MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Presenile dementia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 AlteredExpression disease BEFREE Adult patients with DM1 frequently develop, with aging, a focal dementia: such findings agree with recent studies documenting an abnormal tau-protein expression in the brain tissues of patients with DM1. 15596617 2004
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 AlteredExpression disease BEFREE Another important target in AD is the neurofibrillary tangles, composed primarily of hyperphosphorylated tau proteins, which correlate well with the degree of dementia. 18953105 2008
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE Concentrations of total (both normal tau and PHF-tau) tau in CSF, clinical measures (duration and severity of dementia), and apoE polymorphism. 9527138 1998
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE Pathological hyperphosphorylation and aggregation of the tau protein is associated with dementia and can be the central cause of neurodegeneration. 21530001 2012
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE Alzheimer disease (AD) is the most common cause of dementia in the elderly, and is characterized by extracellular deposition of β-amyloid and intracellular accumulation of hyperphosphorylated tau protein in the brain. 28379416 2017
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE Alzheimer´s disease (AD) is the most common form of dementia involving Aβ and tau protein. 30388894 2020
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE Several aggregation-prone proteins such as the amyloid-beta (Aβ) peptides, tau proteins, and α-synuclein protein are involved in secondary pathogenic cascades initiated by a TBI and are also major building blocks of the hallmark pathological lesions in chronic human neurodegenerative diseases with dementia. 29933008 2019
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE Mutations in the gene MAPT encoding tau, a microtubules-associated protein, cause a subtype of familial neurodegenerative disorder, known as frontotemporal lobar degeneration tauopathy (FTLD-Tau), which presents with dementia and is characterized by atrophy in the frontal and temporal lobes of the brain. 27721502 2016
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE We tested the hypothesis that mutant tau proteins that cause neurodegeneration and dementia differentially alter kinesin translocation along microtubules (MTs) relative to normal tau in vitro. 24150109 2014
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE However, exome sequencing identified a missense mutation, N279K, in exon 10 of MAPT gene, verifying that the early parkinsonian symptoms in this family are caused by the genetic mutation for hereditary frontotemporal lobar dementia. 26295349 2015
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE We report clinical, molecular, neuroimaging and neuropathological features of a Danish family with autosomal dominant inherited dementia, a clinical phenotype resembling Alzheimer's disease and a pathogenic mutation (R406W) in the microtubule associated protein tau (MAPT) gene. 18284428 2008
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE In the early stage of AD, amyloid β-induced synapse changes is the main reason, while in the later stage, the accumulation of Tau protein promotes synapse degeneration as the key factor leading to dementia. 31060348 2019
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE Tauopathies, including Alzheimer's disease, are neurodegenerative diseases characterized by the deposition of hyperphosphorylated tau protein in the central nervous system, and are the major cause of dementia in later life. 20522014 2010
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease CTD_human Leptin reduces the accumulation of Abeta and phosphorylated tau induced by 27-hydroxycholesterol in rabbit organotypic slices. 20157255 2010
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease CTD_human Neurotoxicity induced by okadaic acid in the human neuroblastoma SH-SY5Y line can be differentially prevented by α7 and β2* nicotinic stimulation. 21715663 2011
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE A case of dementia parkinsonism resembling progressive supranuclear palsy due to mutation in the tau protein gene. 14568818 2003
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE Alzheimer's Disease (AD) is the most common type of dementia characterized by amyloid plaques containing Amyloid Beta (Aβ) peptides and neurofibrillary tangles containing tau protein. 30907317 2019
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE A mutation located in exon 10 has been identified in several FTDP-17 families that present with increased exon 10 inclusion in both mRNA and protein, parkinsonism, movement disorders, and dementia. 17715352 2007
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease CTD_human Identification of the key molecules involved in chronic copper exposure-aggravated memory impairment in transgenic mice of Alzheimer's disease using proteomic analysis. 25352456 2015
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE Taken together, the new work has shown that dysfunction of tau protein causes neurodegeneration and dementia. 10983715 2000
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE Dementia in one or more first-degree family members was found in 43% of patients and mutation analysis of the tau gene showed mutations in 34 patients (19 P301L, five L315R, four G272V, four R406W, one Delta K280 and one S320F), all with a positive family history for dementia (14% of the total population, 32% of patients with a positive family history). 12876142 2003
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE Alzheimer's disease (AD), the most common form of dementia in the elderly, is characterized by two neuropathological hallmarks: senile plaques, which are composed of Aβ peptides, and neurofibrillary tangles, which are composed of hyperphosphorylated TAU protein. 25025689 2014
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is an inherited dementia caused by tauopathy. 20178834 2010
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE Among families, the symptomatology appears to vary in quality and severity in relation to the specific Tau gene mutation and often may include parkinsonism, supranuclear palsies, and/or myoclonus, in addition to dementia. 10412802 1999
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE Frontotemporal dementia with parkinsonism (FTDP-17) is an autosomal dominant disorder that presents clinically with dementia, extrapyramidal signs, and behavioral disturbances in mid-life and progresses to death within 5 to 10 years. 10446810 1999