MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 Biomarker disease BEFREE Tau protein is found to be aggregated and hyperphosphorylated (p-tau) in many neurologic disorders, including Parkinson disease (PD) and related parkinsonisms, Alzheimer disease, traumatic brain injury, and even in normal aging. 31085590 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 Biomarker disease BEFREE MAPT-AS1, a long non-coding RNA (lncRNA) existing at the anti-sense strand of the MAPT (microtubule associated protein tau) promoter region, was believed to regulate MAPT, which was associated with disease state in Parkinson's disease. 30074401 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease BEFREE Our data suggest that H1/H2 MAPT haplotype is not a risk factor to PD in our population. 30339920 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 Biomarker disease BEFREE We uncover many novel genes associated with PD but also novel mechanisms for known associations such as MAPT, for which we find that variation in exon 3 splicing explains the common genetic association. 30824768 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 Biomarker disease BEFREE AD is characterized by deposition of extracellular beta-amyloid (Aβ) proteins and intracellular neurofibrillary tangles (NFT), composed of hyperphosphorylated tau proteins in the neurons located particularly in hippocampus and cerebral cortex regions of brain, resulting the neuronal loss, while PD is characterized by deposition of intraneuronal aggregates of mostly composed of alpha-synuclein gene as Lewy bodies (LB) in the striatal region, known as substantia nigra pars compacta (SNpc) of brain, leading to the death of dopaminergic neurons. 30877973 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 Biomarker disease BEFREE The cytoplasmic microtubule associated protein tau and alpha-synuclein (αS) are found in an assembled state in Alzheimer's disease and Parkinson's disease, respectively. 31214163 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease BEFREE The MAPT H1 haplotype has been identified as a predictor of cognitive decline in Parkinson's disease (PD). 29899731 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 Biomarker disease BEFREE Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder. 29756641 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 Biomarker disease BEFREE The aggregation of NFTs, the abnormal hyperphosphorylation of tau protein, and the interaction between tau and alpha-synuclein may all contribute to the cell death and poor axonal transport observed in PD and Parkinsonism. 30333786 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease BEFREE This includes the rs541455835 variant at the MAPT locus encoding the Tau protein associated with Parkinson's disease. 29669022 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease BEFREE Five members (two symptomatic patients and three patients with a presymptomatic mutation) from the FTDP-17 pedigree were enrolled, in comparison with 9 patients with Parkinson disease (PD) and 11 control patients. 30353822 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 Biomarker disease BEFREE Pooled-DNA target sequencing of 7 major PD genes (SNCA, PARK2, PINK1, DJ-1, LRRK2, GBA, and MAPT) was performed in 562 PD cases. 29887346 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease BEFREE We assessed possible RBD (pRBD) status using the RBD screening questionnaire and investigated known susceptibility variants for Parkinson's disease located in the α-synuclein (SNCA) and tau (MAPT) gene loci in 325 Parkinson's disease patients. 29466944 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 Biomarker disease BEFREE Hyperphosphorylated tau protein is a key pathology in Alzheimer's disease (AD), frontotemporal dementia, chronic traumatic encephalopathy, and Parkinson's disease. 29914030 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease BEFREE We have analyzed NMS burden assessed through an extensive clinical and neuropsychological battery in 137 consecutive non-demented PD patients genotyped for MAPT haplotypes (H1/H1 vs H2 carriers) in order to explore the applicability of the "anatomo-clinical", "motor" or "genetic" models for subtyping PD in a clinical setting; a subsequent independent analysis was conducted to verify a possible cluster distribution of NMS. 29627019 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease BEFREE In addition to the MAPT H1 haplotype, we identified a variant near the chemokine receptor CXCR4 that was jointly associated with increased risk for PSP and PD. 29636460 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 AlteredExpression disease BEFREE Increased levels of amyloid and tau-proteins correlate with cognitive decline and may have prognostic value for cognitive deficits in PD. 26991855 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 AlteredExpression disease BEFREE This work links haplotype-specific MAPT expression with a biologically functional outcome relevant for PD. 28689993 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease BEFREE Advances in genetics have identified PD-associated mutations and variants in genes encoding various proteins affecting microtubule function including the microtubule-associated protein tau. 27600680 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease BEFREE Emerging genetic evidence indicates that in addition to the APOE*ε4 allele (an established risk factor for AD), GBA mutations and SCNA mutations and triplications are associated with cognitive decline in PD, whereas the findings are mixed for MAPT polymorphisms. 28257128 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease BEFREE We observed SNPs within the HLA, MAPT and APOE regions jointly contributing to increased risk for FTD and AD or PD. 27899424 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease BEFREE Genome wide association studies have identified microtubule associated protein tau (MAPT) H1 haplotype single nucleotide polymorphisms (SNPs) as leading common risk variants for Parkinson's disease, progressive supranuclear palsy and corticobasal degeneration. 29084565 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 GeneticVariation disease BEFREE This study demonstrated that different variants in MAPT were associated with AD (rs2471738: OR= 1.04, 95%CI = 1.00 - 1.09; H2: OR = 0.94, 95% CI = 0.91 - 0.97), PD (H2: OR = 0.76, 95% CI = 0.74 - 0.79), PSP (rs242557: OR = 1.96, 95% CI = 1.71 - 2.25; rs2471738: OR = 1.85, 95% CI = 1. 28402959 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 AlteredExpression disease BEFREE The ultra-sensitive IMR assay was applied to detect the plasma tau protein levels of subjects with prevalent neurodegenerative diseases, such as Alzheimer's disease (AD), mild cognitive impairment (MCI) due to AD, Parkinson's disease (PD), frontotemporal dementia (FTD) and vascular dementia (VD). 28839167 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.500 Biomarker disease BEFREE Abnormally phosphorylated tau protein is the key common marker in several brain diseases such as Alzheimer's disease, Parkinson`s disease, Pick Disease, Down syndrome and frontotemporal dementia and is capable of affecting synaptic events that are critical for memory formation. 27539594 2017