| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| C F Lippa, V Zhukareva, T Kawarai, K Uryu, M Shafiq, L E Nee, J Grafman, Y Liang, P H St George-Hyslop, J Q Trojanowski, V M Le. Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation. Annals of neurology. vol 48. issue 6. 2001-01-11. PMID:11117541. |
it is unclear how tau gene mutations cause frontotemporal dementia (ftd) with parkinsonism linked to chromosome 17 (ftdp-17), but those in exon 10 (e10) or the following intron may be pathogenic by altering e10 splicing, perturbing the normal 1:1 ratio of four versus three microtubule-binding repeat tau (4r:3r tau ratio) and forming tau inclusions. |
2001-01-11 |
2023-08-12 |
Not clear |
| C F Lippa, V Zhukareva, T Kawarai, K Uryu, M Shafiq, L E Nee, J Grafman, Y Liang, P H St George-Hyslop, J Q Trojanowski, V M Le. Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation. Annals of neurology. vol 48. issue 6. 2001-01-11. PMID:11117541. |
we report on a 55-year old woman with frontotemporal dementia and a family history of ftdp-17 in whom we found a novel e12 (glu342val) tau gene mutation, prominent frontotemporal neuron loss, intracytoplasmic tau aggregates, paired helical tau filaments, increased 4r tau messenger rna, increased 4r tau without e2 or e3 inserts, decreased 4r tau with these inserts, and a 4r:3r tau ratio greater than 1 in gray and white matter. |
2001-01-11 |
2023-08-12 |
Not clear |
| S Pickering-Brown, M Baker, S H Yen, W K Liu, M Hasegawa, N Cairns, P L Lantos, M Rossor, T Iwatsubo, Y Davies, D Allsop, R Furlong, F Owen, J Hardy, D Mann, M Hutto. Pick's disease is associated with mutations in the tau gene. Annals of neurology. vol 48. issue 6. 2001-01-11. PMID:11117542. |
recently, mutations within the tau gene have been associated with some familial forms of frontotemporal dementia. |
2001-01-11 |
2023-08-12 |
Not clear |
| M G Spillantini, J C Van Swieten, M Goeder. Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Neurogenetics. vol 2. issue 4. 2001-01-09. PMID:10983715. |
tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (ftdp-17). |
2001-01-09 |
2023-08-12 |
human |
| M G Spillantini, J C Van Swieten, M Goeder. Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Neurogenetics. vol 2. issue 4. 2001-01-09. PMID:10983715. |
filamentous tau protein deposits are also the defining characteristic of other neurodegenerative diseases, many of which are frontotemporal dementias or movement disorders, such as pick's disease, progressive supranuclear palsy and corticobasal degeneration. |
2001-01-09 |
2023-08-12 |
human |
| M G Spillantini, J C Van Swieten, M Goeder. Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Neurogenetics. vol 2. issue 4. 2001-01-09. PMID:10983715. |
this has now changed with the discovery of more than 15 mutations in the tau gene in "frontotemporal dementia and parkinsonism linked to chromosome 17" (ftdp-17). |
2001-01-09 |
2023-08-12 |
human |
| M van Slegtenhorst, J Lewis, M Hutto. The molecular genetics of the tauopathies. Experimental gerontology. vol 35. issue 4. 2000-12-22. PMID:10959034. |
the identification of mutations in the tau gene in frontotemporal dementia and parkinsonism linked to chromosome 17 (ftdp-17) demonstrated that there is a direct link between tau dysfunction and neurodegeneration. |
2000-12-22 |
2023-08-12 |
Not clear |
| K A Jellinge. Morphological substrates of mental dysfunction in Lewy body disease: an update. Journal of neural transmission. Supplementum. vol 59. 2000-12-22. PMID:10961431. |
familial parkinsonism with dementia, linked to chromosome 17 (frontotemporal dementia with parkinsonism (ftdp-17), and other tauopathies pathologically resembling pd plus ad, are often related to mutations of the tau gene, whereas familial pd with alpha-synuclein and parkin mutations usually show no cognitive impairment. |
2000-12-22 |
2023-08-12 |
Not clear |
| A Delacourte, L Bué. Tau pathology: a marker of neurodegenerative disorders. Current opinion in neurology. vol 13. issue 4. 2000-12-22. PMID:10970052. |
tau is not only a basic component of neurofibrillary degeneration, but is also an aetiological factor, as demonstrated by mutations on the tau gene responsible for frontotemporal dementias with parkinsonism linked to chromosome 17. |
2000-12-22 |
2023-08-12 |
Not clear |
| M J Smith, R A Crowther, M Goeder. The natural osmolyte trimethylamine N-oxide (TMAO) restores the ability of mutant tau to promote microtubule assembly. FEBS letters. vol 484. issue 3. 2000-12-22. PMID:11078890. |
coding region and intronic mutations in the gene for microtubule-associated protein tau cause frontotemporal dementia and parkinsonism linked to chromosome 17 (ftdp-17). |
2000-12-22 |
2023-08-12 |
Not clear |
| R A Crowther, M Goeder. Abnormal tau-containing filaments in neurodegenerative diseases. Journal of structural biology. vol 130. issue 2-3. 2000-12-11. PMID:10940231. |
recently a group of frontotemporal dementias with parkinsonism linked to chromosome 17 has been shown to be caused by mutations in the tau gene. |
2000-12-11 |
2023-08-12 |
Not clear |
| M Yasuda, K Yokoyama, T Nakayasu, Y Nishimura, M Matsui, T Yokoyama, K Miyoshi, C Tanak. A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation. Neurology. vol 55. issue 8. 2000-12-07. PMID:11071507. |
a japanese patient with frontotemporal dementia and parkinsonism by a tau p301s mutation. |
2000-12-07 |
2023-08-12 |
Not clear |
| C Rizzini, M Goedert, J R Hodges, M J Smith, R Jakes, R Hills, J H Xuereb, R A Crowther, M G Spillantin. Tau gene mutation K257T causes a tauopathy similar to Pick's disease. Journal of neuropathology and experimental neurology. vol 59. issue 11. 2000-12-07. PMID:11089577. |
exonic and intronic mutations in tau cause neurodegenerative syndromes characterized by frontotemporal dementia and filamentous tau protein deposits. |
2000-12-07 |
2023-08-12 |
Not clear |
| M Sjögren, L Minthon, P Davidsson, Granérus A-K, A Clarberg, H Vanderstichele, E Vanmechelen, A Wallin, K Blenno. CSF levels of tau, beta-amyloid(1-42) and GAP-43 in frontotemporal dementia, other types of dementia and normal aging. Journal of neural transmission (Vienna, Austria : 1996). vol 107. issue 5. 2000-11-30. PMID:11072752. |
csf levels of tau, beta-amyloid(1-42) and gap-43 in frontotemporal dementia, other types of dementia and normal aging. |
2000-11-30 |
2023-08-12 |
Not clear |
| M Sjögren, L Minthon, P Davidsson, Granérus A-K, A Clarberg, H Vanderstichele, E Vanmechelen, A Wallin, K Blenno. CSF levels of tau, beta-amyloid(1-42) and GAP-43 in frontotemporal dementia, other types of dementia and normal aging. Journal of neural transmission (Vienna, Austria : 1996). vol 107. issue 5. 2000-11-30. PMID:11072752. |
cerebrospinal fluid (csf) levels of tau, beta-amyloid(1-42) and growth-associated protein 43 (gap-43) were studied in patients with frontotemporal dementia (ftd; n = 17), alzheimer's disease (ad; n = 60), subcortical white-matter dementia (swd; n = 24), parkinson's disease (pd; n = 23) and dysthymia (n = 19) and in age-matched controls (n = 32). |
2000-11-30 |
2023-08-12 |
Not clear |
| M Goedert, S Satumtira, R Jakes, M J Smith, C Kamibayashi, C L White, E Sonta. Reduced binding of protein phosphatase 2A to tau protein with frontotemporal dementia and parkinsonism linked to chromosome 17 mutations. Journal of neurochemistry. vol 75. issue 5. 2000-11-09. PMID:11032905. |
reduced binding of protein phosphatase 2a to tau protein with frontotemporal dementia and parkinsonism linked to chromosome 17 mutations. |
2000-11-09 |
2023-08-12 |
rat |
| M Goedert, S Satumtira, R Jakes, M J Smith, C Kamibayashi, C L White, E Sonta. Reduced binding of protein phosphatase 2A to tau protein with frontotemporal dementia and parkinsonism linked to chromosome 17 mutations. Journal of neurochemistry. vol 75. issue 5. 2000-11-09. PMID:11032905. |
coding region and intronic mutations in the tau gene cause frontotemporal dementia and parkinsonism linked to chromosome 17 (ftdp-17). |
2000-11-09 |
2023-08-12 |
rat |
| S Barghorn, Q Zheng-Fischhöfer, M Ackmann, J Biernat, M von Bergen, E M Mandelkow, E Mandelko. Structure, microtubule interactions, and paired helical filament aggregation by tau mutants of frontotemporal dementias. Biochemistry. vol 39. issue 38. 2000-11-07. PMID:10995239. |
structure, microtubule interactions, and paired helical filament aggregation by tau mutants of frontotemporal dementias. |
2000-11-07 |
2023-08-12 |
Not clear |
| S Barghorn, Q Zheng-Fischhöfer, M Ackmann, J Biernat, M von Bergen, E M Mandelkow, E Mandelko. Structure, microtubule interactions, and paired helical filament aggregation by tau mutants of frontotemporal dementias. Biochemistry. vol 39. issue 38. 2000-11-07. PMID:10995239. |
we have studied biochemical and structural parameters of several missense and deletion mutants of tau protein (g272v, n279k, deltak280, p301l, v337m, r406w) found in frontotemporal dementia and parkinsonism linked to chromosome 17 (ftdp-17). |
2000-11-07 |
2023-08-12 |
Not clear |
| M B Delisle, E Uro-Coste, J R Murrell, O Rascol, B Ghett. [Neurodegenerative disease associated with a mutation of codon 279 (N279K) in exon 10 of Tau protein]. Bulletin de l'Academie nationale de medecine. vol 184. issue 4. 2000-10-26. PMID:10989564. |
frontotemporal dementia and parkinsonism linked to chromosome 17 (ftdp-17) are related to pathogenic mutations of the tau gene. |
2000-10-26 |
2023-08-12 |
Not clear |