Different MAPT haplotypes influence expression of total MAPT in postmortem brain tissue [PDF]
Acta Neuropathologica Communications, 2023 The MAPT gene, encoding the microtubule-associated protein tau on chromosome 17q21.31, is result of an inversion polymorphism, leading to two allelic variants (H1 and H2). Homozygosity for the more common haplotype H1 is associated with an increased risk
Christina V. Tauber +10 more
doaj +2 more sources
Role of the Long Non-Coding RNA MAPT-AS1 in Regulation of Microtubule Associated Protein Tau (MAPT) Expression in Parkinson's Disease. [PDF]
PLoS ONE, 2016 Studies investigating the pathogenic role of the microtubule associated protein tau (MAPT) gene in Parkinson's disease (PD) have indicated that DNA methylation of the promoter region is aberrant in disease, leading to dysregulated MAPT expression.
Kirsten G Coupland +5 more
doaj +3 more sources
Functional MAPT haplotypes: Bridging the gap between genotype and neuropathology [PDF]
Neurobiology of Disease, 2007 The microtubule-associated protein tau (MAPT) locus has long been associated with sporadic neurodegenerative disease, notably progressive supranuclear palsy and corticobasal degeneration, and more recently with Alzheimer’s disease and Parkinson’s disease.
Tara M. Caffrey, Richard Wade-Martins
doaj +2 more sources
The Role of MAPT Haplotype H2 and Isoform 1N/4R in Parkinsonism of Older Adults. [PDF]
PLoS ONE, 2016 Recently, we have shown that the Parkinson's disease (PD) susceptibility locus MAPT (microtubule associated protein tau) is associated with parkinsonism in older adults without a clinical diagnosis of PD.
Guilherme T Valenca +9 more
doaj +3 more sources
Genetic Architecture of MAPT Gene Region in Parkinson Disease Subtypes. [PDF]
Frontiers in Cellular Neuroscience, 2016 The microtubule-associated protein tau (MAPT) region has been conceptualized as a model of the interaction between genetics and functional disease outcomes in neurodegenerative disorders, such as Parkinson disease. Indeed, haplotype-specific differences
Esterina ePascale +12 more
doaj +5 more sources
Novel P397S MAPT variant associated with late onset and slow progressive frontotemporal dementia [PDF]
Annals of Clinical and Translational Neurology, 2019 Mutations in the MAPT gene cause frontotemporal dementia with tau deposits. We report the novel p.P397S MAPT variant in eight subjects from five apparently nonrelated families suffering from frontotemporal dementia with autosomal dominant pattern of ...
Sergi Borrego‐Écija +11 more
doaj +2 more sources
MAPT Subhaplotypes in Different Progressive Supranuclear Palsy Phenotypes [PDF]
BiomedicinesBackground: Progressive Supranuclear Palsy (PSP) is a rare neurodegenerative disorder characterized by abnormal tau protein aggregation. The MAPT gene encodes for tau protein.
Monica Gagliardi +7 more
doaj +2 more sources
Unravelling the oncogenic potential and prognostic significance of MAPT in breast cancer: An In-Silico inhibition of MAPT by paclitaxel [PDF]
Advances in Cancer Biology - MetastasisBackground: Breast cancer is the second top mortality of women globally. A major difficulty in therapeutic therapy is the disease's heterogeneity. However, modern discoveries in molecular biology and immunology have made it possible to create highly ...
Asma Jan, Shazia Sofi, Manzoor Ahmad Mir
doaj +2 more sources
The effect of age and the H1c MAPT haplotype on MAPT expression in human brain [PDF]
, 2009 The MAPT H1c haplotype is a risk factor for the neurodegenerative tauopathies progressive supranuclear palsy (PSP) and Alzheimer's disease. We hypothesise that the effect of the H1c haplotype relates to an increase in MAPT expression leading to an ...
Hayesmoore, J.B.G. +5 more
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Decrease of neuronal FKBP4/FKBP52 modulates perinuclear lysosomal positioning and MAPT/Tau behavior during MAPT/Tau-induced proteotoxic stress [PDF]
, 2021 Defects of autophagy-lysosomal protein degradation are thought to contribute to the pathogenesis of several neurodegenerative diseases, and the accumulation of aggregation prone proteins such as MAPT/Tau in Alzheimer disease (AD).
Julien Giustiniani (3123564) +8 more
core +1 more source