression of human tau(P301L), a mutation associated with frontotemporal dementia with parkinsonism linked to chromosome 17, in rTg4510 mice results in the formation of NFTs, learning and memory impairment and massive neuronal death.
|
22027994 |
2012 |
|
rs63751273
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Functional characterization of FTDP-17 tau gene mutations through their effects on Xenopus oocyte maturation.
|
11756436 |
2002 |
|
rs63751273
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Genotype-specific differences between mouse CNS stem cell lines expressing frontotemporal dementia mutant or wild type human tau.
|
22723997 |
2012 |
|
rs63751273
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Hyperactivity with Agitative-Like Behavior in a Mouse Tauopathy Model.
|
26519432 |
2016 |
|
rs63751273
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Investigating degeneration of the retina in young and aged tau P301L mice.
|
25592136 |
2015 |
|
rs63751273
|
|
|
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 |
|
rs63751273
|
|
|
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 |
|
rs63751273
|
|
|
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 |
|
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 |
|
rs63751273
|
|
|
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 |
|
rs63751273
|
|
|
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 |
|
rs63751273
|
|
|
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 |
|
rs63751273
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
The Human Tau Interactome: Binding to the Ribonucleoproteome, and Impaired Binding of the Proline-to-Leucine Mutant at Position 301 (P301L) to Chaperones and the Proteasome.
|
26269332 |
2015 |