| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Casey Cook, Judy H Dunmore, Melissa E Murray, Kristyn Scheffel, Nawsheen Shukoor, Jimei Tong, Monica Castanedes-Casey, Virginia Phillips, Linda Rousseau, Michael S Penuliar, Aishe Kurti, Dennis W Dickson, Leonard Petrucelli, John D Frye. Severe amygdala dysfunction in a MAPT transgenic mouse model of frontotemporal dementia. Neurobiology of aging. vol 35. issue 7. 2014-11-17. PMID:24503275. |
frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) is a neurodegenerative tauopathy caused by mutations in the tau gene (mapt). |
2014-11-17 |
2023-08-12 |
mouse |
| Marta Fernández-Nogales, Jorge R Cabrera, María Santos-Galindo, Jeroen J M Hoozemans, Isidro Ferrer, Annemieke J M Rozemuller, Félix Hernández, Jesús Avila, José J Luca. Huntington's disease is a four-repeat tauopathy with tau nuclear rods. Nature medicine. vol 20. issue 8. 2014-10-10. PMID:25038828. |
an imbalance of tau isoforms containing either three or four microtubule-binding repeats causes frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) in families with intronic mutations in the mapt gene. |
2014-10-10 |
2023-08-13 |
mouse |
| Eun-Joo Kim, Jay C Kwon, Kee Hyung Park, Kyung-Won Park, Jae-Hong Lee, Seong Hye Choi, Jee H Jeong, Byeong C Kim, Soo Jin Yoon, Young Chul Yoon, Sangyun Kim, Key-Chung Park, Byung-Ok Choi, Duk L Na, Chang-Seok Ki, Seung Hyun Ki. Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia. Neurobiology of aging. vol 35. issue 5. 2014-10-06. PMID:24387985. |
clinical and genetic analysis of mapt, grn, and c9orf72 genes in korean patients with frontotemporal dementia. |
2014-10-06 |
2023-08-12 |
Not clear |
| Eun-Joo Kim, Jay C Kwon, Kee Hyung Park, Kyung-Won Park, Jae-Hong Lee, Seong Hye Choi, Jee H Jeong, Byeong C Kim, Soo Jin Yoon, Young Chul Yoon, Sangyun Kim, Key-Chung Park, Byung-Ok Choi, Duk L Na, Chang-Seok Ki, Seung Hyun Ki. Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia. Neurobiology of aging. vol 35. issue 5. 2014-10-06. PMID:24387985. |
the hexanucleotide repeat expansion (ggggcc) in chromosome 9 open-reading frame 72 (c9orf72) and mutations in the microtubule-associated protein tau (mapt) and progranulin (grn) genes are known to be associated with the main causes of familial or sporadic amyotrophic lateral sclerosis and frontotemporal dementia (ftd) in western populations. |
2014-10-06 |
2023-08-12 |
Not clear |
| Mariangela Iovino, Ulrich Pfisterer, Janice L Holton, Tammaryn Lashley, Robert J Swingler, Laura Calo, Rebecca Treacy, Tamas Revesz, Malin Parmar, Michel Goedert, Miratul M K Muqit, Maria Grazia Spillantin. The novel MAPT mutation K298E: mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons. Acta neuropathologica. vol 127. issue 2. 2014-09-30. PMID:24292008. |
mutations in the microtubule-associated protein tau gene (mapt) cause frontotemporal dementia and parkinsonism linked to chromosome 17 (ftdp-17t). |
2014-09-30 |
2023-08-12 |
Not clear |
| Giacomina Rossi, Donatella Conconi, Elena Panzeri, Laura Paoletta, Elena Piccoli, Maria Giulia Ferretti, Michela Mangieri, Margherita Ruggerone, Leda Dalprà, Fabrizio Tagliavin. Mutations in MAPT give rise to aneuploidy in animal models of tauopathy. Neurogenetics. vol 15. issue 1. 2014-09-08. PMID:24218087. |
in fact, peripheral cells of patients affected by frontotemporal dementia carrying different mapt mutations showed structural and numerical chromosome aberrations. |
2014-09-08 |
2023-08-12 |
mouse |
| P M Aswathy, P S Jairani, Joe Verghese, Srinivas Gopala, P S Mathuranat. Microtubule-associated protein tau genetic variations are uncommon cause of frontotemporal dementia in south India. Neurobiology of aging. vol 35. issue 2. 2014-08-25. PMID:24041972. |
microtubule-associated protein tau (mapt) positive neuropathology is the characteristic feature of majority of frontotemporal dementia (ftd) cases, which is due to the mutations or haplotypic variations in the gene encoding mapt (mapt). |
2014-08-25 |
2023-08-12 |
Not clear |
| Abhinaya Iyer, Nichole E Lapointe, Krzysztof Zielke, Mariusz Berdynski, Elmer Guzman, Anna Barczak, Małgorzata Chodakowska-Żebrowska, Maria Barcikowska, Stuart Feinstein, Cezary Zekanowsk. A novel MAPT mutation, G55R, in a frontotemporal dementia patient leads to altered Tau function. PloS one. vol 8. issue 9. 2014-07-18. PMID:24086739. |
a novel mapt mutation, g55r, in a frontotemporal dementia patient leads to altered tau function. |
2014-07-18 |
2023-08-12 |
Not clear |
| Emilia J Sitek, Ewa Narozanska, Anna Barczak, Barbara Jasinska-Myga, Michał Harciarek, Małgorzata Chodakowska-Zebrowska, Małgorzata Kubiak, Dariusz Wieczorek, Seweryna Konieczna, Rosa Rademakers, Matt Baker, Mariusz Berdynski, Bogna Brockhuis, Maria Barcikowska, Cezary Zekanowski, Kenneth M Heilman, Zbigniew K Wszolek, Jarosław Slawe. Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301L MAPT mutation: dysexecutive, aphasic, apraxic or spatial phenomenon? Neurocase. vol 20. issue 1. 2014-07-10. PMID:23121543. |
agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with p301l mapt mutation: dysexecutive, aphasic, apraxic or spatial phenomenon? |
2014-07-10 |
2023-08-12 |
Not clear |
| Suzee E Lee, Maria C Tartaglia, Görsev Yener, Sermin Genç, William W Seeley, Pascual Sanchez-Juan, Fermin Moreno, Mario F Mendez, Eric Klein, Rosa Rademakers, Adolfo López de Munain, Onofre Combarros, Joel H Kramer, Robert O Kenet, Adam L Boxer, Michael D Geschwind, Maria-Luisa Gorno-Tempini, Anna M Karydas, Gil D Rabinovici, Giovanni Coppola, Daniel H Geschwind, Bruce L Mille. Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease. Alzheimer disease and associated disorders. vol 27. issue 4. 2014-07-08. PMID:23518664. |
neurodegenerative disease phenotypes in carriers of mapt p.a152t, a risk factor for frontotemporal dementia spectrum disorders and alzheimer disease. |
2014-07-08 |
2023-08-12 |
human |
| Suzee E Lee, Maria C Tartaglia, Görsev Yener, Sermin Genç, William W Seeley, Pascual Sanchez-Juan, Fermin Moreno, Mario F Mendez, Eric Klein, Rosa Rademakers, Adolfo López de Munain, Onofre Combarros, Joel H Kramer, Robert O Kenet, Adam L Boxer, Michael D Geschwind, Maria-Luisa Gorno-Tempini, Anna M Karydas, Gil D Rabinovici, Giovanni Coppola, Daniel H Geschwind, Bruce L Mille. Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease. Alzheimer disease and associated disorders. vol 27. issue 4. 2014-07-08. PMID:23518664. |
recently, coppola and colleagues demonstrated that a rare microtubule-associated protein tau (mapt) sequence variant, c.454g>a (p.a152t) significantly increases the risk of frontotemporal dementia (ftd) spectrum disorders and alzheimer disease (ad) in a screen of 15,369 subjects. |
2014-07-08 |
2023-08-12 |
human |
| Esther N Bit-Ivan, Eunran Suh, Hyung-Sub Shim, Sandra Weintraub, Bradley T Hyman, Steven E Arnold, Elisabeth McCarty-Wood, Viviana M Van Deerlin, Julie A Schneider, John Q Trojanowski, Matthew P Frosch, Matt C Baker, Rosa Rademakers, Marsel Mesulam, Eileen H Bigi. A novel GRN mutation (GRN c.708+6_+9delTGAG) in frontotemporal lobar degeneration with TDP-43-positive inclusions: clinicopathologic report of 6 cases. Journal of neuropathology and experimental neurology. vol 73. issue 5. 2014-06-05. PMID:24709683. |
mutations in 7 known genes (mapt, grn, c9orf72, vcp, chmp2b, and, rarely, tardbp and fus) are associated with frontotemporal dementia, and the pathologic classification of frontotemporal lobar degeneration has recently been modified to reflect these discoveries. |
2014-06-05 |
2023-08-13 |
Not clear |
| Clement T Loy, Peter R Schofield, Anne M Turner, John B J Kwo. Genetics of dementia. Lancet (London, England). vol 383. issue 9919. 2014-03-11. PMID:23927914. |
in this review, we focus on the evidence for, and the approach to, genetic testing in alzheimer's disease (app, psen1, and psen2 genes), frontotemporal dementia (mapt, grn, c9orf72, and other genes), and other familial dementias. |
2014-03-11 |
2023-08-12 |
Not clear |
| Raphaëlle Caillierez, Séverine Bégard, Katia Lécolle, Vincent Deramecourt, Nadège Zommer, Simon Dujardin, Anne Loyens, Noëlle Dufour, Gwennaëlle Aurégan, Joris Winderickx, Philippe Hantraye, Nicole Déglon, Luc Buée, Morvane Coli. Lentiviral delivery of the human wild-type tau protein mediates a slow and progressive neurodegenerative tau pathology in the rat brain. Molecular therapy : the journal of the American Society of Gene Therapy. vol 21. issue 7. 2014-02-10. PMID:23609018. |
most models for tauopathy use a mutated form of the tau gene, mapt, that is found in frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) and that leads to rapid neurofibrillary degeneration (nfd). |
2014-02-10 |
2023-08-12 |
mouse |
| Michael S Wolf. The role of tau in neurodegenerative diseases and its potential as a therapeutic target. Scientifica. vol 2012. 2013-11-26. PMID:24278740. |
the discovery that dominant mutations in the mapt gene encoding tau are associated with familial frontotemporal dementia strongly supports abnormal tau protein as directly involved in disease pathogenesis. |
2013-11-26 |
2023-08-12 |
Not clear |
| David J Irwin, Todd J Cohen, Murray Grossman, Steven E Arnold, Elisabeth McCarty-Wood, Vivianna M Van Deerlin, Virginia M-Y Lee, John Q Trojanowsk. Acetylated tau neuropathology in sporadic and hereditary tauopathies. The American journal of pathology. vol 183. issue 2. 2013-10-24. PMID:23885714. |
thirty brain regions were examined in argyrophilic grain disease (agd; n = 5), tangle-predominant senile dementia (tpsd; n = 5), pick disease (n = 4), familial ad (fad; n = 2; psen1 p.g206a and p.s170p), and frontotemporal dementia with parkinsonism linked to chromosome-17 (ftdp-17; n = 2; mapt p.p301l and ivs10 + 16). |
2013-10-24 |
2023-08-12 |
Not clear |
| Andreas Puschman. Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations. Parkinsonism & related disorders. vol 19. issue 4. 2013-09-06. PMID:23462481. |
changes in a long list of additional genes have been suggested as causes for parkinsonism or pd, including genes for hereditary ataxias (atxn2, atxn3, fmr1), frontotemporal dementia (c9orf72, grn, mapt, tardbp), dyt5 (gch1, th, spr), and others (atp13a2, csf1r, dnajc6, fbxo, gigyf2, htra2, pla2g6, polg, spg11, uchl1). |
2013-09-06 |
2023-08-12 |
Not clear |
| Angela Roco, Félix Javier Jiménez-Jiménez, Hortensia Alonso-Navarro, Carmen Martínez, Martín Zurdo, Laura Turpín-Fenoll, Jorge Millán, Teresa Adeva-Bartolomé, Esther Cubo, Francisco Navacerrada, Ana Rojo-Sebastián, Lluisa Rubio, Marisol Calleja, José Francisco Plaza-Nieto, Belén Pilo-de-la-Fuente, Margarita Arroyo-Solera, Elena García-Martín, José A G Agúnde. MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome. Journal of neural transmission (Vienna, Austria : 1996). vol 120. issue 3. 2013-08-12. PMID:23001634. |
mutations in the microtubule-associated protein tau gene (mapt) can cause frontotemporal dementia with parkinsonism linked to the chromosome 17, and are associated with the risk for progressive supranuclear palsy, parkinson's disease, corticobasal degeneration, and multiple system atrophy. |
2013-08-12 |
2023-08-12 |
Not clear |
| Thomas L Platt, Valerie L Reeves, M Paul Murph. Transgenic models of Alzheimer's disease: better utilization of existing models through viral transgenesis. Biochimica et biophysica acta. vol 1832. issue 9. 2013-08-08. PMID:23619198. |
some models also incorporate mutations in tau (mapt) known to cause frontotemporal dementia, a neurodegenerative disease that shares some elements of neuropathology with ad. |
2013-08-08 |
2023-08-12 |
mouse |
| Maria Grazia Spillantini, Michel Goeder. Tau pathology and neurodegeneration. The Lancet. Neurology. vol 12. issue 6. 2013-07-22. PMID:23684085. |
dominantly inherited mutations in mapt, the gene that encodes tau, cause forms of frontotemporal dementia and parkinsonism, proving that dysfunction of tau is sufficient to cause neurodegeneration and dementia. |
2013-07-22 |
2023-08-12 |
human |