All Relations between Frontotemporal Dementia and mapt

Publication Sentence Publish Date Extraction Date Species
Claudia Manzoni, Demis A Kia, Raffaele Ferrari, Ganna Leonenko, Beatrice Costa, Valentina Saba, Edwin Jabbari, Manuela Mx Tan, Diego Albani, Victoria Alvarez, Ignacio Alvarez, Ole A Andreassen, Antonella Angiolillo, Andrea Arighi, Matt Baker, Luisa Benussi, Valentina Bessi, Giuliano Binetti, Daniel J Blackburn, Merce Boada, Bradley F Boeve, Sergi Borrego-Ecija, Barbara Borroni, Geir Bråthen, William S Brooks, Amalia C Bruni, Paola Caroppo, Sara Bandres-Ciga, Jordi Clarimon, Rosanna Colao, Carlos Cruchaga, Adrian Danek, Sterre Cm de Boer, Itziar de Rojas, Alfonso di Costanzo, Dennis W Dickson, Janine Diehl-Schmid, Carol Dobson-Stone, Oriol Dols-Icardo, Aldo Donizetti, Elise Dopper, Elisabetta Durante, Camilla Ferrari, Gianluigi Forloni, Francesca Frangipane, Laura Fratiglioni, Milica G Kramberger, Daniela Galimberti, Maurizio Gallucci, Pablo García-González, Roberta Ghidoni, Giorgio Giaccone, Caroline Graff, Neill R Graff-Radford, Jordan Grafman, Glenda M Halliday, Dena G Hernandez, Lena E Hjermind, John R Hodges, Guy Holloway, Edward D Huey, Ignacio Illán-Gala, Keith A Josephs, David S Knopman, Mark Kristiansen, John B Kwok, Isabelle Leber, Hampton L Leonard, Ilenia Libri, Alberto Lleo, Ian R Mackenzie, Gaganjit K Madhan, Raffaele Maletta, Marta Marquié, Ales Maver, Manuel Menendez-Gonzalez, Graziella Milan, Bruce L Miller, Christopher M Morris, Huw R Morris, Benedetta Nacmias, Judith Newton, Jørgen E Nielsen, Christer Nilsson, Valeria Novelli, Alessandro Padovani, Suvankar Pal, Florence Pasquier, Pau Pastor, Robert Perneczky, Borut Peterlin, Ronald C Petersen, Olivier Piguet, Yolande Al Pijnenburg, Annibale A Puca, Rosa Rademakers, Innocenzo Rainero, Lianne M Reus, Anna Mt Richardson, Matthias Riemenschneider, Ekaterina Rogaeva, Boris Rogelj, Sara Rollinson, Howard Rosen, Giacomina Rossi, James B Rowe, Elisa Rubino, Agustin Ruiz, Erika Salvi, Raquel Sanchez-Valle, Sigrid Botne Sando, Alexander F Santillo, Jennifer A Saxon, Johannes Cm Schlachetzki, Sonja W Scholz, Harro Seelaar, William W Seeley, Maria Serpente, Sandro Sorbi, Sabrina Sordon, Peter St George-Hyslop, Jennifer C Thompson, Christine Van Broeckhoven, Vivianna M Van Deerlin, Sven J Van der Lee, John Van Swieten, Fabrizio Tagliavini, Julie van der Zee, Arianna Veronesi, Emilia Vitale, Maria Landqvist Waldo, Jennifer S Yokoyama, Mike A Nalls, Parastoo Momeni, Andrew B Singleton, John Hardy, Valentina Escott-Pric. Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia. American journal of human genetics. 2024-06-18. PMID:38889728. genome-wide analyses reveal a potential role for the mapt, mobp, and apoe loci in sporadic frontotemporal dementia. 2024-06-18 2024-06-21 Not clear
b' Elka Stefanova, Ana Marjanovi\\xc4\\x87, Valerija Dobri\\xc4\\x8di\\xc4\\x87, Gorana Mandi\\xc4\\x87-Stojmenovi\\xc4\\x87, Tanja Stojkovi\\xc4\\x87, Marija Brankovi\\xc4\\x87, Maksim \\xc5\\xa0ar\\xc4\\x8devi\\xc4\\x87, Ivana Novakovi\\xc4\\x87, Vladimir S Kosti\\xc4\\x8. Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center. Neurogenetics. 2024-06-07. PMID:38847891.' most of the heritability in frontotemporal dementia (ftd) is accounted for by autosomal dominant hexanucleotide expansion in the chromosome 9 open reading frame 72 (c9orf72), pathogenic/likely pathogenic variants in progranulin (grn), and microtubule-associated protein tau (mapt) genes. 2024-06-07 2024-06-10 human
Hiroyuki Morino, Takashi Kurashige, Yukiko Matsuda, Maiko Ono, Naruhiko Sahara, Tomohiro Miyasaka, Yoshiyuki Soeda, Hitoshi Shimada, Yu Yamazaki, Tetsuya Takahashi, Yuishin Izumi, Hidefumi Ito, Hirofumi Maruyama, Makoto Higuchi, Koji Arihiro, Tetsuya Suhara, Akihiko Takashima, Hideshi Kawakam. Clinical and Pathological Features of FTDP-17 with MAPT p.K298_H299insQ Mutation. Movement disorders clinical practice. 2024-04-12. PMID:38605589. mapt is a causative gene in frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17), a hereditary degenerative disease with various clinical manifestations, including progressive supranuclear palsy, corticobasal syndrome, parkinson's disease, and frontotemporal dementia. 2024-04-12 2024-04-14 Not clear
Federico Emanuele Pozzi, Vittoria Aprea, Ginevra Giovannelli, Francesca Lattuada, Cinzia Crivellaro, Francesca Bertola, Veronica Castelnovo, Elisa Canu, Massimo Filippi, Ildebrando Appollonio, Carlo Ferrarese, Federica Agosta, Lucio Tremolizz. Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation. Neurogenetics. 2024-04-09. PMID:38592608. clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the mapt p.k298e mutation. 2024-04-09 2024-04-11 Not clear
Federico Emanuele Pozzi, Vittoria Aprea, Ginevra Giovannelli, Francesca Lattuada, Cinzia Crivellaro, Francesca Bertola, Veronica Castelnovo, Elisa Canu, Massimo Filippi, Ildebrando Appollonio, Carlo Ferrarese, Federica Agosta, Lucio Tremolizz. Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation. Neurogenetics. 2024-04-09. PMID:38592608. we present an in-depth clinical and neuroimaging analysis of a family carrying the mapt k298e mutation associated with frontotemporal dementia (ftd). 2024-04-09 2024-04-11 Not clear
Christiane Hartmann, Marie Anskat, Marc Ehrlich, Jared Sterneckert, Arun Pal, Andreas Herman. MAPT Mutations V337M and N297K Alter Organelle Trafficking in Frontotemporal Dementia Patient-Specific Motor Neurons. Biomedicines. vol 12. issue 3. 2024-03-28. PMID:38540253. mapt mutations v337m and n297k alter organelle trafficking in frontotemporal dementia patient-specific motor neurons. 2024-03-28 2024-03-30 Not clear
Carol Dobson-Stone, Boris Guennewig, Hamish Mundell, John B Kwo. Detecting and Validating MAPT Mutations in Neurodegeneration Patients and Analysis of Exon Splicing Consequences. Methods in molecular biology (Clifton, N.J.). vol 2754. 2024-03-21. PMID:38512679. mutation of mapt has been observed in patients with parkinsonism, progressive supranuclear palsy, and corticobasal degeneration and is a significant cause of frontotemporal dementia. 2024-03-21 2024-03-24 Not clear
Giorgi Margvelani, Justin R Welden, Andrea Arizaca Maquera, Jennifer E Van Eyk, Christopher Murray, Sandra C Miranda Sardon, Stefan Stam. Influence of FTDP-17 mutants on circular tau RNAs. Biochimica et biophysica acta. Molecular basis of disease. 2024-01-29. PMID:38286213. at least 53 mutations in the microtubule associated protein tau gene (mapt) have been identified that cause frontotemporal dementia. 2024-01-29 2024-02-01 human
Michel Goedert, R Anthony Crowther, Sjors H W Scheres, Maria Grazia Spillantin. Tau and neurodegeneration. Cytoskeleton (Hoboken, N.J.). 2023-12-14. PMID:38073060. in 1998, mutations in mapt, the gene that encodes tau, were identified as the cause of a dominantly inherited form of frontotemporal dementia with abundant filamentous tau inclusions. 2023-12-14 2023-12-17 human
Giorgi Margvelani, Justin R Welden, Andrea Arizaca Maquera, Jennifer E Van Eyk, Christopher Murray, Sandra C Miranda Sardon, Stefan Stam. Influence of FTDP-17 mutants on circular Tau RNAs. bioRxiv : the preprint server for biology. 2023-10-03. PMID:37786725. at least 53 mutations in the microtubule associated protein tau gene (mapt) have been identified that cause frontotemporal dementia. 2023-10-03 2023-10-07 human
Camilla Ferrari, Assunta Ingannato, Sabrina Matà, Silvia Ramat, Luca Caremani, Silvia Bagnoli, Valentina Bessi, Sandro Sorbi, Benedetta Nacmia. Parkinson-ALS with a novel MAPT variant. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 2023-09-21. PMID:37730935. the 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). 2023-09-21 2023-10-07 Not clear
Kohji Mori, Kazue Shigenobu, Goichi Beck, Ryota Uozumi, Yuto Satake, Maki Suzuki, Shizuko Kondo, Shiho Gotoh, Yuki Yonenobu, Makiko Kawai, Yuki Suzuki, Yuko Saito, Eiichi Morii, Masato Hasegawa, Hideki Mochizuki, Shigeo Murayama, Manabu Iked. A heterozygous splicing variant IVS9-7A > T in intron 9 of the MAPT gene in a patient with right-temporal variant frontotemporal dementia with atypical 4 repeat tauopathy. Acta neuropathologica communications. vol 11. issue 1. 2023-08-10. PMID:37563653. a heterozygous splicing variant ivs9-7a > t in intron 9 of the mapt gene in a patient with right-temporal variant frontotemporal dementia with atypical 4 repeat tauopathy. 2023-08-10 2023-08-16 Not clear
Kohji Mori, Kazue Shigenobu, Goichi Beck, Ryota Uozumi, Yuto Satake, Maki Suzuki, Shizuko Kondo, Shiho Gotoh, Yuki Yonenobu, Makiko Kawai, Yuki Suzuki, Yuko Saito, Eiichi Morii, Masato Hasegawa, Hideki Mochizuki, Shigeo Murayama, Manabu Iked. A heterozygous splicing variant IVS9-7A > T in intron 9 of the MAPT gene in a patient with right-temporal variant frontotemporal dementia with atypical 4 repeat tauopathy. Acta neuropathologica communications. vol 11. issue 1. 2023-08-10. PMID:37563653. here we describe a japanese case of right temporal variant frontotemporal dementia with novel heterozygous mapt mutation adenine to thymidine in intervening sequence (ivs) 9 at position -7 from 3' splicing site of intron 9/exon 10 boundary (mapt ivs9-7a > t). 2023-08-10 2023-08-16 Not clear
Kohji Mori, Kazue Shigenobu, Goichi Beck, Ryota Uozumi, Yuto Satake, Maki Suzuki, Shizuko Kondo, Shiho Gotoh, Yuki Yonenobu, Makiko Kawai, Yuki Suzuki, Yuko Saito, Eiichi Morii, Masato Hasegawa, Hideki Mochizuki, Shigeo Murayama, Manabu Iked. A heterozygous splicing variant IVS9-7A > T in intron 9 of the MAPT gene in a patient with right-temporal variant frontotemporal dementia with atypical 4 repeat tauopathy. Acta neuropathologica communications. vol 11. issue 1. 2023-08-10. PMID:37563653. these data strongly suggest that the mapt ivs9-7 a > t variant found in our case is a novel mutation that stimulates the inclusion of exon 10 through alternative splicing of mapt transcript and causes predominant 4 repeat tauopathy which clinically presents as right temporal variant frontotemporal dementia. 2023-08-10 2023-08-16 Not clear
Manuel Schweighauser, Holly J Garringer, Therése Klingstedt, K Peter R Nilsson, Masami Masuda-Suzukake, Jill R Murrell, Shannon L Risacher, Ruben Vidal, Sjors H W Scheres, Michel Goedert, Bernardino Ghetti, Kathy L Newel. Mutation ∆K281 in MAPT causes Pick's disease. Acta neuropathologica. 2023-06-23. PMID:37351604. two siblings with deletion mutation ∆k281 in mapt developed frontotemporal dementia. 2023-06-23 2023-08-14 Not clear
Aurélie Bussy, Jake P Levy, Tristin Best, Raihaan Patel, Lani Cupo, Tim Van Langenhove, Jørgen E Nielsen, Yolande Pijnenburg, Maria Landqvist Waldö, Anne M Remes, Matthias L Schroeter, Isabel Santana, Florence Pasquier, Markus Otto, Adrian Danek, Johannes Levin, Isabelle Le Ber, Rik Vandenberghe, Matthis Synofzik, Fermin Moreno, Alexandre de Mendonça, Raquel Sanchez-Valle, Robert Laforce, Tobias Langheinrich, Alexander Gerhard, Caroline Graff, Chris R Butler, Sandro Sorbi, Lize Jiskoot, Harro Seelaar, John C van Swieten, Elizabeth Finger, Maria Carmela Tartaglia, Mario Masellis, Pietro Tiraboschi, Daniela Galimberti, Barbara Borroni, James B Rowe, Martina Bocchetta, Jonathan D Rohrer, Gabriel A Devenyi, M Mallar Chakravarty, Simon Ducharm. Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia. Human brain mapping. 2023-03-10. PMID:36895129. recent studies have reported early cerebellar and subcortical impact in the disease progression of genetic frontotemporal dementia (ftd) due to microtubule-associated protein tau (mapt), progranulin (grn) and chromosome 9 open reading frame 72 (c9orf72). 2023-03-10 2023-08-14 human
Hong-Rong Cheng, Rong-Rong Lin, Hong-Lei Li, Yan-Yan Xue, Pei-Rong Gao, Dian-Fu Chen, Qing-Qing Tao, Zhi-Ying W. Identification and functional characterization of novel variants of MAPT and GRN in Chinese patients with frontotemporal dementia. Neurobiology of aging. 2023-01-14. PMID:36641371. identification and functional characterization of novel variants of mapt and grn in chinese patients with frontotemporal dementia. 2023-01-14 2023-08-14 Not clear
Aitana Sogorb-Esteve, Johanna Nilsson, Imogen J Swift, Carolin Heller, Martina Bocchetta, Lucy L Russell, Georgia Peakman, Rhian S Convery, John C van Swieten, Harro Seelaar, Barbara Borroni, Daniela Galimberti, Raquel Sanchez-Valle, Robert Laforce, Fermin Moreno, Matthis Synofzik, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Rik Vandenberghe, Elizabeth Finger, Fabrizio Tagliavini, Isabel Santana, Chris R Butler, Simon Ducharme, Alexander Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Sandro Sorbi, Isabelle Le Ber, Florence Pasquier, Johan Gobom, Ann Brinkmalm, Kaj Blennow, Henrik Zetterberg, Jonathan D Rohre. Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia. Alzheimer's research & therapy. vol 14. issue 1. 2022-08-31. PMID:36045450. approximately a third of frontotemporal dementia (ftd) is genetic with mutations in three genes accounting for most of the inheritance: c9orf72, grn, and mapt. 2022-08-31 2023-08-14 Not clear
Stella M K Glasauer, Susan K Goderie, Jennifer N Rauch, Elmer Guzman, Morgane Audouard, Taylor Bertucci, Shona Joy, Emma Rommelfanger, Gabriel Luna, Erica Keane-Rivera, Steven Lotz, Susan Borden, Aaron M Armando, Oswald Quehenberger, Sally Temple, Kenneth S Kosi. Human tau mutations in cerebral organoids induce a progressive dyshomeostasis of cholesterol. Stem cell reports. 2022-08-19. PMID:35985329. mutations in the mapt gene that encodes tau lead to frontotemporal dementia (ftd) with pathology evident in both cerebral neurons and glia. 2022-08-19 2023-08-14 human
Suzanne S M Miedema, Merel O Mol, Frank T W Koopmans, David C Hondius, Pim van Nierop, Kevin Menden, Christina F de Veij Mestdagh, Jeroen van Rooij, Andrea B Ganz, Iryna Paliukhovich, Shamiram Melhem, Ka Wan Li, Henne Holstege, Patrizia Rizzu, Ronald E van Kesteren, John C van Swieten, Peter Heutink, August B Smi. Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia. Acta neuropathologica communications. vol 10. issue 1. 2022-07-07. PMID:35799292. distinct cell type-specific protein signatures in grn and mapt genetic subtypes of frontotemporal dementia. 2022-07-07 2023-08-14 Not clear