The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features.
about
LRRK2 phosphorylates novel tau epitopes and promotes tauopathyFrontotemporal lobar degeneration: old knowledge and new insight into the pathogenetic mechanisms of tau mutationsTDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPTTau mutant A152T, a risk factor for FTD/PSP, induces neuronal dysfunction and reduced lifespan independently of aggregation in a C. elegans Tauopathy modelAge-dependent neuroinflammation and cognitive decline in a novel Ala152Thr-Tau transgenic mouse model of PSP and AD.A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations.The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristicsStem cell models of Alzheimer's disease: progress and challenges.The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.A network of RNA and protein interactions in Fronto Temporal Dementia.Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies.Amyloid in dementia associated with familial FTLD: not an innocent bystander.Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort.Expression of A152T human tau causes age-dependent neuronal dysfunction and loss in transgenic mice.The Tau/A152T mutation, a risk factor for frontotemporal-spectrum disorders, leads to NR2B receptor-mediated excitotoxicity.Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease.MMP-9 and MMP-2 Contribute to Neuronal Cell Death in iPSC Models of Frontotemporal Dementia with MAPT Mutations.Genetic correction of tauopathy phenotypes in neurons derived from human induced pluripotent stem cellsNovel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration.Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxerA152T tau allele causes neurodegeneration that can be ameliorated in a zebrafish model by autophagy induction.Review: Induced pluripotent stem cell models of frontotemporal dementia.Visual signs and symptoms of corticobasal degeneration.Molecular Genetics of Neurodegenerative Dementias.Propagation of Tau aggregates.Human iPSC-Derived Neuronal Model of Tau-A152T Frontotemporal Dementia Reveals Tau-Mediated Mechanisms of Neuronal Vulnerability.Stabilizing the Hsp70-Tau Complex Promotes Turnover in Models of TauopathyMAPT H1 Haplotype is Associated with Late-Onset Alzheimer's Disease Risk in APOEɛ4 Noncarriers: Results from the Dementia Genetics Spanish Consortium.Multiple system atrophy: genetic risks and alpha-synuclein mutations.TDP-43 pathology is present in most post-encephalitic parkinsonism brains.Tau-Induced Pathology in Epilepsy and Dementia: Notions from Patients and Animal Models.
P2860
Q24338188-7F07AFBD-A56D-48B5-801C-BBE3E8015284Q26777247-6C11CD7C-131B-46EF-96D7-0A8A60B09D7EQ26851112-A06214A0-E5C0-48E1-A328-E3FE8169CBE9Q27301090-52013594-BB73-4D47-B22F-A0615B3D8ACFQ27317039-11F615D3-895E-4606-856E-9CF336246C47Q30628518-8BB40F55-0CA7-475A-AB86-47BFCF65CA83Q33778423-055CE44A-096F-452B-A38B-BA4C3F52FCA5Q33796378-E7E35ACD-6FFE-40B8-8751-8E5396A5B0A9Q34336776-18A1A5EB-E34A-4780-B2EC-F68C28C9CADFQ35064245-8A364E0C-05EA-4C19-A71C-A2C36288090BQ35194634-99C8DF91-FEBA-4657-A0D6-EA022B87FF31Q36300071-9383D647-B292-48C2-8152-D852425FEBE1Q36327682-781662BD-CB3C-4973-AF0C-945B401435E5Q36424866-952048D1-46E9-404E-B12F-06DAFDACEB8AQ36759553-D71E1311-8E0A-4814-B0B4-B02962E7C6CEQ36759557-A05B8DDE-8274-49F4-A651-647F629206D0Q37228684-4F018F28-742F-4731-8EBB-B122ECC71356Q37274907-16E894AF-2E88-4247-BAC7-81037126D308Q37360904-002323A1-18E3-4641-8D4F-5E9DE704984EQ37619559-B8430E0C-A40E-485A-8257-80BA44AFA2DDQ37717308-C5974B23-3CB0-46FD-B5BD-80BEFC745B99Q37739890-AF59F681-3933-40B6-B1A4-6931C51336B0Q38862587-022046AD-A485-4A64-A95C-D4B1742AEFBFQ38935142-3D2B94E5-3897-4B33-B327-4BA2B47E2517Q39035458-35A2DE27-CF6B-4954-B644-683176945EB8Q39338832-57646E01-17B5-46E1-8306-3157282ACA16Q41151197-3FFE58E2-0D46-45BB-ADCC-EFF51D1DCDFFQ41493996-87EE4DF2-5B46-4B6E-B337-E7E594303740Q43339552-17373409-1B18-4D18-9AD6-80DCCE9DB99CQ47309944-E5678824-66E5-4D23-B7F7-C9FE238ED15FQ50910797-8BE0D592-11ED-449C-A84E-EEF855BF2B91Q55385303-F42DA9CE-0FC7-4D29-A3D5-52E84D4CEC27
P2860
The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
The MAPT p.A152T variant is a ...... nd neuropathological features.
@en
type
label
The MAPT p.A152T variant is a ...... nd neuropathological features.
@en
prefLabel
The MAPT p.A152T variant is a ...... nd neuropathological features.
@en
P2093
P2860
P1476
The MAPT p.A152T variant is a ...... nd neuropathological features.
@en
P2093
Alan M Pittman
Eleanna Kara
Georgia Xiromerisiou
Helen Ling
Henry Houlden
Janice L Holton
Jason D Warren
Jonathan D Rohrer
Karen Shaw
Roberto Simone
P2860
P304
2231.e7-2231.e14
P356
10.1016/J.NEUROBIOLAGING.2012.04.006
P577
2012-05-16T00:00:00Z