Results 11 to 20 of about 22,079 (225)

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, Sigrid C. Schwarz, Thomas W. Rösler, Thomas Arzberger, Steve Gentleman, Otto Windl, Mandy Krumbiegel, André Reis, Viktoria C. Ruf, Jochen Herms, Günter U. Höglinger   +10 more
doaj   +8 more sources

The effect of age and the H1c MAPT haplotype on MAPT expression in human brain

Neurobiology of Aging, 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., Cross, W., Owen, M.J., Morris, H.R., O’Donovan, M.C., Bray, N.J.   +5 more
core   +5 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, Woojin S Kim, Glenda M Halliday, Marianne Hallupp, Carol Dobson-Stone, John B J Kwok   +5 more
doaj   +2 more sources

Functional MAPT haplotypes: Bridging the gap between genotype and neuropathology

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 MIR-NAT MAPT-AS1 does not regulate Tau expression in human neurons. [PDF]

PLoS ONE
The MAPT gene encodes Tau protein, a member of the large family of microtubule-associated proteins. Tau forms large insoluble aggregates that are toxic to neurons in several neurological disorders, and neurofibrillary Tau tangles represent a key ...
Rafaela Policarpo, Leen Wolfs, Saul Martínez-Montero, Lina Vandermeulen, Ines Royaux, Gert Van Peer, Pieter Mestdagh, Bart De Strooper, Annerieke Sierksma, Constantin d'Ydewalle   +9 more
doaj   +3 more sources

Frontotemporal dementia with the V337M MAPT mutation [PDF]

Neurology, 2017
Objective: To assess the efficacy of [ 18 F]AV1451 PET in visualizing tau pathology in vivo in a patient with frontotemporal dementia (FTD) associated with the V337M microtubule-associated protein tau (MAPT) mutation.
Murray, Melissa E, Ossenkoppele, Rik, Parisi, Joseph E, Perry, David C, O'Neil, James P, Boeve, Bradley F, Seeley, William W, Miller, Bruce L, Spina, Salvatore, Jagust, William J, Boxer, Adam L, Lazaris, Andreas, Rabinovici, Gil D, Dickson, Dennis W, Rosen, Howard J, Schonhaut, Daniel R   +15 more
core   +6 more sources

What’s in a Gene? The Outstanding Diversity of MAPT [PDF]

Cells, 2022
Tau protein is a microtubule-associated protein encoded by the MAPT gene that carries out a myriad of physiological functions and has been linked to certain pathologies collectively termed tauopathies, including Alzheimer’s disease, frontotemporal dementia, Huntington’s disease, progressive supranuclear palsy, etc.
Daniel Ruiz-Gabarre, Almudena Carnero-Espejo, Jesús Ávila, Vega García-Escudero   +3 more
openaire   +4 more sources

乳腺癌生存期相关长非编码 MAPT-AS1 及其共表达基因筛选与验证 [PDF]

Zhongshan Daxue xuebao. Yixue kexue ban, 2019
【目的】筛选乳腺癌患者生存期相关差异表达长链非编码RNA（lncRNA）及其共表达基因，并验证其乳腺癌细胞中的表达情况。【方法】通过TCGA数据库筛选943例RNA-seq数据信息：（837例乳腺癌患者+106例正常对照），发现长非编码MAPT-AS1高表达，乳腺癌患者生存期更长。构建长非编码MAPT-AS1过表达和干扰质粒，将构建好的质粒转染乳腺癌细胞株T47D，并用嘌呤霉素筛选出稳定表达的T47D细胞株，通过RT-qPCR验证长非编码MAPT-AS1及其共表达基因的表达情况。【结果 ...
许家瑞, 刘冬冬, 李贝贝, 陈梦麟, 黄凯铃, 郑周霞, 徐建华   +6 more
doaj   +1 more source

Implicación de los genes MAPT y PGRN en la degeneración lobar frontotemporal: mecanismos patgénicos y expresión fenotípica. [PDF]

, 2008
[spa] Este trabajo se centra en el estudio de la implicación de los genes MAPT y PGRN en la degeneración lobar frontotemporal (DLFT). Se describen 2 nuevas mutaciones en estos genes (P301T en el gen MAPT y la A303AfsX57 en el gen PGRN) y no se ...
Lladó Plarrumaní, Albert
core   +4 more sources

MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration [PDF]

, 2021
The human genome expresses thousands of natural antisense transcripts (NAT) that can regulate epigenetic state, transcription, RNA stability or translation of their overlapping genes.
Hardy, JA, Manzoni, C, Ryten, Mina, Preza, E, Kay, Victoria A., Trabzuni, Daniah, Javad, Faiza, Wray, Selina, Plagnol, Vincent, Emmett, Warren, Kia, Demis A., Wilkins, Oscar G., Svenningsson, Per, Kia, DA, Ule, J, Zuccotti, Paola, Barahona-Torres, N, Zareba-Paslawska, Justyna, Ehteramyan, M, Hondhamuni, Geshanthi, Ehteramyan, Mazdak, Preza, Elisavet, Mitchell, JS, Trabzuni, D, Wilkins, OG, Harley, Jasmine, Modelska, A, Patani, Rickie, Ferrari, Raffaele, Wray, S, Quattrone, A, Almeida, Filipa Lourenço, Lees, Andrew, Svenningsson, P, Siva, K, Manzoni, Claudia, Simone, Roberto, Virdi, GS, Zuccotti, P, Zareba-Paslawska, J, Javad, F, Siva, Kavitha, Patani, R, Warner, TT, Lees, A, Denti, MA, Simone, R, Hondhamuni, G, Pittman, A, Plagnol, V, Warner, Thomas T., Denti, Michela A., Virdi, Gurvir S., Harley, J, Emmett, W, Mitchell, Jamie S., Ule, Jernej, De Silva, R, Kay, VA, Almeida, FL, de Silva, Rohan, Hardy, John A., Pittman, Alan, Barahona-Torres, Natalia, Ryten, M, Modelska, Angelika, Ferrari, R, Quattrone, Alessandro, Zareba-Paslawska, J,   +68 more
core   +2 more sources