| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Ranjie Xu, Yanru J. Basic Science and Pathogenesis. Alzheimer's & dementia : the journal of the Alzheimer's Association. vol 20 Suppl 1. 2025-01-03. PMID:39751569. |
these models often carry the app and psen gene mutations from familial ad patients, or introduce microtubule-associated protein tau (mapt) mutations, which can cause frontotemporal dementia but are not linked to ad. |
2025-01-03 |
2025-01-05 |
Not clear |
| E V Grigor'eva, A A Malakhova, E S Yarkova, J M Minina, Y V Vyatkin, J A Nadtochy, E A Khabarova, J A Rzaev, S P Medvedev, S M Zakia. Generation and characterization of two induced pluripotent stem cell lines (ICGi052-A and ICGi052-B) from a patient with frontotemporal dementia with parkinsonism-17 associated with the pathological variant c.2013T>G in the MAPT gene. Vavilovskii zhurnal genetiki i selektsii. vol 28. issue 7. 2024-12-26. PMID:39722675. |
generation and characterization of two induced pluripotent stem cell lines (icgi052-a and icgi052-b) from a patient with frontotemporal dementia with parkinsonism-17 associated with the pathological variant c.2013t>g in the mapt gene. |
2024-12-26 |
2024-12-29 |
human |
| E V Grigor'eva, A A Malakhova, E S Yarkova, J M Minina, Y V Vyatkin, J A Nadtochy, E A Khabarova, J A Rzaev, S P Medvedev, S M Zakia. Generation and characterization of two induced pluripotent stem cell lines (ICGi052-A and ICGi052-B) from a patient with frontotemporal dementia with parkinsonism-17 associated with the pathological variant c.2013T>G in the MAPT gene. Vavilovskii zhurnal genetiki i selektsii. vol 28. issue 7. 2024-12-26. PMID:39722675. |
the inherited form of frontotemporal dementia can be caused by mutations in several genes, including the mapt gene on chromosome 17, which encodes the tau protein. |
2024-12-26 |
2024-12-29 |
human |
| E V Grigor'eva, A A Malakhova, E S Yarkova, J M Minina, Y V Vyatkin, J A Nadtochy, E A Khabarova, J A Rzaev, S P Medvedev, S M Zakia. Generation and characterization of two induced pluripotent stem cell lines (ICGi052-A and ICGi052-B) from a patient with frontotemporal dementia with parkinsonism-17 associated with the pathological variant c.2013T>G in the MAPT gene. Vavilovskii zhurnal genetiki i selektsii. vol 28. issue 7. 2024-12-26. PMID:39722675. |
analysis of exome sequencing data from a 46-year-old patient with a clinical diagnosis of parkinson's disease revealed the presence of the pathological variant c.2013t>g (rs63750756) in the mapt gene, which is associated with frontotemporal dementia with parkinsonism-17. |
2024-12-26 |
2024-12-29 |
human |
| C Alexander Sandhof, Heide F B Murray, M Catarina Silva, Stephen J Haggart. Targeted protein degradation with bifunctional molecules as a novel therapeutic modality for Alzheimer's disease & beyond. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 2024-12-05. PMID:39638711. |
moreover, the accumulation of pathological tau proteoforms in the brain concurring with disease progression is a key feature of multiple neurodegenerative diseases, called tauopathies, like frontotemporal dementia (ftd) where autosomal dominant mutations in the tau encoding mapt gene provide clear evidence of a causal role for tau dysfunction. |
2024-12-05 |
2024-12-08 |
Not clear |
| Owen Dando, Robert McGeachan, Jamie McQueen, Paul Baxter, Nathan Rockley, Hannah McAlister, Adharsh Prasad, Xin He, Declan King, Jamie Rose, Phillip B Jones, Jane Tulloch, Siddharthan Chandran, Colin Smith, Giles Hardingham, Tara L Spires-Jone. Synaptic gene expression changes in frontotemporal dementia due to the MAPT 10 + 16 mutation. Neuropathology and applied neurobiology. vol 50. issue 4. 2024-08-21. PMID:39164997. |
synaptic gene expression changes in frontotemporal dementia due to the mapt 10 + 16 mutation. |
2024-08-21 |
2024-08-23 |
Not clear |
| Owen Dando, Robert McGeachan, Jamie McQueen, Paul Baxter, Nathan Rockley, Hannah McAlister, Adharsh Prasad, Xin He, Declan King, Jamie Rose, Phillip B Jones, Jane Tulloch, Siddharthan Chandran, Colin Smith, Giles Hardingham, Tara L Spires-Jone. Synaptic gene expression changes in frontotemporal dementia due to the MAPT 10 + 16 mutation. Neuropathology and applied neurobiology. vol 50. issue 4. 2024-08-21. PMID:39164997. |
mutations in the mapt gene encoding tau protein can cause autosomal dominant neurodegenerative tauopathies including frontotemporal dementia (often with parkinsonism). |
2024-08-21 |
2024-08-23 |
Not clear |
| Owen Dando, Robert McGeachan, Jamie McQueen, Paul Baxter, Nathan Rockley, Hannah McAlister, Adharsh Prasad, Xin He, Declan King, Jamie Rose, Phillip B Jones, Jane Tulloch, Siddharthan Chandran, Colin Smith, Giles Hardingham, Tara L Spires-Jone. Synaptic gene expression changes in frontotemporal dementia due to the MAPT 10 + 16 mutation. Neuropathology and applied neurobiology. vol 50. issue 4. 2024-08-21. PMID:39164997. |
in this study, we examined post-mortem brain tissue from people who died with frontotemporal dementia with tau pathology (ftdtau) caused by the mapt intronic exon 10 + 16 mutation, which increases splice variants containing exon 10 resulting in higher levels of tau with four microtubule-binding domains. |
2024-08-21 |
2024-08-23 |
Not clear |
| Anukool A Bhopatkar, Nemil Bhatt, Md Anzarul Haque, Rhea Xavier, Leiana Fung, Cynthia Jerez, Rakez Kaye. MAPT mutations associated with familial tauopathies lead to formation of conformationally distinct oligomers that have cross-seeding ability. Protein science : a publication of the Protein Society. vol 33. issue 9. 2024-08-15. PMID:39145409. |
mutations within the mapt gene that encodes the tau protein form the genetic backdrop for familial forms of tauopathies, such as frontotemporal dementia (ftd), but the molecular consequences of such alterations and their pathological effects are unclear. |
2024-08-15 |
2024-08-17 |
Not clear |
| Qijun Li, Hang Li, Zhaoxia Huang, Yanfeng Li, Ruixue Cu. A Peculiar Tau Accumulation Pattern Identified Via 18F-Florzolotau PET Imaging in a Patient With Frontotemporal Dementia Caused by a Mutation in the MAPT Gene. Clinical nuclear medicine. 2024-07-16. PMID:39010313. |
a peculiar tau accumulation pattern identified via 18f-florzolotau pet imaging in a patient with frontotemporal dementia caused by a mutation in the mapt gene. |
2024-07-16 |
2024-07-18 |
Not clear |
| Qijun Li, Hang Li, Zhaoxia Huang, Yanfeng Li, Ruixue Cu. A Peculiar Tau Accumulation Pattern Identified Via 18F-Florzolotau PET Imaging in a Patient With Frontotemporal Dementia Caused by a Mutation in the MAPT Gene. Clinical nuclear medicine. 2024-07-16. PMID:39010313. |
we reported imaging findings with a peculiar tau accumulation pattern in a 56 year-old woman with frontotemporal dementia caused by q351r mutation in the microtubule-associated protein tau (mapt) gene. |
2024-07-16 |
2024-07-18 |
Not clear |
| Qijun Li, Hang Li, Zhaoxia Huang, Yanfeng Li, Ruixue Cu. A Peculiar Tau Accumulation Pattern Identified Via 18F-Florzolotau PET Imaging in a Patient With Frontotemporal Dementia Caused by a Mutation in the MAPT Gene. Clinical nuclear medicine. 2024-07-16. PMID:39010313. |
multitracer imaging can help differentiate between alzheimer disease and frontotemporal dementia caused by mapt mutation. |
2024-07-16 |
2024-07-18 |
Not clear |
| 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 |