| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Francesco Paonessa, Lewis D Evans, Ravi Solanki, Delphine Larrieu, Selina Wray, John Hardy, Stephen P Jackson, Frederick J Livese. Microtubules Deform the Nuclear Membrane and Disrupt Nucleocytoplasmic Transport in Tau-Mediated Frontotemporal Dementia. Cell reports. vol 26. issue 3. 2020-04-09. PMID:30650353. |
autosomal-dominant mutations in mapt cause inherited frontotemporal dementia (ftd), but the underlying pathogenic mechanisms are unclear. |
2020-04-09 |
2023-08-13 |
human |
| Michel Goedert, Maria Grazia Spillantin. Ordered Assembly of Tau Protein and Neurodegeneration. Advances in experimental medicine and biology. vol 1184. 2020-04-08. PMID:32096024. |
their formation is important, because dominantly inherited mutations in mapt, the tau gene, cause frontotemporal dementia with abundant filamentous tau inclusions. |
2020-04-08 |
2023-08-13 |
mouse |
| Aya Ikeda, Hitoshi Shimada, Kenya Nishioka, Masashi Takanashi, Arisa Hayashida, Yuanzhe Li, Hiroyo Yoshino, Manabu Funayama, Yuji Ueno, Taku Hatano, Naruhiko Sahara, Tetsuya Suhara, Makoto Higuchi, Nobutaka Hattor. Clinical heterogeneity of frontotemporal dementia and Parkinsonism linked to chromosome 17 caused by MAPT N279K mutation in relation to tau positron emission tomography features. Movement disorders : official journal of the Movement Disorder Society. vol 34. issue 4. 2020-01-09. PMID:30773680. |
clinical heterogeneity of frontotemporal dementia and parkinsonism linked to chromosome 17 caused by mapt n279k mutation in relation to tau positron emission tomography features. |
2020-01-09 |
2023-08-13 |
Not clear |
| Aya Ikeda, Hitoshi Shimada, Kenya Nishioka, Masashi Takanashi, Arisa Hayashida, Yuanzhe Li, Hiroyo Yoshino, Manabu Funayama, Yuji Ueno, Taku Hatano, Naruhiko Sahara, Tetsuya Suhara, Makoto Higuchi, Nobutaka Hattor. Clinical heterogeneity of frontotemporal dementia and Parkinsonism linked to chromosome 17 caused by MAPT N279K mutation in relation to tau positron emission tomography features. Movement disorders : official journal of the Movement Disorder Society. vol 34. issue 4. 2020-01-09. PMID:30773680. |
while mechanistic links between tau abnormalities and neurodegeneration have been proven in frontotemporal dementia and parkinsonism linked to chromosome 17 caused by mapt mutations, variability of the tau pathogenesis and its relation to clinical progressions in the same mapt mutation carriers are yet to be clarified. |
2020-01-09 |
2023-08-13 |
Not clear |
| Henri J M M Mutsaerts, Saira S Mirza, Jan Petr, David L Thomas, David M Cash, Martina Bocchetta, Enrico de Vita, Arron W S Metcalfe, Zahra Shirzadi, Andrew D Robertson, Maria Carmela Tartaglia, Sara B Mitchell, Sandra E Black, Morris Freedman, David Tang-Wai, Ron Keren, Ekaterina Rogaeva, John van Swieten, Robert Laforce, Fabrizio Tagliavini, Barbara Borroni, Daniela Galimberti, James B Rowe, Caroline Graff, Giovanni B Frisoni, Elizabeth Finger, Sandro Sorbi, Alexandre de Mendonça, Jonathan D Rohrer, Bradley J MacIntosh, Mario Maselli. Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia: a GENFI study. Brain : a journal of neurology. vol 142. issue 4. 2019-12-10. PMID:30847466. |
genetic forms of frontotemporal dementia are most commonly due to mutations in three genes, c9orf72, grn or mapt, with presymptomatic carriers from families representing those at risk. |
2019-12-10 |
2023-08-13 |
Not clear |
| Henri J M M Mutsaerts, Saira S Mirza, Jan Petr, David L Thomas, David M Cash, Martina Bocchetta, Enrico de Vita, Arron W S Metcalfe, Zahra Shirzadi, Andrew D Robertson, Maria Carmela Tartaglia, Sara B Mitchell, Sandra E Black, Morris Freedman, David Tang-Wai, Ron Keren, Ekaterina Rogaeva, John van Swieten, Robert Laforce, Fabrizio Tagliavini, Barbara Borroni, Daniela Galimberti, James B Rowe, Caroline Graff, Giovanni B Frisoni, Elizabeth Finger, Sandro Sorbi, Alexandre de Mendonça, Jonathan D Rohrer, Bradley J MacIntosh, Mario Maselli. Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia: a GENFI study. Brain : a journal of neurology. vol 142. issue 4. 2019-12-10. PMID:30847466. |
in the multicentre genetic frontotemporal dementia initiative (genfi) study, we investigated cross-sectional differences in arterial spin labelling mri-based cerebral blood flow between presymptomatic c9orf72, grn or mapt mutation carriers (n = 107) and non-carriers (n = 113), using general linear mixed-effects models and voxel-based analyses. |
2019-12-10 |
2023-08-13 |
Not clear |
| Jessica L Panman, Lize C Jiskoot, Mark J R J Bouts, Lieke H H Meeter, Emma L van der Ende, Jackie M Poos, Rogier A Feis, Anneke J A Kievit, Rick van Minkelen, Elise G P Dopper, Serge A R B Rombouts, John C van Swieten, Janne M Papm. Gray and white matter changes in presymptomatic genetic frontotemporal dementia: a longitudinal MRI study. Neurobiology of aging. vol 76. 2019-12-06. PMID:30711674. |
in genetic frontotemporal dementia, cross-sectional studies have identified profiles of presymptomatic neuroanatomical loss for c9orf72 repeat expansion, mapt, and grn mutations. |
2019-12-06 |
2023-08-13 |
Not clear |
| Haitian Nan, Ryusuke Takaki, Keisuke Shimozono, Yuta Ichinose, Kishin Koh, Yoshihisa Takiyam. Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene. Internal medicine (Tokyo, Japan). vol 58. issue 16. 2019-12-06. PMID:30996196. |
frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) with mutations in the mapt gene is a hereditary neurodegenerative tauopathy with various clinical phenotypes. |
2019-12-06 |
2023-08-13 |
Not clear |
| Paola Origone, Alessandro Geroldi, Merit Lamp, Francesca Sanguineri, Claudia Caponnetto, Corrado Cabona, Fabio Gotta, Lucia Trevisan, Emilia Bellone, Fiore Manganelli, Grazia Devigili, Paola Mandic. Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. Neuro-degenerative diseases. vol 18. issue 5-6. 2019-10-02. PMID:30893702. |
a cohort of 120 als patients, both sporadic and familial, without cognitive impairment was analyzed by next-generation sequencing with a multiple-gene panel comprising 23 genes, including mapt, known to be associated with als and frontotemporal dementia. |
2019-10-02 |
2023-08-13 |
Not clear |
| Emil Ygland, Danielle van Westen, Elisabet Englund, Rosa Rademakers, Zbigniew K Wszolek, Karin Nilsson, Christer Nilsson, Maria Landqvist Waldö, Irina Alafuzoff, Oskar Hansson, Lars Gustafson, Andreas Puschman. Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review. Alzheimer's research & therapy. vol 10. issue 1. 2019-09-16. PMID:29370822. |
the mapt c.1216c > t (p.arg406trp; r406w) mutation is a known cause of frontotemporal dementia with parkinsonism linked to chromosome 17 tau with alzheimer's disease-like clinical features. |
2019-09-16 |
2023-08-13 |
Not clear |
| Tsz Hang Wong, Cyril Pottier, David C Hondius, Lieke H H Meeter, Jeroen G J van Rooij, Shami Melhem, Rick van Minkelen, Cornelia M van Duijn, Annemieke J M Rozemuller, Harro Seelaar, Rosa Rademakers, John C van Swiete. Three VCP Mutations in Patients with Frontotemporal Dementia. Journal of Alzheimer's disease : JAD. vol 65. issue 4. 2019-08-26. PMID:30103325. |
we screened a cohort of 48 patients with familial frontotemporal dementia (ftd) negative for mapt, grn, and c9orf72 mutations for other known ftd genes by using whole exome sequencing. |
2019-08-26 |
2023-08-13 |
Not clear |
| Lize C Jiskoot, Jessica L Panman, Lieke H Meeter, Elise G P Dopper, Laura Donker Kaat, Sanne Franzen, Emma L van der Ende, Rick van Minkelen, Serge A R B Rombouts, Janne M Papma, John C van Swiete. Longitudinal multimodal MRI as prognostic and diagnostic biomarker in presymptomatic familial frontotemporal dementia. Brain : a journal of neurology. vol 142. issue 1. 2019-08-20. PMID:30508042. |
in the longitudinal frontotemporal dementia risk cohort, presymptomatic mutation carriers and non-carriers from families with familial frontotemporal dementia due to microtubule-associated protein tau (mapt) and progranulin (grn) mutations underwent a clinical assessment and multimodal mri at baseline, 2-, and 4-year follow-up. |
2019-08-20 |
2023-08-13 |
human |
| Lize C Jiskoot, Jessica L Panman, Lieke H Meeter, Elise G P Dopper, Laura Donker Kaat, Sanne Franzen, Emma L van der Ende, Rick van Minkelen, Serge A R B Rombouts, Janne M Papma, John C van Swiete. Longitudinal multimodal MRI as prognostic and diagnostic biomarker in presymptomatic familial frontotemporal dementia. Brain : a journal of neurology. vol 142. issue 1. 2019-08-20. PMID:30508042. |
of the cohort of 73 participants, eight mutation carriers (three grn, five mapt) developed clinical features of frontotemporal dementia ('converters'). |
2019-08-20 |
2023-08-13 |
human |
| Michel Goeder. Tau filaments in neurodegenerative diseases. FEBS letters. vol 592. issue 14. 2019-06-24. PMID:29790176. |
twenty years ago, we and others showed that mutations in mapt, the tau gene, cause familial forms of frontotemporal dementia, thus proving that dysfunction of tau protein is sufficient to cause neurodegeneration and dementia. |
2019-06-24 |
2023-08-13 |
human |
| Haitham Amal, Guanyu Gong, Elizabeta Gjoneska, Sarah M Lewis, John S Wishnok, Li-Huei Tsai, Steven R Tannenbau. S-nitrosylation of E3 ubiquitin-protein ligase RNF213 alters non-canonical Wnt/Ca+2 signaling in the P301S mouse model of tauopathy. Translational psychiatry. vol 9. issue 1. 2019-06-10. PMID:30696811. |
mutations in the mapt gene, which encodes the tau protein, are associated with several neurodegenerative diseases, including frontotemporal dementia (ftd), dementia with epilepsy, and other types of dementia. |
2019-06-10 |
2023-08-13 |
mouse |
| Melissa C Wren, Tammaryn Lashley, Erik Årstad, Kerstin Sande. Large inter- and intra-case variability of first generation tau PET ligand binding in neurodegenerative dementias. Acta neuropathologica communications. vol 6. issue 1. 2019-05-30. PMID:29716656. |
carbazole and 2-arylquinoline binding was only observed in cases with alzheimer's disease and one case with frontotemporal dementia and parkinsonism linked to chromosome 17 exhibiting a r406w mapt mutation. |
2019-05-30 |
2023-08-13 |
human |
| Justin R Welden, Jacob van Doorn, Peter T Nelson, Stefan Stam. The human MAPT locus generates circular RNAs. Biochimica et biophysica acta. Molecular basis of disease. vol 1864. issue 9 Pt B. 2018-12-11. PMID:29729314. |
the pre-mrna of mapt is well studied and its aberrant pre-mrna splicing is associated with frontotemporal dementia. |
2018-12-11 |
2023-08-13 |
human |
| Heike J Wobst, Franziska Denk, Peter L Oliver, Achilleas Livieratos, Tonya N Taylor, Maria H Knudsen, Nora Bengoa-Vergniory, David Bannerman, Richard Wade-Martin. Increased 4R tau expression and behavioural changes in a novel MAPT-N296H genomic mouse model of tauopathy. Scientific reports. vol 7. 2018-11-05. PMID:28233851. |
mutations in the tau gene mapt cause frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17). |
2018-11-05 |
2023-08-13 |
mouse |
| Anna-Lena Hallmann, Marcos J Araúzo-Bravo, Lampros Mavrommatis, Marc Ehrlich, Albrecht Röpke, Johannes Brockhaus, Markus Missler, Jared Sterneckert, Hans R Schöler, Tanja Kuhlmann, Holm Zaehres, Gunnar Hargu. Astrocyte pathology in a human neural stem cell model of frontotemporal dementia caused by mutant TAU protein. Scientific reports. vol 7. 2018-10-29. PMID:28256506. |
astroglial pathology is seen in various neurodegenerative diseases including frontotemporal dementia (ftd), which can be caused by mutations in the gene encoding the microtubule-associated protein tau (mapt). |
2018-10-29 |
2023-08-13 |
human |
| Robert Adalbert, Stefan Milde, Claire Durrant, Kunie Ando, Virginie Stygelbout, Zehra Yilmaz, Stacey Gould, Jean-Pierre Brion, Michael P Colema. Interaction between a MAPT variant causing frontotemporal dementia and mutant APP affects axonal transport. Neurobiology of aging. vol 68. 2018-10-16. PMID:29729423. |
interaction between a mapt variant causing frontotemporal dementia and mutant app affects axonal transport. |
2018-10-16 |
2023-08-13 |
Not clear |