Results 31 to 40 of about 22,079 (225)

Mutation ∆K281 in MAPT causes Pick’s disease

Acta Neuropathologica, 2023
AbstractTwo siblings with deletion mutation ∆K281 in MAPT developed frontotemporal dementia. At autopsy, numerous inclusions of hyperphosphorylated 3R Tau were present in neurons and glial cells of neocortex and some subcortical regions, including hippocampus, caudate/putamen and globus pallidus. The inclusions were argyrophilic with Bodian silver, but
Schweighauser, Manuel, Garringer, Holly J., Klingstedt, Therése, Nilsson, K. Peter R., Masuda‑Suzukake, Masami, Murrell, Jill R., Risacher, Shannon L., Vidal, Ruben, Scheres, Sjors H. W., Goedert, Michel, Ghetti, Bernardino, Newell, Kathy L.   +11 more
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Cancer-specific association between Tau (MAPT) and cellular pathways, clinical outcome, and drug response

Scientific Data, 2023
Tau (MAPT) is a microtubule-associated protein causing common neurodegenerative diseases or rare inherited frontotemporal lobar degenerations. Emerging evidence for non-canonical functions of Tau in DNA repair and P53 regulation suggests its involvement ...
Maurizio Callari, Martina Sola, Claudia Magrin, Andrea Rinaldi, Marco Bolis, Paolo Paganetti, Luca Colnaghi, Stéphanie Papin   +7 more
doaj   +1 more source

Experimental Disease-Modifying Agents for Frontotemporal Lobar Degeneration

Journal of Experimental Pharmacology, 2021
Marcello Giunta,1 Eino Solje,2 Fabrizio Gardoni,3 Barbara Borroni,1 Alberto Benussi1 1Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy; 2Institute of Clinical Medicine - Neurology, University of ...
Giunta M, Solje E, Gardoni F, Borroni B, Benussi A   +4 more
doaj  

Aberrant expression of the microtubule-associated protein tau is an independent prognostic feature in prostate cancer

BMC Cancer, 2019
Background Microtubule-associated protein Tau (MAPT) overexpression has been linked to poor prognosis and decreased response to taxane-based therapies in several cancer types, but its relevance in prostate cancer is unknown.
Cornelia Schroeder, Jan Grell, Claudia Hube-Magg, Martina Kluth, Dagmar Lang, Ronald Simon, Doris Höflmayer, Sarah Minner, Eike Burandt, Till S. Clauditz, Franziska Büscheck, Frank Jacobsen, Hartwig Huland, Markus Graefen, Thorsten Schlomm, Guido Sauter, Stefan Steurer   +16 more
doaj   +1 more source

MAPT p.V363I mutation [PDF]

Neurology Genetics, 2019
Patients with corticobasal syndrome (CBS) present with heterogeneous clinical features, including asymmetric parkinsonism, dyspraxia, aphasia, and cognitive impairment; to better understand the genetic etiology of this rare disease, we undertook a genetic analysis of microtubule-associated protein tau (MAPT).We performed a genetic evaluation of MAPT ...
Sarah Ahmed, Monica Diez Fairen, Marya S. Sabir, Pau Pastor, Jinhui Ding, Lourdes Ispierto, Ankur Butala, Christopher M. Morris, Claudia Schulte, Thomas Gasser, Edwin Jabbari, Olga Pletnikova, Huw R. Morris, Juan Troncoso, Ellen Gelpi, Alexander Pantelyat, Sonja W. Scholz   +16 more
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The Microtubule-Associated Protein Tau and Its Relevance for Pancreatic Beta Cells

Journal of Diabetes Research, 2016
Structural and biochemical alterations of the microtubule-associated protein tau (MAPT) are associated with degenerative disorders referred to as tauopathies. We have previously shown that MAPT is present in human islets of Langerhans, human insulinomas,
Magdalena Maj, Gregor Hoermann, Sazan Rasul, Wolfgang Base, Ludwig Wagner, Johannes Attems   +5 more
doaj   +1 more source

Mouse and Human Tau Expression in Different Brain Areas

Journal of Alzheimer's Disease Reports, 2022
Background: An increase in tau protein is believed to be necessary for tau aggregation. However, whether this is due to increased expression of the endogenous tau promoter or protein accumulation due to proteostasis failure remains uncertain.
Laura Vallés-Saiz, Daniel Ruiz-Gabarre, Vega García-Escudero, George Perry, Jesús Avila, Félix Hernández   +5 more
doaj   +1 more source

Mapt deletion fails to rescue premature lethality in two models of sodium channel epilepsy [PDF]

, 2018
Deletion of Mapt, encoding the microtubuleâ binding protein Tau, prevents disease in multiple genetic models of hyperexcitability. To investigate whether the effect of Tau depletion is generalizable across multiple sodium channel geneâ linked models of
Holth, Jerrah K., Bunton‐stasyshyn, Rosie, Anumonwo, Charles K., Isom, Lori L., Noebels, Jeffrey L., Chen, Chunling, Meisler, Miriam H.   +6 more
core   +1 more source

Evolutionary toggling of the MAPT 17q21.31 inversion region [PDF]

Nature Genetics, 2008
Using comparative sequencing approaches, we investigated the evolutionary history of the European-enriched 17q21.31 MAPT inversion polymorphism. We present a detailed, BAC-based sequence assembly of the inverted human H2 haplotype and compare it to the sequence structure and genetic variation of the corresponding 1.5-Mb region for the noninverted H1 ...
Zody MC, Jiang Z, Fung HC, ANTONACCI, FRANCESCA, Hillier LW, Cardone MF, Graves TA, Kidd JM, Cheng Z, Abouelleil A, Chen L, Wallis J, Glasscock J, Wilson RK, Reily AD, Duckworth J, VENTURA, MARIO, Hardy J, Warren WC, Eichler EE   +19 more
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Association of the MAPT locus with Parkinson’s disease [PDF]

European Journal of Neurology, 2010
Background and purpose:  Whilst an association between the tau gene (MAPT)‐containing H1 haplotype and supranuclear gaze palsy (PSP) has long been recognized, the effect of H1 on risk for Parkinson’s disease (PD) has remained more contentious.Methods:  Herein, we examined the association of H1 and PD in three Caucasian PD patient–control series from ...
C, Wider, C, Vilariño-Güell, B, Jasinska-Myga, M G, Heckman, A I, Soto-Ortolaza, S A, Cobb, J O, Aasly, J M, Gibson, T, Lynch, R J, Uitti, Z K, Wszolek, M J, Farrer, O A, Ross   +12 more
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