Results 21 to 30 of about 22,079 (225)
Parkinson-ALS with a novel MAPT variant
Neurological Sciences, 2023 AbstractThe mutations on microtubule associated protein tau (MAPT) gene manifest clinically with behavioural frontotemporal dementia (FTD), parkinsonism, such as progressive supranuclear palsy and corticobasal degeneration, and rarely with amyotrophic lateral sclerosis (ALS).Ferrari, Camilla, Ingannato, Assunta, Matà, Sabrina, Ramat, Silvia, Caremani, Luca, Bagnoli, Silvia, Bessi, Valentina, Sorbi, Sandro, Nacmias, Benedetta +8 moreopenaire +2 more sourcesAssociation of MAPT haplotypes with Alzheimer’s disease risk and MAPT brain gene expression levels [PDF]
Alzheimer's Research & Therapy, 2014 Abstract Introduction MAPT encodes for tau, the predominant component of neurofibrillary tangles that are neuropathological hallmarks of Alzheimer’s disease (AD). Genetic association of MAPT variants with late-onset AD (LOAD) risk has been inconsistent, although insufficient power and incomplete ...Allen, Mariet, Kachadoorian, Michaela, Quicksall, Zachary, Zou, Fanggeng, Chai, High, Younkin, Curtis, Crook, Julia, Pankratz, V, Carrasquillo, Minerva, Krishnan, Siddharth, Nguyen, Thuy, Ma, Li, Malphrus, Kimberly, Lincoln, Sarah, Bisceglio, Gina, Kolbert, Christopher, Jen, Jin, Mukherjee, Shubhabrata, Kauwe, John, Crane, Paul, Haines, Jonathan, Mayeux, Richard Paul, Pericak-Vance, Margaret, Farrer, Lindsay, Schellenberg, Gerard, Parisi, Joseph, Petersen, Ronald, Graff-Radford, Neill, Dickson, Dennis, Younkin, Steven, Ertekin-Taner, Nilüfer +30 moreopenaire +3 more sourcesPhenotypes associated with MAPT duplications [PDF]
Alzheimer's & Dementia, 2020 AbstractBackgroundDuplication of the 17q21.3 region, leading to increased MAPT expression, causes a rare atypical early‐onset dementia (EOD) mimicking Alzheimer’s Disease (AD) clinical presentation. Since our initial report in 2016, the same duplication has been identified in additional patients including 2 progressive supranuclear palsy (PSP) patients.David Wallon, Antoine Bonnevalle, Anne Rovelet‐Lecrux, Julien Lagarde, Marie Sarazin, Michel Bottlaender, François Sellal, Therese Jonveaux, Camille Heitz, Eloi Magnin, Isabelle Le Ber, Stéphane Epelbaum, Muriel Quillard‐Muraine, Mathieu Chastan, Didier Hannequin, Susana Boluda, Stéphane Rousseau, Anne‐Claire Richard, Olivier Quenez, Camille Charbonnier, Charles Duyckaerts, Dominique Campion, Gaël Nicolas +22 moreopenaire +1 more sourceThe novel MAPT mutation K298E:mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons [PDF]
, 2013 Frontotemporal lobar degeneration (FTLD) is the one of the most frequent neurodegenerative disorders characterized by behavioral and executive impairment, language disorders and motor dysfunction.Holton, Janice L., Tammaryn Lashley, Treacy, Rebecca, Laura Calo, Michel Goedert, Parmar, Malin,, Muqit, Miratul M. K., Janice L. Holton, Revesz, Tamas, Lashley, Tammaryn, Mariangela Iovino, Tamas Revesz, Robert J. Swingler, Pfisterer, Ulrich, Swingler, Robert J., Malin Parmar, Maria Grazia Spillantini, Calo, Laura, Ulrich Pfisterer, Miratul M. K. Muqit, Parmar, Malin, Spillantini, Maria Grazia, Iovino, Mariangela, Pfisterer, Ulrich,, Lund University., Iovino, Mariaangela, Goedert, Michel, Rebecca Treacy +27 morecore +1 more sourceMAPT mutations, tauopathy, and mechanisms of neurodegeneration [PDF]
Laboratory Investigation, 2019 In multiple neurodegenerative diseases, including Alzheimer's disease (AD), a prominent pathological feature is the aberrant aggregation and inclusion formation of the microtubule-associated protein tau. Because of the pathological association, these disorders are often referred to as tauopathies.Kevin H, Strang, Todd E, Golde, Benoit I, Giasson +2 moreopenaire +2 more sourcesRegulation of human MAPT gene expression [PDF]
Molecular Neurodegeneration, 2015 The number of known pathologies involving deregulated Tau expression/metabolism is increasing. Indeed, in addition to tauopathies, which comprise approximately 30 diseases characterized by neuronal aggregation of hyperphosphorylated Tau in brain neurons, this protein has also been associated with various other pathologies such as cancer, inclusion body Caillet-Boudin, Marie-Laure, Buée, Luc, Sergeant, Nicolas, Lefebvre, Bruno +3 moreopenaire +3 more sourcesThe 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, Gyan P Srivastava, Jamary Oliveira-Filho, Charles C White, Lei Yu, Julie A Schneider, Aron S Buchman, Joshua M Shulman, David A Bennett, Philip L De Jager +9 moredoaj +1 more sourceDissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. [PDF]
, 2010 We performed a genome-wide association study (GWAS) in 1705 Parkinson's disease (PD) UK patients and 5175 UK controls, the largest sample size so far for a PD GWAS.R. A. Barker, Z. Su, Spencer, C.C.A., Pearson, Justin P., McCarthy, Mark I, Wellcome Trust Case Control Consortium 2, Craddock, Nicholas John, Markus, Hugh S, Viswanathan, Ananth C., L. Peltonen, Hardy, J., Donnelly, P., Casas, J.-P., V. Plagnol, CORVIN, AIDEN PETER, Langford, C., Sawcer, Stephen J, Jankowski, J., Palmer, Colin N. A., E. Bramon, Edkins, Sarah, M. I. McCarthy, Peltonen, L., null null, G. Band, Craddock, Nicholas, Hudson, Gavin, Gray, E., Su, Zhan, Evans, Jonathan, Viswanathan, A.C., A. C. Viswanathan, Morrison, Karen, Mathew, Christopher G.; id_orcid, Palmer, Colin NA, Spencer, C. C., Morrison, K.E.; id_orcid, Hunt, S., Palmer, C.N.A., Wood, Nicholas W., Brown, Martin A., H. Blackburn, A. Strange, D. Burn, J. Evans, Corvin, A., P. Donnelly, Chinnery, Patrick F., Palmer, C. N., A. J. Lees, Potter, Simon, Pirinen, Matti, Trembath, Richard C, Plagnol, V., Hardy, John, McCarthy, M. I., J. P. Pearson, Morris, H. R., C. Freeman, Edkins, S., Clarke, Carl E, Blackburn, Hannah, Morris, H.R., Clarke, Carl; id_orcid, Bhatia, Kailash, Gardner, M., S. Edkins, Viswanathan, A. C., Peltonen, Leena, Burn, D., R. C. Trembath, Sawcer, Stephen J., K. Bhatia, C. Langford, Spencer, Chris CA, Strange, Amy, C. C. A. Spencer, Bellenguez, C., J. Jankowski, Freeman, C., Brown, M. A., Spencer, Chris C.A., Bhatia, K., Langford, Cordelia, Barker, R. A., Freeman, Colin, Hunt, Sarah, Clarke, Carl E., C. E. Clarke, Lees, A. J., Spencer, Chris C. A., P. F. Chinnery, Gray, Emma, Chinnery, P. F., Morris, Huw R., H. R. Morris, Paisan-Ruiz, C., Clarke, C.E., McCarthy, Mark I., Blackburn, H., Wood, N.W., Gardner, Michelle, Plagnol, Vincent, S. Potter, A. Rautanen, Wood, N. W., Evans, J., Morrison, K. E., Morrison, Karen E., Donnelly, Peter, C. Paisan-Ruiz, Chinnery, P.F., Pirinen, M., Lees, A.J., A. Corvin, Mathew, Christopher G, Su, Z., Craddock, N., Brown, Martin A, Morris, Huw Rees, Trembath, Richard C., Wood, Nicholas W, Viswanathan, Ananth C, Clarke, C. E., Burn, David, Barker, Roger A, Strange, A., Casas, J. P., C. G. Mathew, Williams, Nigel W, P. Deloukas, N. W. Williams, C. Bellenguez, UK Parkinson's Disease Consortium, Deloukas, P., Mathew, C. G., G. Hudson, Plomin, R., Spencer, Chris C A, N. W. Wood, S. Hunt, Morris, Huw R, Casas, Juan-Pablo, Barker, Roger A., Barker, Roger, Brown, Matthew A, Barker, R.A., Rautanen, Anna, Bramon, Elvira, Plomin, Robert, Jankowski, Janusz, Band, G., McCarthy, M.I., M. A. Brown, Brown, M. A, Sawcer, S.J., J. M. Blackwell, H. S. Markus, M. Gardner, Lees, Andrew J, Band, Gavin, Brown, Matthew A., Markus, H.S., Paisan-Ruiz, Coro, Rautanen, A., Williams, Nigel W., Williams, N.W., Pearson, Justin P, C. N. A. Palmer, Blackwell, J. M., Deloukas, Panos, Bellenguez, Celine, Williams, N. W., Morrison, K.E., S. J. Sawcer, Brown, M.A., Bramon, E., Trembath, R. C., Blackwell, Jennie M, Chinnery, Patrick F, Blackwell, Jennie M., Spencer, C. C. A., Markus, Hugh S., N. Craddock, Morrison, Karen E, Lees, Andrew J., Palmer, Colin N A; id_orcid, Blackwell, J.M., K. E. Morrison, Hudson, G., E. Gray, Potter, S., Palmer, C. N. A., Mathew, C.G., J.-P. Casas, J. Hardy, Williams, Nigel Melville, Pearson, J.P., R. Plomin, Pearson, J. P., Corvin, Aiden, Sawcer, S. J., M. Pirinen, Trembath, R.C., Markus, H. S. +204 morecore +2 more sourcesRetromer regulates the lysosomal clearance of MAPT/tau [PDF]
Autophagy, 2020 The macroautophagy/autophagy-lysosome axis enables the clearance and degradation of cytoplasmic components including protein aggregates, damaged organelles and invading pathogens. Protein aggregation and lysosomal system dysfunction in the brain are common features of several late-onset neurological disorders including Alzheimer disease.Julian M. Carosi, Leanne K. Hein, Mark van den Hurk, Robert Adams, Bridget Milky, Sanjna Singh, Cedric Bardy, Donna Denton, Sharad Kumar, Timothy J. Sargeant +9 moreopenaire +3 more sourcesConserved gene signatures shared among MAPT mutations reveal defects in calcium signaling
Frontiers in Molecular Biosciences, 2023 Introduction: More than 50 mutations in the MAPT gene result in heterogeneous forms of frontotemporal lobar dementia with tau inclusions (FTLD-Tau). However, early pathogenic events that lead to disease and the degree to which they are common across MAPT Miguel A. Minaya, Sidhartha Mahali, Abhirami K. Iyer, Abdallah M. Eteleeb, Rita Martinez, Guangming Huang, John Budde, Sally Temple, Alissa L. Nana, William W. Seeley, Salvatore Spina, Lea T. Grinberg, Lea T. Grinberg, Oscar Harari, Oscar Harari, Oscar Harari, Celeste M. Karch, Celeste M. Karch, Celeste M. Karch +18 moredoaj +1 more source
