| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Yuxing Xia, Lith Nasif, Benoit I Giasso. Pathogenic MAPT mutations Q336H and Q336R have isoform-dependent differences in aggregation propensity and microtubule dysfunction. Journal of neurochemistry. vol 158. issue 2. 2021-11-12. PMID:33772783. |
mutations in the microtubule-associated protein tau (mapt) gene lead to familial forms of frontotemporal dementia. |
2021-11-12 |
2023-08-13 |
Not clear |
| Yuxing Xia, Lith Nasif, Benoit I Giasso. Pathogenic MAPT mutations Q336H and Q336R have isoform-dependent differences in aggregation propensity and microtubule dysfunction. Journal of neurochemistry. vol 158. issue 2. 2021-11-12. PMID:33772783. |
q336h and q336r mapt mutations also cause early onset frontotemporal dementia with pick bodies, which are mostly composed of 3r tau isoforms. |
2021-11-12 |
2023-08-13 |
Not clear |
| Ben Boyarko, Vivian Hoo. Human Tau Isoforms and Proteolysis for Production of Toxic Tau Fragments in Neurodegeneration. Frontiers in neuroscience. vol 15. 2021-11-10. PMID:34744602. |
the human tau protein is implicated in a wide range of neurodegenerative "tauopathy" diseases, consisting of alzheimer's disease (ad) and frontotemporal lobar degeneration which includes progressive supranuclear palsy, corticobasal degeneration, pick's disease, and ftld-tau (frontotemporal dementia with parkinsonism caused by mapt mutations). |
2021-11-10 |
2023-08-13 |
human |
| Chialin Cheng, Surya A Reis, Emily T Adams, Daniel M Fass, Steven P Angus, Timothy J Stuhlmiller, Jared Richardson, Hailey Olafson, Eric T Wang, Debasis Patnaik, Roberta L Beauchamp, Danielle A Feldman, M Catarina Silva, Mriganka Sur, Gary L Johnson, Vijaya Ramesh, Bruce L Miller, Sally Temple, Kenneth S Kosik, Bradford C Dickerson, Stephen J Haggart. High-content image-based analysis and proteomic profiling identifies Tau phosphorylation inhibitors in a human iPSC-derived glutamatergic neuronal model of tauopathy. Scientific reports. vol 11. issue 1. 2021-11-04. PMID:34426604. |
mutations in mapt (microtubule-associated protein tau) cause frontotemporal dementia (ftd). |
2021-11-04 |
2023-08-13 |
human |
| Linda L Restif. Unraveling the Gordian knot: genetics and the troubled road to effective therapeutics for Alzheimer's disease. Genetics. 2021-10-31. PMID:34718566. |
the discovery that mapt mutations cause frontotemporal dementia with tauopathy made it even easier to overlook the tangles in alzheimer's. |
2021-10-31 |
2023-08-13 |
mouse |
| Olga Kopach, Noemí Esteras, Selina Wray, Andrey Y Abramov, Dmitri A Rusako. Genetically engineered MAPT 10+16 mutation causes pathophysiological excitability of human iPSC-derived neurons related to 4R tau-induced dementia. Cell death & disease. vol 12. issue 8. 2021-10-11. PMID:34274950. |
we have recently described a pathophysiological phenotype of neuronal excitability of human cells derived from the patients with familial frontotemporal dementia and parkinsonism (ftdp-17) caused by the mapt 10+16 splice-site mutation. |
2021-10-11 |
2023-08-13 |
human |
| Stephanie A Chu, Taru M Flagan, Adam M Staffaroni, Lize C Jiskoot, Jersey Deng, Salvatore Spina, Liwen Zhang, Virginia E Sturm, Jennifer S Yokoyama, William W Seeley, Janne M Papma, Dan H Geschwind, Howard J Rosen, Bradley F Boeve, Adam L Boxer, Hilary W Heuer, Leah K Forsberg, Danielle E Brushaber, Murray Grossman, Giovanni Coppola, Bradford C Dickerson, Yvette M Bordelon, Kelley Faber, Howard H Feldman, Julie A Fields, Jamie C Fong, Tatiana Foroud, Ralitza H Gavrilova, Nupur Ghoshal, Neill R Graff-Radford, Ging-Yuek Robin Hsiung, Edward D Huey, David J Irwin, Kejal Kantarci, Daniel I Kaufer, Anna M Karydas, David S Knopman, John Kornak, Joel H Kramer, Walter A Kukull, Maria I Lapid, Irene Litvan, Ian R A Mackenzie, Mario F Mendez, Bruce L Miller, Chiadi U Onyike, Alexander Y Pantelyat, Rosa Rademakers, Eliana Marisa Ramos, Erik D Roberson, Maria Carmela Tartaglia, Nadine A Tatton, Arthur W Toga, Ashley Vetor, Sandra Weintraub, Bonnie Wong, Zbigniew K Wszolek, John C Van Swieten, Suzee E Le. Brain volumetric deficits in MAPT mutation carriers: a multisite study. Annals of clinical and translational neurology. vol 8. issue 1. 2021-10-08. PMID:33247623. |
mapt mutations typically cause behavioral variant frontotemporal dementia with or without parkinsonism. |
2021-10-08 |
2023-08-13 |
Not clear |
| Diana A Olszewska, Conor Fearon, Christopher McGuigan, Terri P McVeigh, Henry Houlden, James M Polke, Brian Lawlor, Robert Coen, Michael Hutchinson, Michael Hutton, Alan Beausang, Isabelle Delon, Francesca Brett, Ioanna Sevastou, Nuria Seto-Salvia, Rohan de Silva, Tim Lync. A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene. Neurobiology of aging. vol 106. 2021-09-14. PMID:34274155. |
we report the first clinical-radiological-genetic-molecular-pathological study of a kindred with c.823-10g>t mapt intronic variant (rs63749974) associated with frontotemporal dementia and parkinsonism linked to chromosome 17 (ftdp-17). |
2021-09-14 |
2023-08-13 |
Not clear |
| Ryohei Watanabe, Ito Kawakami, Takeshi Ikeuchi, Shigeo Murayama, Tetsuaki Arai, Haruhiko Akiyama, Mitsumoto Onaya, Masato Hasegaw. An autopsied FTDP-17 case with MAPT IVS 10 + 14C > T mutation presenting with frontotemporal dementia. eNeurologicalSci. vol 24. 2021-09-03. PMID:34466673. |
an autopsied ftdp-17 case with mapt ivs 10 + 14c > t mutation presenting with frontotemporal dementia. |
2021-09-03 |
2023-08-13 |
Not clear |
| Measho H Abreha, Shamsideen Ojelade, Eric B Dammer, Zachary T McEachin, Duc M Duong, Marla Gearing, Gary J Bassell, James J Lah, Allan I Levey, Joshua M Shulman, Nicholas T Seyfrie. TBK1 interacts with tau and enhances neurodegeneration in tauopathy. The Journal of biological chemistry. vol 296. 2021-08-31. PMID:33965374. |
we validated this interaction in human ad, familial frontotemporal dementia and parkinsonism linked to chromosome 17 (ftdp-17) caused by mutations in mapt (r406w & p301l) and corticobasal degeneration (cbd) postmortem brain tissues as well as human cell lines. |
2021-08-31 |
2023-08-13 |
human |
| Laura Pellegrini, Madeline A Lancaste. Modeling neurodegeneration with mutant-tau organoids. Cell. vol 184. issue 17. 2021-08-23. PMID:34416145. |
(2021) report cerebral organoids that reveal early events in frontotemporal dementia pathogenesis due to mutations in microtubule-associated protein tau (mapt), shedding light on a novel mechanism involving abnormal splicing and glutamate signaling. |
2021-08-23 |
2023-08-13 |
Not clear |
| Melanie T Gentry, Maria I Lapid, Jeremy Syrjanen, Kendrick Calvert, Samantha Hughes, Danielle Brushaber, Walter Kremers, Jessica Bove, Patrick Brannelly, Giovanni Coppola, Christina Dheel, Bradley Dickerson, Susan Dickinson, Kelley Faber, Julie Fields, Jamie Fong, Tatiana Foroud, Leah Forsberg, Ralitza Gavrilova, Deb Gearhart, Nupur Ghoshal, Jill Goldman, Jonathan Graff-Radford, Neill Graff-Radford, Murray Grossman, Dana Haley, Hilary Heuer, Ging-Yuek Hsiung, Edward Huey, David Irwin, David Jones, Lynne Jones, Kejal Kantarci, Anna Karydas, David Knopman, John Kornak, Joel Kramer, Walter Kukull, Diane Lucente, Codrin Lungu, Ian Mackenzie, Masood Manoochehri, Scott McGinnis, Bruce Miller, Rodney Pearlman, Len Petrucelli, Madeline Potter, Rosa Rademakers, Eliana Marisa Ramos, Katherine Rankin, Katya Rascovsky, Pheth Sengdy, Leslie Shaw, Nadine Tatton, Joanne Taylor, Arthur Toga, John Trojanowski, Sandra Weintraub, Bonnie Wong, Zbigniew Wszolek, Bradley F Boeve, Adam Boxer, Howard Rose. Quality of life and caregiver burden in familial frontotemporal lobar degeneration: Analyses of symptomatic and asymptomatic individuals within the LEFFTDS cohort. Alzheimer's & dementia : the journal of the Alzheimer's Association. vol 16. issue 8. 2021-08-09. PMID:32656921. |
the longitudinal evaluation of familial frontotemporal dementia subjects evaluates familial frontotemporal lobar degeneration (ftld) kindreds with mapt, grn, or c9orf72 mutations. |
2021-08-09 |
2023-08-13 |
human |
| Wonjae Sung, Young Eun Kim, Seung Hyun Ki. Hereditary Frontotemporal Dementia Linked to the Pathogenic p.L266V Variant of the MAPT Gene in Korea. Journal of clinical neurology (Seoul, Korea). vol 17. issue 3. 2021-07-07. PMID:34184459. |
hereditary frontotemporal dementia linked to the pathogenic p.l266v variant of the mapt gene in korea. |
2021-07-07 |
2023-08-13 |
Not clear |
| Lucy L Russell, Caroline V Greaves, Martina Bocchetta, Jennifer Nicholas, Rhian S Convery, Katrina Moore, David M Cash, John van Swieten, Lize Jiskoot, Fermin Moreno, Raquel Sanchez-Valle, Barbara Borroni, Robert Laforce, Mario Masellis, Maria Carmela Tartaglia, Caroline Graff, Emanuela Rotondo, Daniela Galimberti, James B Rowe, Elizabeth Finger, Matthis Synofzik, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris Butler, Alex Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Jason D Warren, Jonathan D Rohre. Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort. Cortex; a journal devoted to the study of the nervous system and behavior. vol 133. 2021-06-21. PMID:33221702. |
facial emotion recognition (fer) and faux pas (fp) recognition tests were used to study social cognition within the genetic frontotemporal dementia initiative (genfi), a large familial ftd cohort of c9orf72, grn, and mapt mutation carriers. |
2021-06-21 |
2023-08-13 |
human |
| Elena Britti, Joaquim Ros, Noemi Esteras, Andrey Y Abramo. Tau inhibits mitochondrial calcium efflux and makes neurons vulnerable to calcium-induced cell death. Cell calcium. vol 86. 2021-06-01. PMID:31918031. |
aggregation or phosphorylation of the microtubule-associated protein tau is the pathological hallmark in a number of diseases termed tauopathies, which include the most common neurodegenerative disorder, alzheimer's disease; or frontotemporal dementia, linked to mutations in the gene mapt encoding tau. |
2021-06-01 |
2023-08-13 |
Not clear |
| Elena Britti, Joaquim Ros, Noemi Esteras, Andrey Y Abramo. Tau inhibits mitochondrial calcium efflux and makes neurons vulnerable to calcium-induced cell death. Cell calcium. vol 86. 2021-06-01. PMID:31918031. |
here we studied the effect of tau on the cytosolic and mitochondrial calcium homeostasis using primary cortical cultures treated with the protein and ipsc-derived neurons bearing the 10 + 16 mapt mutation linked to frontotemporal dementia. |
2021-06-01 |
2023-08-13 |
Not clear |
| Kunie Ando, Lorenzo Ferlini, Valérie Suain, Zehra Yilmaz, Salwa Mansour, Isabelle Le Ber, Cécile Bouchard, Karelle Leroy, Alexandra Durr, Fabienne Clot, Marie Sarazin, Jean-Christophe Bier, Jean-Pierre Brio. de novo MAPT mutation G335A causes severe brain atrophy, 3R and 4R PHF-tau pathology and early onset frontotemporal dementia. Acta neuropathologica communications. vol 8. issue 1. 2021-05-31. PMID:32600421. |
de novo mapt mutation g335a causes severe brain atrophy, 3r and 4r phf-tau pathology and early onset frontotemporal dementia. |
2021-05-31 |
2023-08-13 |
Not clear |
| Chang-En Yu, Sunny Chen, Suman Jayadev, Thomas Bir. Lack of APOE Christchurch variant in five age of onset outliers with PSEN1, PSEN2 Alzheimer's disease and MAPT frontotemporal dementia. Journal of the neurological sciences. vol 418. 2021-05-14. PMID:32977230. |
lack of apoe christchurch variant in five age of onset outliers with psen1, psen2 alzheimer's disease and mapt frontotemporal dementia. |
2021-05-14 |
2023-08-13 |
human |
| Ya Su, Jiayu Fu, Jintai Yu, Qianhua Zhao, Yihui Guan, Chuantao Zuo, Ming Li, Haibo Tan, Xin Chen. Tau PET Imaging with [18F]PM-PBB3 in Frontotemporal Dementia with MAPT Mutation. Journal of Alzheimer's disease : JAD. vol 76. issue 1. 2021-05-07. PMID:32444551. |
tau pet imaging with [18f]pm-pbb3 in frontotemporal dementia with mapt mutation. |
2021-05-07 |
2023-08-13 |
Not clear |
| Jonathan D Rohrer, Adam L Boxe. The Frontotemporal Dementia Prevention Initiative: Linking Together Genetic Frontotemporal Dementia Cohort Studies. Advances in experimental medicine and biology. vol 1281. 2021-02-15. PMID:33433872. |
around one-third of frontotemporal dementia (ftd) is autosomal dominant with the major genetic causes being mutations in mapt, grn and c9orf72. |
2021-02-15 |
2023-08-13 |
human |