|
Frontotemporal dementia
|
|
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 |
|
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 |
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 |
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 |
|
Frontotemporal dementia
|
|
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 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
The soluble fractalkine overexpression with adenoviral vectors reduced tau pathology and prevented neurodegeneration in a Tg4510 model of taupathy Finally, animals with Aβ (1-42) infused by lentivirus (cortex) or mice with the P301L mutation (frontotemporal dementia) had caspase-3 activation (8-fold) and higher proinflammatory TNF alpha levels and p-Tau deposits at 4 weeks postinfusion.
|
26567742 |
2016 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient.
|
27439681 |
2016 |
|
Frontotemporal dementia
|
|
0.900 |
CausalMutation
|
CLINVAR |
We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient.
|
27439681 |
2016 |
|
Frontotemporal dementia
|
|
0.900 |
CausalMutation
|
CLINVAR |
Hyperactivity with Agitative-Like Behavior in a Mouse Tauopathy Model.
|
26519432 |
2016 |
|
Frontotemporal dementia
|
|
0.900 |
CausalMutation
|
CLINVAR |
Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients with MAPT mutations.
|
26220942 |
2015 |
|
Frontotemporal dementia
|
|
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 |
|
Frontotemporal dementia
|
|
0.900 |
CausalMutation
|
CLINVAR |
Investigating degeneration of the retina in young and aged tau P301L mice.
|
25592136 |
2015 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant senile dementia (TPSD; n = 5), Pick disease (n = 4), familial AD (FAD; n = 2; PSEN1 p.G206A and p.S170P), and frontotemporal dementia with parkinsonism linked to chromosome-17 (FTDP-17; n = 2; MAPT p.P301L and IVS10 + 16).
|
23885714 |
2013 |
|
Frontotemporal dementia
|
|
0.900 |
CausalMutation
|
CLINVAR |
Genotype-specific differences between mouse CNS stem cell lines expressing frontotemporal dementia mutant or wild type human tau.
|
22723997 |
2012 |
|
Frontotemporal dementia
|
|
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 |
|
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 |
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 |
CausalMutation
|
CLINVAR |
Age-related impairment of ultrasonic vocalization in Tau.P301L mice: possible implication for progressive language disorders.
|
22022446 |
2011 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
|
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 |
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 |
We also examined postural sway in mice expressing mutations that mimic frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17) (T-279, P301L or P301L-nitric oxide synthase 2 (NOS2)(-/-) mice) and that demonstrate motor symptoms.
|
17764851 |
2007 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Their formation has been reproduced in transgenic mice, which express the FTDP-17-associated mutation P301L of tau.
|
16879631 |
2006 |
|
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 |
Transgenic mice expressing the FTDP-17 mutation P301L of tau recapitulate key features of the human pathology, that is, tau proteins aggregate and neurofibrillary tangles begin to appear in the amygdala at 6 months of age.
|
15056457 |
2004 |