-
1
-
-
4844219627
-
Promotion of hyperphosphorylation by frontotemporal dementia tau mutations
-
Alonso, A. C., Mederlyova, A., Novak, M., Grundke-Iqbal, I., and Iqbal, K. (2004). Promotion of hyperphosphorylation by frontotemporal dementia tau mutations. J. Biol. Chem. 279, 34873-34881. doi: 10.1074/jbc.m405131200.
-
(2004)
J. Biol. Chem
, vol.279
, pp. 34873-34881
-
-
Alonso, A.C.1
Mederlyova, A.2
Novak, M.3
Grundke-Iqbal, I.4
Iqbal, K.5
-
2
-
-
77957256216
-
Phosphorylation of tau at Thr212, Thr231 and Ser262 combined causes neurodegeneration
-
Alonso, A. D., Di Clerico, J., Li, B., Corbo, C. P., Alaniz, M. E., Grundke-Iqbal, I., et al. (2010). Phosphorylation of tau at Thr212, Thr231 and Ser262 combined causes neurodegeneration. J. Biol. Chem. 285, 30851-30860. doi: 10.1074/jbc.m110.110957.
-
(2010)
J. Biol. Chem
, vol.285
, pp. 30851-30860
-
-
Alonso, A.D.1
Di Clerico, J.2
Li, B.3
Corbo, C.P.4
Alaniz, M.E.5
Grundke-Iqbal, I.6
-
3
-
-
0000293742
-
über eine eigenartige Erkrankung der Hirnrinde
-
Alzheimer, A. (1907). über eine eigenartige Erkrankung der Hirnrinde. Allg. Z. Psychiat. 64, 146-148.
-
(1907)
Allg. Z. Psychiat
, vol.64
, pp. 146-148
-
-
Alzheimer, A.1
-
4
-
-
33646906138
-
über eigenartige Krankheitsfälle des späteren Alters
-
Alzheimer, A. (1911). über eigenartige Krankheitsfälle des späteren Alters. Z. Ges. Neurol. Psychiat. 4, 356-385. doi: 10.1007/bf02866241.
-
(1911)
Z. Ges. Neurol. Psychiat
, vol.4
, pp. 356-385
-
-
Alzheimer, A.1
-
5
-
-
0041803006
-
Hyperphosphorylation and aggregation of tau in mice expressing normal human tau isoforms
-
Andorfer, C., Kress, Y., Espinoza, M., de Silva, R., Tucker, K. L., Barde, Y. A., et al. (2003). Hyperphosphorylation and aggregation of tau in mice expressing normal human tau isoforms. J. Neurochem. 86, 582-590. doi: 10.1046/j.1471-4159.2003.01879.x.
-
(2003)
J. Neurochem
, vol.86
, pp. 582-590
-
-
Andorfer, C.1
Kress, Y.2
Espinoza, M.3
de Silva, R.4
Tucker, K.L.5
Barde, Y.A.6
-
6
-
-
79953066738
-
Compound heterozygosity of 2 novel MAPT mutations in frontotemporal dementia
-
757.e1-757.e11
-
Anfossi, M., Vuono, R., Maletta, R., Virdee, K., Mirabelli, M., Colao, R., et al. (2011). Compound heterozygosity of 2 novel MAPT mutations in frontotemporal dementia. Neurobiol. Aging 32, 757.e1-757.e11. doi: 10.1016/j.neurobiolaging.2010.12.013.
-
(2011)
Neurobiol. Aging
, vol.32
-
-
Anfossi, M.1
Vuono, R.2
Maletta, R.3
Virdee, K.4
Mirabelli, M.5
Colao, R.6
-
7
-
-
84911387083
-
The clinical significance of small copy number variants in neurodevelopmental disorders
-
Asadollahi, R., Oneda, B., Joset, P., Azzarello-Burri, S., Bartholdi, D., Steindl, K., et al. (2014). The clinical significance of small copy number variants in neurodevelopmental disorders. J. Med. Genet. 51, 677-688. doi: 10.1136/jmedgenet-2014-102588.
-
(2014)
J. Med. Genet
, vol.51
, pp. 677-688
-
-
Asadollahi, R.1
Oneda, B.2
Joset, P.3
Azzarello-Burri, S.4
Bartholdi, D.5
Steindl, K.6
-
8
-
-
0033041179
-
Association of an extended haplotype in the tau gene with progressive supranuclear palsy
-
Baker, M., Litvan, I., Houlden, H., Adamson, J., Dickson, D., Perez-Tur, J., et al. (1999). Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum. Mol. Genet. 8, 711-715. doi: 10.1093/hmg/8.4.711.
-
(1999)
Hum. Mol. Genet
, vol.8
, pp. 711-715
-
-
Baker, M.1
Litvan, I.2
Houlden, H.3
Adamson, J.4
Dickson, D.5
Perez-Tur, J.6
-
9
-
-
0034718571
-
Structure, microtubule interactions and paired helical filament aggregation by tau mutants of frontotemporal dementias
-
Barghorn, S., Zheng-Fischhöfer, Q., Ackmann, M., Biernat, J., von Bergen, M., Mandelkow, E. M., et al. (2000). Structure, microtubule interactions and paired helical filament aggregation by tau mutants of frontotemporal dementias. Biochemistry 39, 11714-11721. doi: 10.1021/bi000850r.
-
(2000)
Biochemistry
, vol.39
, pp. 11714-11721
-
-
Barghorn, S.1
Zheng-Fischhöfer, Q.2
Ackmann, M.3
Biernat, J.4
von Bergen, M.5
Mandelkow, E.M.6
-
10
-
-
34147125835
-
Accumulation of pathological tau species and memory loss in a conditional model of tauopathy
-
Berger, Z., Roder, H., Hanna, A., Carlson, A., Rangachari, V., Yue, M., et al. (2007). Accumulation of pathological tau species and memory loss in a conditional model of tauopathy. J. Neurosci. 27, 3650-3662. doi: 10.1523/jneurosci.0587-07.2007.
-
(2007)
J. Neurosci
, vol.27
, pp. 3650-3662
-
-
Berger, Z.1
Roder, H.2
Hanna, A.3
Carlson, A.4
Rangachari, V.5
Yue, M.6
-
11
-
-
84875367680
-
Frontotemporal degeneration, the next therapeutic frontier: molecules and animal models for frontotemporal degeneration drug development
-
Boxer, A. L., Gold, M., Huey, E., Gao, F. B., Burton, E. A., Chow, T., et al. (2013). Frontotemporal degeneration, the next therapeutic frontier: molecules and animal models for frontotemporal degeneration drug development. Alzheimers Dement. 9, 176-188. doi: 10.1016/j.jalz.2012.03.002.
-
(2013)
Alzheimers Dement
, vol.9
, pp. 176-188
-
-
Boxer, A.L.1
Gold, M.2
Huey, E.3
Gao, F.B.4
Burton, E.A.5
Chow, T.6
-
12
-
-
0028785525
-
Interaction of tau with the neural plasma membrane mediated by tau's amino-terminal projection domain
-
Brandt, R., Léger, J., and Lee, G. (1995). Interaction of tau with the neural plasma membrane mediated by tau's amino-terminal projection domain. J. Cell Biol. 131, 1327-1340. doi: 10.1083/jcb.131.5.1327.
-
(1995)
J. Cell Biol
, vol.131
, pp. 1327-1340
-
-
Brandt, R.1
Léger, J.2
Lee, G.3
-
13
-
-
0033850407
-
Tau protein isoforms, phosphorylation and role in neurodegenerative disorders
-
Buée, L., Bussiére, T., Buée-Scherrer, V., Delacourte, A., and Hof, P. R. (2000). Tau protein isoforms, phosphorylation and role in neurodegenerative disorders. Brain Res. Brain Res. Rev. 33, 95-130. doi: 10.1016/s0165-0173(00)00019-9.
-
(2000)
Brain Res. Brain Res. Rev
, vol.33
, pp. 95-130
-
-
Buée, L.1
Bussiére, T.2
Buée-Scherrer, V.3
Delacourte, A.4
Hof, P.R.5
-
14
-
-
0033059975
-
Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau
-
Bugiani, O., Murrell, J. R., Giaccone, G., Hasegawa, M., Ghigo, G., Tabaton, M., et al. (1999). Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. J. Neuropathol. Exp. Neurol. 58, 667-677. doi: 10.1097/00005072-199906000-00011.
-
(1999)
J. Neuropathol. Exp. Neurol
, vol.58
, pp. 667-677
-
-
Bugiani, O.1
Murrell, J.R.2
Giaccone, G.3
Hasegawa, M.4
Ghigo, G.5
Tabaton, M.6
-
15
-
-
0033987314
-
A polymorphism in the tau gene associated with risk for Alzheimer's disease
-
Bullido, M. J., Aldudo, J., Frank, A., Coria, F., Avila, J., and Valdivieso, F. (2000). A polymorphism in the tau gene associated with risk for Alzheimer's disease. Neurosci. Lett. 278, 49-52. doi: 10.1016/s0304-3940(99)00893-9.
-
(2000)
Neurosci. Lett
, vol.278
, pp. 49-52
-
-
Bullido, M.J.1
Aldudo, J.2
Frank, A.3
Coria, F.4
Avila, J.5
Valdivieso, F.6
-
16
-
-
33744952341
-
FTDP-17 mutations compromise the ability of tau to regulate microtubule dynamics in cells
-
Bunker, J. M., Kamath, K., Wilson, L., Jordan, M. A., and Feinstein, S. C. (2006). FTDP-17 mutations compromise the ability of tau to regulate microtubule dynamics in cells. J. Biol. Chem. 281, 11856-11863. doi: 10.1074/jbc.m509420200.
-
(2006)
J. Biol. Chem
, vol.281
, pp. 11856-11863
-
-
Bunker, J.M.1
Kamath, K.2
Wilson, L.3
Jordan, M.A.4
Feinstein, S.C.5
-
17
-
-
54349085644
-
Pathogenic missense MAPT mutations differentially modulate tau aggregation propensity at nucleation and extension steps
-
Chang, E., Kim, S., Yin, H., Nagaraja, H. N., and Kure, J. (2008). Pathogenic missense MAPT mutations differentially modulate tau aggregation propensity at nucleation and extension steps. J. Neurochem. 107, 1113-1123. doi: 10.1111/j.1471-4159.2008.05692.x.
-
(2008)
J. Neurochem
, vol.107
, pp. 1113-1123
-
-
Chang, E.1
Kim, S.2
Yin, H.3
Nagaraja, H.N.4
Kure, J.5
-
18
-
-
0031044850
-
Genetic evidence for the involvement of tau in progressive supranuclear palsy
-
Conrad, C., Andreadis, A., Trojanowski, J. Q., Dickson, D. W., Kang, D., Chen, X., et al. (1997). Genetic evidence for the involvement of tau in progressive supranuclear palsy. Ann. Neurol. 41, 277-281. doi: 10.1002/ana.410410222.
-
(1997)
Ann. Neurol
, vol.41
, pp. 277-281
-
-
Conrad, C.1
Andreadis, A.2
Trojanowski, J.Q.3
Dickson, D.W.4
Kang, D.5
Chen, X.6
-
19
-
-
84864505483
-
Evidence for a role of the rare p. A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases
-
Coppola, G., Chinnathambi, S., Lee, J. J., Dombroski, B. A., Baker, M. C., Soto-Ortolaza, A. I., et al. (2012). Evidence for a role of the rare p. A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Hum. Mol. Genet. 21, 3500-3512. doi: 10.1093/hmg/dds161.
-
(2012)
Hum. Mol. Genet
, vol.21
, pp. 3500-3512
-
-
Coppola, G.1
Chinnathambi, S.2
Lee, J.J.3
Dombroski, B.A.4
Baker, M.C.5
Soto-Ortolaza, A.I.6
-
20
-
-
84856541277
-
Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families
-
Cruchaga, C., Haller, G., Chakraverty, S., Mayo, K., Vallania, F. L., Mitra, R. D., et al. (2012). Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families. PLoS One 7:e31039. doi: 10.1371/journal.pone.0031039.
-
(2012)
PLoS One
, vol.7
-
-
Cruchaga, C.1
Haller, G.2
Chakraverty, S.3
Mayo, K.4
Vallania, F.L.5
Mitra, R.D.6
-
21
-
-
58249104270
-
5'-Upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration
-
Cruchaga, C., Vidal-Taboada, J. M., Ezquerra, M., Lorenzo, E., Martinez-Lage, P., Blazquez, M., et al. (2009). 5'-Upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration. Neurobiol. Dis. 33, 164-170. doi: 10.1016/j.nbd.2008.09.027.
-
(2009)
Neurobiol. Dis
, vol.33
, pp. 164-170
-
-
Cruchaga, C.1
Vidal-Taboada, J.M.2
Ezquerra, M.3
Lorenzo, E.4
Martinez-Lage, P.5
Blazquez, M.6
-
22
-
-
26444608642
-
Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region
-
Cruts, M., Rademakers, R., Gijselinck, I., van der Zee, J., Dermaut, B., de Pooter, T., et al. (2005). Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region. Hum. Mol. Genet. 14, 1753-1762. doi: 10.1093/hmg/ddi182.
-
(2005)
Hum. Mol. Genet
, vol.14
, pp. 1753-1762
-
-
Cruts, M.1
Rademakers, R.2
Gijselinck, I.3
van der Zee, J.4
Dermaut, B.5
de Pooter, T.6
-
23
-
-
84865176138
-
Locus-specific mutation databases for neurodegenerative brain diseases
-
Cruts, M., Theuns, J., and Van Broeckhoven, C. (2012). Locus-specific mutation databases for neurodegenerative brain diseases. Hum. Mutat. 33, 1340-1344. doi: 10.1002/humu.22117.
-
(2012)
Hum. Mutat
, vol.33
, pp. 1340-1344
-
-
Cruts, M.1
Theuns, J.2
Van Broeckhoven, C.3
-
24
-
-
0035812874
-
Strong association of a novel Tau promoter haplotype in progressive supranuclear palsy
-
de Silva, R., Weiler, M., Morris, H. R., Martin, E. R., Wood, N. W., and Lees, A. J. (2001). Strong association of a novel Tau promoter haplotype in progressive supranuclear palsy. Neurosci. Lett. 311, 145-148. doi: 10.1016/s0304-3940(01)02109-7.
-
(2001)
Neurosci. Lett
, vol.311
, pp. 145-148
-
-
de Silva, R.1
Weiler, M.2
Morris, H.R.3
Martin, E.R.4
Wood, N.W.5
Lees, A.J.6
-
25
-
-
84904015566
-
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation
-
Di Fonzo, A., Ronchi, D., Gallia, F., Cribiù, F. M., Trezzi, I., Vetro, A., et al. (2014). Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation. Neurology 82, 1990-1998. doi: 10.1212/wnl.0000000000000476.
-
(2014)
Neurology
, vol.82
, pp. 1990-1998
-
-
Di Fonzo, A.1
Ronchi, D.2
Gallia, F.3
Cribiù, F.M.4
Trezzi, I.5
Vetro, A.6
-
26
-
-
80855138704
-
Neuropathology of frontotemporal lobar degeneration-tau (FTLD-tau)
-
Dickson, D. W., Kouri, N., Murray, M. E., and Josephs, K. A. (2011). Neuropathology of frontotemporal lobar degeneration-tau (FTLD-tau). J. Mol. Neurosci. 45, 384-389. doi: 10.1007/s12031-011-9589-0.
-
(2011)
J. Mol. Neurosci
, vol.45
, pp. 384-389
-
-
Dickson, D.W.1
Kouri, N.2
Murray, M.E.3
Josephs, K.A.4
-
27
-
-
39749165656
-
Differential regulation of dynein and kinesin motor proteins by tau
-
Dixit, R., Ross, J. L., Goldman, Y. E., and Holzbaur, E. L. (2008). Differential regulation of dynein and kinesin motor proteins by tau. Science 319, 1086-1089. doi: 10.1126/science.1152993.
-
(2008)
Science
, vol.319
, pp. 1086-1089
-
-
Dixit, R.1
Ross, J.L.2
Goldman, Y.E.3
Holzbaur, E.L.4
-
28
-
-
0033545946
-
Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements
-
D'Souza, I., Poorkaj, P., Hong, M., Nochlin, D., Lee, V. M., Bird, T. D., et al. (1999). Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements. Proc. Natl. Acad. Sci. U S A 96, 5598-5603. doi: 10.1073/pnas.96.10.5598.
-
(1999)
Proc. Natl. Acad. Sci. U S A
, vol.96
, pp. 5598-5603
-
-
D'Souza, I.1
Poorkaj, P.2
Hong, M.3
Nochlin, D.4
Lee, V.M.5
Bird, T.D.6
-
29
-
-
0037135580
-
Tau Exon 10 expression involves a bipartite intron 10 regulatory sequence and weak 5' and 3' splice sites
-
D'Souza, I., and Schellenberg, G. D. (2002). Tau Exon 10 expression involves a bipartite intron 10 regulatory sequence and weak 5' and 3' splice sites. J. Biol. Chem. 277, 26587-26599. doi: 10.1074/jbc.m203794200.
-
(2002)
J. Biol. Chem
, vol.277
, pp. 26587-26599
-
-
D'Souza, I.1
Schellenberg, G.D.2
-
30
-
-
79952486918
-
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation
-
Dubourg, C., Sanlaville, D., Doco-Fenzy, M., Le Caignec, C., Missirian, C., Jaillard, S., et al. (2011). Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation. Eur. J. Med. Genet. 54, 144-151. doi: 10.1016/j.ejmg.2010.11.003.
-
(2011)
Eur. J. Med. Genet
, vol.54
, pp. 144-151
-
-
Dubourg, C.1
Sanlaville, D.2
Doco-Fenzy, M.3
Le Caignec, C.4
Missirian, C.5
Jaillard, S.6
-
31
-
-
79951873381
-
The frontotemporal dementia mutation R406W blocks tau's interaction with the membrane in an annexin A2-dependent manner
-
Gauthier-Kemper, A., Weissmann, C., Golovyashkina, N., Sebö-Lemke, Z., Drewes, G., Gerke, V., et al. (2011). The frontotemporal dementia mutation R406W blocks tau's interaction with the membrane in an annexin A2-dependent manner. J. Cell. Biol. 192, 647-661. doi: 10.1083/jcb.201007161.
-
(2011)
J. Cell. Biol
, vol.192
, pp. 647-661
-
-
Gauthier-Kemper, A.1
Weissmann, C.2
Golovyashkina, N.3
Sebö-Lemke, Z.4
Drewes, G.5
Gerke, V.6
-
32
-
-
84924980333
-
Advances in therapeutics for neurodegenerative tauopathies: moving toward the specific targeting of the most toxic tau species
-
Gerson, J. E., Castillo-Carranza, D. L., and Kayed, R. (2014). Advances in therapeutics for neurodegenerative tauopathies: moving toward the specific targeting of the most toxic tau species. ACS Chem. Neurosci. 5, 752-769. doi: 10.1021/cn500143n.
-
(2014)
ACS Chem. Neurosci
, vol.5
, pp. 752-769
-
-
Gerson, J.E.1
Castillo-Carranza, D.L.2
Kayed, R.3
-
33
-
-
84883502695
-
Formation and propagation of tau oligomeric seeds
-
Gerson, J. E., and Kayed, R. (2013). Formation and propagation of tau oligomeric seeds. Front. Neurol. 4:93. doi: 10.3389/fneur.2013.00093.
-
(2013)
Front. Neurol
, vol.4
, pp. 93
-
-
Gerson, J.E.1
Kayed, R.2
-
34
-
-
0025600995
-
Expression of separate isoforms of human tau protein: correlation with the tau pattern in brain and effects on tubulin polymerization
-
Goedert, M., and Jakes, R. (1990). Expression of separate isoforms of human tau protein: correlation with the tau pattern in brain and effects on tubulin polymerization. EMBO J. 9, 4225-4230.
-
(1990)
EMBO J
, vol.9
, pp. 4225-4230
-
-
Goedert, M.1
Jakes, R.2
-
35
-
-
0026595846
-
Tau proteins of Alzheimer paired helical filaments: abnormal phosphorylation of all six brain isoforms
-
Goedert, M., Spillantini, M. G., Cairns, N. J., and Crowther, R. A. (1992). Tau proteins of Alzheimer paired helical filaments: abnormal phosphorylation of all six brain isoforms. Neuron 8, 159-168. doi: 10.1016/0896-6273(92)90117-v.
-
(1992)
Neuron
, vol.8
, pp. 159-168
-
-
Goedert, M.1
Spillantini, M.G.2
Cairns, N.J.3
Crowther, R.A.4
-
36
-
-
0024387161
-
Cloning and sequencing of the cDNA encoding an isoform of microtubule-associated protein tau containing four tandem repeats: differential expression of tau protein mRNAs in human brain
-
Goedert, M., Spillantini, M. G., Potier, M. C., Ulrich, J., and Crowther, R. A. (1989a). Cloning and sequencing of the cDNA encoding an isoform of microtubule-associated protein tau containing four tandem repeats: differential expression of tau protein mRNAs in human brain. EMBO J. 8, 393-399.
-
(1989)
EMBO J
, vol.8
, pp. 393-399
-
-
Goedert, M.1
Spillantini, M.G.2
Potier, M.C.3
Ulrich, J.4
Crowther, R.A.5
-
37
-
-
0024745894
-
Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease
-
Goedert, M., Spillantini, M. G., Jakes, R., Rutherford, D., and Crowther, R. A. (1989b). Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease. Neuron 3, 519-526. doi: 10.1016/0896-6273(89)90210-9.
-
(1989)
Neuron
, vol.3
, pp. 519-526
-
-
Goedert, M.1
Spillantini, M.G.2
Jakes, R.3
Rutherford, D.4
Crowther, R.A.5
-
38
-
-
0002792366
-
Cloning and sequencing of the cDNA encoding a core protein of the paired helical filament of Alzheimer disease
-
Goedert, M., Wischik, C. M., Crowther, R. A., Walker, J. E., and Klug, A. (1988). Cloning and sequencing of the cDNA encoding a core protein of the paired helical filament of Alzheimer disease. Proc. Natl. Acad. Sci. U S A 85, 4051-4055. doi: 10.1073/pnas.85.11.4051.
-
(1988)
Proc. Natl. Acad. Sci. U S A
, vol.85
, pp. 4051-4055
-
-
Goedert, M.1
Wischik, C.M.2
Crowther, R.A.3
Walker, J.E.4
Klug, A.5
-
39
-
-
41149111293
-
Extracellular tau promotes intracellular calcium increase through M1 and M3 muscarinic receptors in neuronal cells
-
Gómez-Ramos, A., Díaz-Hernández, M., Rubio, A., Miras-Portugal, M. T., and Avila, J. (2008). Extracellular tau promotes intracellular calcium increase through M1 and M3 muscarinic receptors in neuronal cells. Mol. Cell. Neurosci. 37, 673-681. doi: 10.1016/j.mcn.2007.12.010.
-
(2008)
Mol. Cell. Neurosci
, vol.37
, pp. 673-681
-
-
Gómez-Ramos, A.1
Díaz-Hernández, M.2
Rubio, A.3
Miras-Portugal, M.T.4
Avila, J.5
-
40
-
-
0034624014
-
Structural and functional differences between 3-repeat and 4-repeat tau isoforms. Implications for normal tau function and the onset of neurodegenetative disease
-
Goode, B. L., Chau, M., Denis, P. E., and Feinstein, S. C. (2000). Structural and functional differences between 3-repeat and 4-repeat tau isoforms. Implications for normal tau function and the onset of neurodegenetative disease. J. Biol. Chem. 275, 38182-38189. doi: 10.1074/jbc.m007489200.
-
(2000)
J. Biol. Chem
, vol.275
, pp. 38182-38189
-
-
Goode, B.L.1
Chau, M.2
Denis, P.E.3
Feinstein, S.C.4
-
41
-
-
0028175215
-
Identification of a novel microtubule binding and assembly domain in the developmentally regulated inter-repeat region of tau
-
Goode, B. L., and Feinstein, S. C. (1994). Identification of a novel microtubule binding and assembly domain in the developmentally regulated inter-repeat region of tau. J. Cell Biol. 124, 769-782. doi: 10.1083/jcb.124.5.769.
-
(1994)
J. Cell Biol
, vol.124
, pp. 769-782
-
-
Goode, B.L.1
Feinstein, S.C.2
-
42
-
-
33847199377
-
A decade of tau transgenic animal models and beyond
-
Götz, J., Deters, N., Doldissen, A., Bokhari, L., Ke, Y., Wiesner, A., et al. (2007). A decade of tau transgenic animal models and beyond. Brain Pathol. 17, 91-103. doi: 10.1111/j.1750-3639.2007.00051.x.
-
(2007)
Brain Pathol
, vol.17
, pp. 91-103
-
-
Götz, J.1
Deters, N.2
Doldissen, A.3
Bokhari, L.4
Ke, Y.5
Wiesner, A.6
-
43
-
-
76649129325
-
Alzheimer Abeta peptide induces chromosome missegregation and aneuploidy, including trisomy 21, Requirement for tau and APP
-
Granic, A., Padmanabhan, J., Norden, M., and Potter, H. (2010). Alzheimer Abeta peptide induces chromosome missegregation and aneuploidy, including trisomy 21: Requirement for tau and APP. Mol. Biol. Cell 21, 511-520. doi: 10.1091/mbc.e09-10-0850.
-
(2010)
Mol. Biol. Cell
, vol.21
, pp. 511-520
-
-
Granic, A.1
Padmanabhan, J.2
Norden, M.3
Potter, H.4
-
44
-
-
84862682359
-
De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies
-
Gregor, A., Krumbiegel, M., Kraus, C., Reis, A., and Zweier, C. (2012). De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies. Am. J. Med. Genet 158A, 1765-1770. doi: 10.1002/ajmg.a.35427.
-
(2012)
Am. J. Med. Genet
, vol.158A
, pp. 1765-1770
-
-
Gregor, A.1
Krumbiegel, M.2
Kraus, C.3
Reis, A.4
Zweier, C.5
-
45
-
-
0037134098
-
Effects on splicing and protein function of three mutations in codon N296 of tau in vitro
-
Grover, A., DeTure, M., Yen, S. H., and Hutton, M. (2002). Effects on splicing and protein function of three mutations in codon N296 of tau in vitro. Neurosci. Lett. 323, 33-36. doi: 10.1016/s0304-3940(02)00124-6.
-
(2002)
Neurosci. Lett
, vol.323
, pp. 33-36
-
-
Grover, A.1
DeTure, M.2
Yen, S.H.3
Hutton, M.4
-
46
-
-
75149170584
-
A thorough assessment of benign genetic variability in GRN and MAPT
-
Guerreiro, R. J., Washecka, N., Hardy, J., and Singleton, A. (2010). A thorough assessment of benign genetic variability in GRN and MAPT. Hum. Mutat. 31, E1126-E1140. doi: 10.1002/humu.21152.
-
(2010)
Hum. Mutat
, vol.31
, pp. E1126-E1140
-
-
Guerreiro, R.J.1
Washecka, N.2
Hardy, J.3
Singleton, A.4
-
47
-
-
0028027088
-
Domains of tau protein and interactions with microtubules
-
Gustke, N., Trinczek, B., Biernat, J., Mandelkow, E. M., and Mandelkow, E. (1994). Domains of tau protein and interactions with microtubules. Biochemistry 33, 9511-9522. doi: 10.1021/bi00198a017.
-
(1994)
Biochemistry
, vol.33
, pp. 9511-9522
-
-
Gustke, N.1
Trinczek, B.2
Biernat, J.3
Mandelkow, E.M.4
Mandelkow, E.5
-
48
-
-
0032561415
-
Tau proteins with FTDP-17 mutations have a reduced ability to promote microtubule assembly
-
Hasegawa, M., Smith, M. J., and Goedert, M. (1998). Tau proteins with FTDP-17 mutations have a reduced ability to promote microtubule assembly. FEBS Lett. 437, 207-210. doi: 10.1016/s0014-5793(98)01217-4.
-
(1998)
FEBS Lett
, vol.437
, pp. 207-210
-
-
Hasegawa, M.1
Smith, M.J.2
Goedert, M.3
-
49
-
-
0033060662
-
FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10
-
Hasegawa, M., Smith, M. J., Iijima, M., Tabira, T., and Goedert, M. (1999). FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10. FEBS Lett. 443, 93-96. doi: 10.1016/s0014-5793(98)01696-2.
-
(1999)
FEBS Lett
, vol.443
, pp. 93-96
-
-
Hasegawa, M.1
Smith, M.J.2
Iijima, M.3
Tabira, T.4
Goedert, M.5
-
50
-
-
0036198120
-
Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation
-
Hayashi, S., Toyoshima, Y., Hasegawa, M., Umeda, Y., Wakabayashi, K., Tokiguchi, S., et al. (2002). Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation. Ann. Neurol. 51, 525-530. doi: 10.1002/ana.10163.
-
(2002)
Ann. Neurol
, vol.51
, pp. 525-530
-
-
Hayashi, S.1
Toyoshima, Y.2
Hasegawa, M.3
Umeda, Y.4
Wakabayashi, K.5
Tokiguchi, S.6
-
51
-
-
0032484089
-
Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17
-
Hong, M., Zhukareva, V., Vogelsberg-Ragaglia, V., Wszolek, Z., Reed, L., Miller, B. I., et al. (1998). Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17. Science 282, 1914-1917. doi: 10.1126/science.282.5395.1914.
-
(1998)
Science
, vol.282
, pp. 1914-1917
-
-
Hong, M.1
Zhukareva, V.2
Vogelsberg-Ragaglia, V.3
Wszolek, Z.4
Reed, L.5
Miller, B.I.6
-
52
-
-
84901272549
-
Rare autosomal copy number variations in early-onset familial Alzheimer's disease
-
Hooli, B. V., Kovacs-Vajna, Z. M., Mullin, K., Blumenthal, M. A., Mattheisen, M., Zhang, C., et al. (2014). Rare autosomal copy number variations in early-onset familial Alzheimer's disease. Mol. Psychiatry 19, 676-681. doi: 10.1038/mp.2013.77.
-
(2014)
Mol. Psychiatry
, vol.19
, pp. 676-681
-
-
Hooli, B.V.1
Kovacs-Vajna, Z.M.2
Mullin, K.3
Blumenthal, M.A.4
Mattheisen, M.5
Zhang, C.6
-
53
-
-
0012505469
-
Tau could protect DNA double helix structure
-
Hua, Q., and He, R. Q. (2003). Tau could protect DNA double helix structure. Biochim. Biophys. Acta 1645, 205-211. doi: 10.1016/s1570-9639(02)00538-1.
-
(2003)
Biochim. Biophys. Acta
, vol.1645
, pp. 205-211
-
-
Hua, Q.1
He, R.Q.2
-
54
-
-
0032543684
-
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17
-
Hutton, M., Lendon, C. L., Rizzu, P., Baker, M., Froelich, S., Houlden, H., et al. (1998). Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393, 702-705. doi: 10.1038/31508.
-
(1998)
Nature
, vol.393
, pp. 702-705
-
-
Hutton, M.1
Lendon, C.L.2
Rizzu, P.3
Baker, M.4
Froelich, S.5
Houlden, H.6
-
55
-
-
33845974450
-
Removal of pattern-breaking sequences in microtubule binding repeats produces instantaneous tau aggregation and toxicity
-
Iliev, A. I., Ganesan, S., Bunt, G., and Wouters, F. S. (2006). Removal of pattern-breaking sequences in microtubule binding repeats produces instantaneous tau aggregation and toxicity. J. Biol. Chem. 281, 37195-37204. doi: 10.1074/jbc.m604863200.
-
(2006)
J. Biol. Chem
, vol.281
, pp. 37195-37204
-
-
Iliev, A.I.1
Ganesan, S.2
Bunt, G.3
Wouters, F.S.4
-
56
-
-
18144445001
-
Microtubule-associated protein tau in human fibroblasts with the Swedish Alzheimer mutation
-
Ingelson, M., Vanmechelen, E., and Lannfelt, L. (1996). Microtubule-associated protein tau in human fibroblasts with the Swedish Alzheimer mutation. Neurosci. Lett. 220, 9-12. doi: 10.1016/s0304-3940(96)13218-3.
-
(1996)
Neurosci. Lett
, vol.220
, pp. 9-12
-
-
Ingelson, M.1
Vanmechelen, E.2
Lannfelt, L.3
-
57
-
-
67349142329
-
Mechanisms of tau-induced neurodegeneration
-
Iqbal, K., Liu, F., Gong, C. X., Alonso, A. C., and Grundke-Iqbal, I. (2009). Mechanisms of tau-induced neurodegeneration. Acta Neuropathol. 118, 53-69. doi: 10.1007/s00401-009-0486-3.
-
(2009)
Acta Neuropathol
, vol.118
, pp. 53-69
-
-
Iqbal, K.1
Liu, F.2
Gong, C.X.3
Alonso, A.C.4
Grundke-Iqbal, I.5
-
58
-
-
84884681457
-
A novel MAPT mutation, G55R, in a frontotemporal dementia patient leads to altered Tau function
-
Iyer, A., Lapointe, N. E., Zielke, K., Berdynski, M., Guzman, E., Barczak, A., et al. (2013). A novel MAPT mutation, G55R, in a frontotemporal dementia patient leads to altered Tau function. PLoS One 8:e76409. doi: 10.1371/journal.pone.0076409.
-
(2013)
PLoS One
, vol.8
-
-
Iyer, A.1
Lapointe, N.E.2
Zielke, K.3
Berdynski, M.4
Guzman, E.5
Barczak, A.6
-
59
-
-
33144463940
-
Global hairpin folding of tau in solution
-
Jeganathan, S., von Bergen, M., Brutlach, H., Steinhoff, H. J., and Mandelkow, E. (2006). Global hairpin folding of tau in solution. Biochemistry 45, 2283-2293. doi: 10.1021/bi0521543.
-
(2006)
Biochemistry
, vol.45
, pp. 2283-2293
-
-
Jeganathan, S.1
von Bergen, M.2
Brutlach, H.3
Steinhoff, H.J.4
Mandelkow, E.5
-
60
-
-
84868030363
-
Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort
-
Jin, S. C., Pastor, P., Cooper, B., Cervantes, S., Benitez, B. A., Razquin, C., et al. (2012). Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort. Alzheimers Res. Ther. 4:34. doi: 10.1186/alzrt137.
-
(2012)
Alzheimers Res. Ther
, vol.4
, pp. 34
-
-
Jin, S.C.1
Pastor, P.2
Cooper, B.3
Cervantes, S.4
Benitez, B.A.5
Razquin, C.6
-
61
-
-
84863445909
-
The MAPT p. A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features
-
2231.e7-2231.e14
-
Kara, E., Ling, H., Pittman, A. M., Shaw, K., de Silva, R., Simone, R., et al. (2012). The MAPT p. A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features. Neurobiol. Aging 33, 2231.e7-2231.e14. doi: 10.1016/j.neurobiolaging.2012.04.006.
-
(2012)
Neurobiol. Aging
, vol.33
-
-
Kara, E.1
Ling, H.2
Pittman, A.M.3
Shaw, K.4
de Silva, R.5
Simone, R.6
-
62
-
-
84893740090
-
Clinical and genetic analysis of MAPT, GRN and C9orf72 genes in Korean patients with frontotemporal dementia
-
1213.e13-1213.e17
-
Kim, E. J., Kwon, J. C., Park, K. H., Park, K. W., Lee, J. H., Choi, S. H., et al. (2014). Clinical and genetic analysis of MAPT, GRN and C9orf72 genes in Korean patients with frontotemporal dementia. Neurobiol. Aging 35, 1213.e13-1213.e17. doi: 10.1016/j.neurobiolaging.2013.11.033.
-
(2014)
Neurobiol. Aging
, vol.35
-
-
Kim, E.J.1
Kwon, J.C.2
Park, K.H.3
Park, K.W.4
Lee, J.H.5
Choi, S.H.6
-
63
-
-
84878860968
-
Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p. Ala239Thr MAPT (tau) variant
-
King, A., Al-Sarraj, S., Troakes, C., Smith, B. N., Maekawa, S., Iovino, M., et al. (2013). Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p. Ala239Thr MAPT (tau) variant. Acta Neuropathol. 125, 303-310. doi: 10.1007/s00401-012-1050-0.
-
(2013)
Acta Neuropathol
, vol.125
, pp. 303-310
-
-
King, A.1
Al-Sarraj, S.2
Troakes, C.3
Smith, B.N.4
Maekawa, S.5
Iovino, M.6
-
64
-
-
33748323156
-
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
-
Koolen, D. A., Vissers, L. E., Pfundt, R., de Leeuw, N., Knight, S. J., Regan, R., et al. (2006). A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat. Genet. 38, 999-1001. doi: 10.1038/ng1853.
-
(2006)
Nat. Genet
, vol.38
, pp. 999-1001
-
-
Koolen, D.A.1
Vissers, L.E.2
Pfundt, R.3
de Leeuw, N.4
Knight, S.J.5
Regan, R.6
-
65
-
-
84896813856
-
Novel mutation in MAPT exon 13 (p. N410H) causes corticobasal degeneration
-
Kouri, N., Carlomagno, Y., Baker, M., Liesinger, A. M., Caselli, R. J., Wszolek, Z. K., et al. (2014). Novel mutation in MAPT exon 13 (p. N410H) causes corticobasal degeneration. Acta Neuropathol. 127, 271-282. doi: 10.1007/s00401-013-1193-7.
-
(2014)
Acta Neuropathol
, vol.127
, pp. 271-282
-
-
Kouri, N.1
Carlomagno, Y.2
Baker, M.3
Liesinger, A.M.4
Caselli, R.J.5
Wszolek, Z.K.6
-
66
-
-
47749146164
-
MAPT S305I mutation: implications for argyrophilic grain disease
-
Kovacs, G. G., Pittman, A., Revesz, T., Luk, C., Lees, A., Kiss, E., et al. (2008). MAPT S305I mutation: implications for argyrophilic grain disease. Acta Neuropathol. 116, 103-118. doi: 10.1007/s00401-007-0322-6.
-
(2008)
Acta Neuropathol
, vol.116
, pp. 103-118
-
-
Kovacs, G.G.1
Pittman, A.2
Revesz, T.3
Luk, C.4
Lees, A.5
Kiss, E.6
-
67
-
-
78751618471
-
Unclassifiable tauopathy associated with an A152T variation in MAPT exon 7
-
Kovacs, G. G., Wöhrer, A., Ströbel, T., Botond, G., Attems, J., and Budka, H. (2011). Unclassifiable tauopathy associated with an A152T variation in MAPT exon 7. Clin. Neuropathol. 30, 3-10. doi: 10.5414/npp30003.
-
(2011)
Clin. Neuropathol
, vol.30
, pp. 3-10
-
-
Kovacs, G.G.1
Wöhrer, A.2
Ströbel, T.3
Botond, G.4
Attems, J.5
Budka, H.6
-
68
-
-
84878078985
-
Initiation of assembly of tau (273-284) and its δK280 mutant: an experimental and computational study
-
Larini, L., Gessel, M. M., LaPointe, N. E., Do, T. D., Bowers, M. T., Feinstein, S. C., et al. (2013). Initiation of assembly of tau (273-284) and its δK280 mutant: an experimental and computational study. Phys. Chem. Chem. Phys. 15, 8916-8928. doi: 10.1039/c3cp00063j.
-
(2013)
Phys. Chem. Chem. Phys
, vol.15
, pp. 8916-8928
-
-
Larini, L.1
Gessel, M.M.2
LaPointe, N.E.3
Do, T.D.4
Bowers, M.T.5
Feinstein, S.C.6
-
69
-
-
78649503285
-
Preparation and characterization of neurotoxic tau oligomers
-
Lasagna-Reeves, C. A., Castillo-Carranza, D. L., Guerrero-Muoz, M. J., Jackson, G. R., and Kayed, R. (2010). Preparation and characterization of neurotoxic tau oligomers. Biochemistry 49, 10039-10041. doi: 10.1021/bi1016233.
-
(2010)
Biochemistry
, vol.49
, pp. 10039-10041
-
-
Lasagna-Reeves, C.A.1
Castillo-Carranza, D.L.2
Guerrero-Muoz, M.J.3
Jackson, G.R.4
Kayed, R.5
-
70
-
-
0032542364
-
Genetic instabilities in human cancers
-
Lengauer, C., Kinzler, K. W., and Vogelstein, B. (1998). Genetic instabilities in human cancers. Nature 396, 643-649. doi: 10.1038/25292.
-
(1998)
Nature
, vol.396
, pp. 643-649
-
-
Lengauer, C.1
Kinzler, K.W.2
Vogelstein, B.3
-
71
-
-
17144409371
-
Three-and four-repeat tau regulate the dynamic instability of two distinct microtubule subpopulations in qualitatively different manners. Implications for neurodegeneration
-
Levy, S. F., Leboeuf, A. C., Massie, M. R., Jordan, M. A., Wilson, L., and Feinstein, S. C. (2005). Three-and four-repeat tau regulate the dynamic instability of two distinct microtubule subpopulations in qualitatively different manners. Implications for neurodegeneration. J. Biol. Chem. 280, 13520-13528. doi: 10.1074/jbc.m413490200.
-
(2005)
J. Biol. Chem
, vol.280
, pp. 13520-13528
-
-
Levy, S.F.1
Leboeuf, A.C.2
Massie, M.R.3
Jordan, M.A.4
Wilson, L.5
Feinstein, S.C.6
-
72
-
-
84884150340
-
TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p. Q124E MAPT
-
2889.e5-2889.e9
-
Ling, H., Kara, E., Bandopadhyay, R., Hardy, J., Holton, J., Xiromerisiou, G., et al. (2013). TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p. Q124E MAPT. Neurobiol. Aging 34, 2889.e5-2889.e9. doi: 10.1016/j.neurobiolaging.2013.04.011.
-
(2013)
Neurobiol. Aging
, vol.34
-
-
Ling, H.1
Kara, E.2
Bandopadhyay, R.3
Hardy, J.4
Holton, J.5
Xiromerisiou, G.6
-
73
-
-
0033674152
-
Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation
-
Lippa, C. F., Zhukareva, V., Kawarai, T., Uryu, K., Shafiq, M., Nee, L. E., et al. (2000). Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation. Ann. Neurol. 48, 850-858. doi: 10.1002/1531-8249(200012)48:6<850::aid-ana5>3.3.co;2-m.
-
(2000)
Ann. Neurol
, vol.48
, pp. 850-858
-
-
Lippa, C.F.1
Zhukareva, V.2
Kawarai, T.3
Uryu, K.4
Shafiq, M.5
Nee, L.E.6
-
74
-
-
33244456786
-
Increased levels of granular tau oligomers: an early sign of brain aging and Alzheimer's disease
-
Maeda, S., Sahara, N., Saito, Y., Murayama, S., Ikai, A., and Takashima, A. (2006). Increased levels of granular tau oligomers: an early sign of brain aging and Alzheimer's disease. Neurosci. Res. 54, 197-201. doi: 10.1016/j.neures.2005.11.009.
-
(2006)
Neurosci. Res
, vol.54
, pp. 197-201
-
-
Maeda, S.1
Sahara, N.2
Saito, Y.3
Murayama, S.4
Ikai, A.5
Takashima, A.6
-
75
-
-
35649028013
-
Interaction of tau protein with the dynactin complex
-
Magnani, E., Fan, J., Gasparini, L., Golding, M., Williams, M., Schiavo, G., et al. (2007). Interaction of tau protein with the dynactin complex. EMBO J. 26, 4546-4554. doi: 10.1038/sj.emboj.7601878.
-
(2007)
EMBO J
, vol.26
, pp. 4546-4554
-
-
Magnani, E.1
Fan, J.2
Gasparini, L.3
Golding, M.4
Williams, M.5
Schiavo, G.6
-
76
-
-
33746206545
-
MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia
-
Malkani, R., D'Souza, I., Gwinn-Hardy, K., Schellenberg, G. D., Hardy, J., and Momeni, P. A. (2006). MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia. Neurobiol. Dis. 22, 401-403. doi: 10.1016/j.nbd.2005.12.001.
-
(2006)
Neurobiol. Dis
, vol.22
, pp. 401-403
-
-
Malkani, R.1
D'Souza, I.2
Gwinn-Hardy, K.3
Schellenberg, G.D.4
Hardy, J.5
Momeni, P.A.6
-
77
-
-
84863871956
-
Biochemistry and cell biology of tau protein in neurofibrillary degeneration
-
Mandelkow, E. M., and Mandelkow, E. (2012). Biochemistry and cell biology of tau protein in neurofibrillary degeneration. Cold Spring Harb. Perspect. Med. 2:a006247. doi: 10.1101/cshperspect.a006247.
-
(2012)
Cold Spring Harb. Perspect. Med
, vol.2
-
-
Mandelkow, E.M.1
Mandelkow, E.2
-
78
-
-
84855808679
-
DLB and PDD: a role for mutations in dementia and Parkinson disease genes?
-
629.e5-629.e18
-
Meeus, B., Verstraeten, A., Crosiers, D., Engelborghs, S., Van den Broeck, M., Mattheijssens, M., et al. (2012). DLB and PDD: a role for mutations in dementia and Parkinson disease genes? Neurobiol. Aging 33, 629.e5-629.e18. doi: 10.1016/j.neurobiolaging.2011.10.014.
-
(2012)
Neurobiol. Aging
, vol.33
-
-
Meeus, B.1
Verstraeten, A.2
Crosiers, D.3
Engelborghs, S.4
Van den Broeck, M.5
Mattheijssens, M.6
-
79
-
-
58849137188
-
Clinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutation
-
Momeni, P., Pittman, A., Lashley, T., Vandrovcova, J., Malzer, E., Luk, C., et al. (2009). Clinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutation. Neurobiol. Aging 30, 388-393. doi: 10.1016/j.neurobiolaging.2007.07.013.
-
(2009)
Neurobiol. Aging
, vol.30
, pp. 388-393
-
-
Momeni, P.1
Pittman, A.2
Lashley, T.3
Vandrovcova, J.4
Malzer, E.5
Luk, C.6
-
80
-
-
84874962380
-
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS
-
Mori, K., Wenig, S. M., Arzberger, T., May, S., Rentzsch, K., Kremmer, E., et al. (2013). The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 339, 1335-1338. doi: 10.1126/science.1232927.
-
(2013)
Science
, vol.339
, pp. 1335-1338
-
-
Mori, K.1
Wenig, S.M.2
Arzberger, T.3
May, S.4
Rentzsch, K.5
Kremmer, E.6
-
81
-
-
79955670132
-
The many faces of tau
-
Morris, M., Maeda, S., Vossel, K., and Mucke, L. (2011). The many faces of tau. Neuron 70, 410-426. doi: 10.1016/j.neuron.2011.04.009.
-
(2011)
Neuron
, vol.70
, pp. 410-426
-
-
Morris, M.1
Maeda, S.2
Vossel, K.3
Mucke, L.4
-
82
-
-
61349120815
-
Structural polymorphism of 441-residue tau at single residue resolution
-
Mukrasch, M. D., Bibow, S., Korukottu, J., Jeganathan, S., Biernat, J., Griesinger, C., et al. (2009). Structural polymorphism of 441-residue tau at single residue resolution. PLoS Biol. 7:e34. doi: 10.1371/journal.pbio.1000034.
-
(2009)
PLoS Biol
, vol.7
-
-
Mukrasch, M.D.1
Bibow, S.2
Korukottu, J.3
Jeganathan, S.4
Biernat, J.5
Griesinger, C.6
-
83
-
-
21644446496
-
Sites of tau important for aggregation populate beta-structure and bind to microtubules and polyanions
-
Mukrasch, M. D., Biernat, J., von Bergen, M., Griesinger, C., Mandelkow, E., and Zweckstetter, M. (2005). Sites of tau important for aggregation populate beta-structure and bind to microtubules and polyanions. J. Biol. Chem. 280, 24978-24986. doi: 10.1074/jbc.m501565200.
-
(2005)
J. Biol. Chem
, vol.280
, pp. 24978-24986
-
-
Mukrasch, M.D.1
Biernat, J.2
von Bergen, M.3
Griesinger, C.4
Mandelkow, E.5
Zweckstetter, M.6
-
84
-
-
0032763203
-
Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits
-
Murrell, J. R., Spillantini, M. G., Zolo, P., Guazzelli, M., Smith, M. J., Hasegawa, M., et al. (1999). Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits. J. Neuropathol. Exp. Neurol. 58, 1207-1226. doi: 10.1097/00005072-199912000-00002.
-
(1999)
J. Neuropathol. Exp. Neurol
, vol.58
, pp. 1207-1226
-
-
Murrell, J.R.1
Spillantini, M.G.2
Zolo, P.3
Guazzelli, M.4
Smith, M.J.5
Hasegawa, M.6
-
85
-
-
33847178181
-
The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts
-
Myers, A. J., Pittman, A. M., Zhao, A. S., Rohrer, K., Kaleem, M., Marlowe, L., et al. (2007). The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts. Neurobiol. Dis. 25, 561-570. doi: 10.1016/j.nbd.2006.10.018.
-
(2007)
Neurobiol. Dis
, vol.25
, pp. 561-570
-
-
Myers, A.J.1
Pittman, A.M.2
Zhao, A.S.3
Rohrer, K.4
Kaleem, M.5
Marlowe, L.6
-
86
-
-
0034790437
-
Pick's disease associated with the novel Tau gene mutation K369I
-
Neumann, M., Schulz-Schaeffer, W., Crowther, R. A., Smith, M. J., Spillantini, M. G., Goedert, M., et al. (2001). Pick's disease associated with the novel Tau gene mutation K369I. Ann. Neurol. 50, 503-513. doi: 10.1002/ana.1223.
-
(2001)
Ann. Neurol
, vol.50
, pp. 503-513
-
-
Neumann, M.1
Schulz-Schaeffer, W.2
Crowther, R.A.3
Smith, M.J.4
Spillantini, M.G.5
Goedert, M.6
-
87
-
-
0242290057
-
An English kindred with a novel recessive tauopathy and respiratory failure
-
Nicholl, D. J., Greenstone, M. A., Clarke, C. E., Rizzu, P., Crooks, D., Crowe, A., et al. (2003). An English kindred with a novel recessive tauopathy and respiratory failure. Ann. Neurol. 54, 682-686. doi: 10.1002/ana.10747.
-
(2003)
Ann. Neurol
, vol.54
, pp. 682-686
-
-
Nicholl, D.J.1
Greenstone, M.A.2
Clarke, C.E.3
Rizzu, P.4
Crooks, D.5
Crowe, A.6
-
88
-
-
33750596714
-
Mutations in progranulin explain atypical phenotypes with variants in MAPT
-
Pickering-Brown, S. M., Baker, M., Gass, J., Boeve, B. F., Loy, C. T., Brooks, W. S., et al. (2006). Mutations in progranulin explain atypical phenotypes with variants in MAPT. Brain 129, 3124-3126. doi: 10.1093/brain/awl289.
-
(2006)
Brain
, vol.129
, pp. 3124-3126
-
-
Pickering-Brown, S.M.1
Baker, M.2
Gass, J.3
Boeve, B.F.4
Loy, C.T.5
Brooks, W.S.6
-
89
-
-
2942590743
-
Frontotemporal dementia with Pick-type histology associated with Q336R mutation in the tau gene
-
Pickering-Brown, S. M., Baker, M., Nonaka, T., Ikeda, K., Sharma, S., Mackenzie, J., et al. (2004). Frontotemporal dementia with Pick-type histology associated with Q336R mutation in the tau gene. Brain 127, 1415-1426. doi: 10.1093/brain/awh147.
-
(2004)
Brain
, vol.127
, pp. 1415-1426
-
-
Pickering-Brown, S.M.1
Baker, M.2
Nonaka, T.3
Ikeda, K.4
Sharma, S.5
Mackenzie, J.6
-
90
-
-
0036205905
-
Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene
-
Pickering-Brown, S. M., Richardson, A. M., Snowden, J. S., McDonagh, A. M., Burns, A., Braude, W., et al. (2002). Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene. Brain 125, 732-751. doi: 10.1093/brain/awf069.
-
(2002)
Brain
, vol.125
, pp. 732-751
-
-
Pickering-Brown, S.M.1
Richardson, A.M.2
Snowden, J.S.3
McDonagh, A.M.4
Burns, A.5
Braude, W.6
-
91
-
-
0033669232
-
Pick's disease is associated with mutations in the tau gene
-
Pickering-Brown, S., Baker, M., Yen, S. H., Liu, W. K., Hasegawa, M., Cairns, N., et al. (2000). Pick's disease is associated with mutations in the tau gene. Ann. Neurol. 48, 859-867. doi: 10.1002/1531-8249(200012)48:6<859::aid-ana6>3.3.co;2-t.
-
(2000)
Ann. Neurol
, vol.48
, pp. 859-867
-
-
Pickering-Brown, S.1
Baker, M.2
Yen, S.H.3
Liu, W.K.4
Hasegawa, M.5
Cairns, N.6
-
92
-
-
24644502474
-
Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration
-
Pittman, A. M., Myers, A. J., Abou-Sleiman, P., Fung, H. C., Kaleem, M., Marlowe, L., et al. (2005). Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration. J. Med. Genet. 42, 837-846. doi: 10.1136/jmg.2005.031377.
-
(2005)
J. Med. Genet
, vol.42
, pp. 837-846
-
-
Pittman, A.M.1
Myers, A.J.2
Abou-Sleiman, P.3
Fung, H.C.4
Kaleem, M.5
Marlowe, L.6
-
93
-
-
0036771837
-
An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype
-
Poorkaj, P., Muma, N. A., Zhukareva, V., Cochran, E. J., Shannon, K. M., Hurtig, H., et al. (2002). An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype. Ann. Neurol. 52, 511-516. doi: 10.1002/ana.10340.
-
(2002)
Ann. Neurol
, vol.52
, pp. 511-516
-
-
Poorkaj, P.1
Muma, N.A.2
Zhukareva, V.3
Cochran, E.J.4
Shannon, K.M.5
Hurtig, H.6
-
94
-
-
84864981763
-
Advances in understanding the molecular basis of frontotemporal dementia
-
Rademakers, R., Neumann, M., and Mackenzie, I. R. (2012). Advances in understanding the molecular basis of frontotemporal dementia. Nat. Rev. Neurol. 8, 423-434. doi: 10.1038/nrneurol.2012.117.
-
(2012)
Nat. Rev. Neurol
, vol.8
, pp. 423-434
-
-
Rademakers, R.1
Neumann, M.2
Mackenzie, I.R.3
-
95
-
-
0033070197
-
High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands
-
Rizzu, P., Van Swieten, J. C., Joosse, M., Hasegawa, M., Stevens, M., Tibben, A., et al. (1999). High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am. J. Hum. Genet. 64, 414-421. doi: 10.1086/302256.
-
(1999)
Am. J. Hum. Genet
, vol.64
, pp. 414-421
-
-
Rizzu, P.1
Van Swieten, J.C.2
Joosse, M.3
Hasegawa, M.4
Stevens, M.5
Tibben, A.6
-
96
-
-
81855185515
-
Phenotypic signatures of genetic frontotemporal dementia
-
Rohrer, J. D., and Warren, J. D. (2011). Phenotypic signatures of genetic frontotemporal dementia. Curr. Opin. Neurol. 24, 542-549. doi: 10.1097/wco.0b013e32834cd442.
-
(2011)
Curr. Opin. Neurol
, vol.24
, pp. 542-549
-
-
Rohrer, J.D.1
Warren, J.D.2
-
97
-
-
70449365115
-
The heritability and genetics of frontotemporal lobar degeneration
-
Rohrer, J. D., Guerreiro, R., Vandrovcova, J., Uphill, J., Reiman, D., Beck, J., et al. (2009). The heritability and genetics of frontotemporal lobar degeneration. Neurology 73, 1451-1456. doi: 10.1212/WNL.0b013e3181bf997a.
-
(2009)
Neurology
, vol.73
, pp. 1451-1456
-
-
Rohrer, J.D.1
Guerreiro, R.2
Vandrovcova, J.3
Uphill, J.4
Reiman, D.5
Beck, J.6
-
98
-
-
0032760670
-
Mutation screening of the tau gene in patients with early-onset Alzheimer's disease
-
Roks, G., Dermaut, B., Heutink, P., Julliams, A., Backhovens, H., Van de Broeck, M., et al. (1999). Mutation screening of the tau gene in patients with early-onset Alzheimer's disease. Neurosci. Lett. 277, 137-139. doi: 10.1016/s0304-3940(99)00861-7.
-
(1999)
Neurosci. Lett
, vol.277
, pp. 137-139
-
-
Roks, G.1
Dermaut, B.2
Heutink, P.3
Julliams, A.4
Backhovens, H.5
Van de Broeck, M.6
-
99
-
-
84856956436
-
New mutations in MAPT gene causing frontotemporal lobar degeneration: biochemical and structural characterization
-
834.e1-834.e6
-
Rossi, G., Bastone, A., Piccoli, E., Mazzoleni, G., Morbin, M., Uggetti, A., et al. (2012). New mutations in MAPT gene causing frontotemporal lobar degeneration: biochemical and structural characterization. Neurobiol. Aging 33, 834.e1-834.e6. doi: 10.1016/j.neurobiolaging.2011.08.008.
-
(2012)
Neurobiol. Aging
, vol.33
-
-
Rossi, G.1
Bastone, A.2
Piccoli, E.3
Mazzoleni, G.4
Morbin, M.5
Uggetti, A.6
-
100
-
-
84887232005
-
Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features
-
Rossi, G., Bastone, A., Piccoli, E., Morbin, M., Mazzoleni, G., Fugnanesi, V., et al. (2014a). Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features. Neurobiol. Aging 35, 408-417. doi: 10.1016/j.neurobiolaging.2013.08.004.
-
(2014)
Neurobiol. Aging
, vol.35
, pp. 408-417
-
-
Rossi, G.1
Bastone, A.2
Piccoli, E.3
Morbin, M.4
Mazzoleni, G.5
Fugnanesi, V.6
-
101
-
-
84897954434
-
Mutations in MAPT give rise to aneuploidy in animal models of tauopathy
-
Rossi, G., Conconi, D., Panzeri, E., Paoletta, L., Piccoli, E., Ferretti, M. G., et al. (2014b). Mutations in MAPT give rise to aneuploidy in animal models of tauopathy. Neurogenetics 15, 31-40. doi: 10.1007/s10048-013-0380-y.
-
(2014)
Neurogenetics
, vol.15
, pp. 31-40
-
-
Rossi, G.1
Conconi, D.2
Panzeri, E.3
Paoletta, L.4
Piccoli, E.5
Ferretti, M.G.6
-
102
-
-
84873678744
-
Mutations in MAPT gene cause chromosome instability and introduce copy number variations widely in the genome
-
Rossi, G., Conconi, D., Panzeri, E., Redaelli, S., Piccoli, E., Paoletta, L., et al. (2013). Mutations in MAPT gene cause chromosome instability and introduce copy number variations widely in the genome. J. Alzheimers. Dis. 33, 969-982. doi: 10.3233/JAD-2012-121633.
-
(2013)
J. Alzheimers. Dis
, vol.33
, pp. 969-982
-
-
Rossi, G.1
Conconi, D.2
Panzeri, E.3
Redaelli, S.4
Piccoli, E.5
Paoletta, L.6
-
103
-
-
47249111324
-
A new function of microtubule-associated protein tau: involvement in chromosome stability
-
Rossi, G., Dalprà, L., Crosti, F., Lissoni, S., Sciacca, F. L., Catania, M., et al. (2008a). A new function of microtubule-associated protein tau: involvement in chromosome stability. Cell Cycle 7, 1788-1794. doi: 10.4161/cc.7.12.6012.
-
(2008)
Cell Cycle
, vol.7
, pp. 1788-1794
-
-
Rossi, G.1
Dalprà, L.2
Crosti, F.3
Lissoni, S.4
Sciacca, F.L.5
Catania, M.6
-
104
-
-
52449099214
-
The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome
-
Rossi, G., Marelli, C., Farina, L., Laurà, M., Maria Basile, A., Ciano, C., et al. (2008b). The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome. Mov. Disord. 23, 892-895. doi: 10.1002/mds.21970.
-
(2008)
Mov. Disord
, vol.23
, pp. 892-895
-
-
Rossi, G.1
Marelli, C.2
Farina, L.3
Laurà, M.4
Maria Basile, A.5
Ciano, C.6
-
105
-
-
77957284490
-
Frontotemporal dementia phenotype associated with MAPT gene duplication
-
Rovelet-Lecrux, A., Hannequin, D., Guillin, O., Legallic, S., Jurici, S., Wallon, D., et al. (2010). Frontotemporal dementia phenotype associated with MAPT gene duplication. J. Alzheimers Dis. 21, 897-902. doi: 10.3233/JAD-2010-100441.
-
(2010)
J. Alzheimers Dis
, vol.21
, pp. 897-902
-
-
Rovelet-Lecrux, A.1
Hannequin, D.2
Guillin, O.3
Legallic, S.4
Jurici, S.5
Wallon, D.6
-
106
-
-
63749104739
-
Partial deletion of the MAPT gene: a novel mechanism of FTDP-17
-
Rovelet-Lecrux, A., Lecourtois, M., Thomas-Anterion, C., Le Ber, I., Brice, A., Frebourg, T., et al. (2009). Partial deletion of the MAPT gene: a novel mechanism of FTDP-17. Hum. Mutat. 30, E591-E602. doi: 10.1002/humu.20979.
-
(2009)
Hum. Mutat
, vol.30
, pp. E591-E602
-
-
Rovelet-Lecrux, A.1
Lecourtois, M.2
Thomas-Anterion, C.3
Le Ber, I.4
Brice, A.5
Frebourg, T.6
-
107
-
-
33748333194
-
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
-
Sharp, A. J., Hansen, S., Selzer, R. R., Cheng, Z., Regan, R., Hurst, J. A., et al. (2006). Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat. Genet. 38, 1038-1042. doi: 10.1038/ng1862.
-
(2006)
Nat. Genet
, vol.38
, pp. 1038-1042
-
-
Sharp, A.J.1
Hansen, S.2
Selzer, R.R.3
Cheng, Z.4
Regan, R.5
Hurst, J.A.6
-
108
-
-
33745184916
-
Tau protein binds to pericentromeric DNA: a putative role for nuclear tau in nucleolar organization
-
Sjöberg, M. K., Shestakova, E., Mansuroglu, Z., Maccioni, R. B., and Bonnefoy, E. (2006). Tau protein binds to pericentromeric DNA: a putative role for nuclear tau in nucleolar organization. J. Cell Sci. 119, 2025-2034. doi: 10.1242/jcs.02907.
-
(2006)
J. Cell Sci
, vol.119
, pp. 2025-2034
-
-
Sjöberg, M.K.1
Shestakova, E.2
Mansuroglu, Z.3
Maccioni, R.B.4
Bonnefoy, E.5
-
109
-
-
0034051721
-
Tau mutations in familial frontotemporal dementia
-
Spillantini, M. G., and Goedert, M. (2000). Tau mutations in familial frontotemporal dementia. Brain 123, 857-859. doi: 10.1093/brain/123.5.857.
-
(2000)
Brain
, vol.123
, pp. 857-859
-
-
Spillantini, M.G.1
Goedert, M.2
-
110
-
-
84877906835
-
Tau pathology and neurodegeneration
-
Spillantini, M. G., and Goedert, M. (2013). Tau pathology and neurodegeneration. Lancet Neurol. 12, 609-622. doi: 10.1016/S1474-4422(13)70090-5.
-
(2013)
Lancet Neurol
, vol.12
, pp. 609-622
-
-
Spillantini, M.G.1
Goedert, M.2
-
111
-
-
0032560487
-
Mutation in the tau gene in familial multiple system tauopathy with presenile dementia
-
Spillantini, M. G., Murrell, J. R., Goedert, M., Farlow, M. R., Klug, A., and Ghetti, B. (1998). Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc. Natl. Acad. Sci. U S A 95, 7737-7741. doi: 10.1073/pnas.95.13.7737.
-
(1998)
Proc. Natl. Acad. Sci. U S A
, vol.95
, pp. 7737-7741
-
-
Spillantini, M.G.1
Murrell, J.R.2
Goedert, M.3
Farlow, M.R.4
Klug, A.5
Ghetti, B.6
-
112
-
-
61649085621
-
Tau pathophysiology in neurodegeneration: a tangled issue
-
Spires-Jones, T. L., Stoothoff, W. H., de Calignon, A., Jones, P. B., and Hyman, B. T. (2009). Tau pathophysiology in neurodegeneration: a tangled issue. Trends Neurosci. 32, 150-159. doi: 10.1016/j.tins.2008.11.007.
-
(2009)
Trends Neurosci
, vol.32
, pp. 150-159
-
-
Spires-Jones, T.L.1
Stoothoff, W.H.2
de Calignon, A.3
Jones, P.B.4
Hyman, B.T.5
-
113
-
-
0032786370
-
Prominent axonopathy in the brain and spinal cord of transgenic mice overexpressing four repeat human tau protein
-
Spittaels, K., Van den Haute, C., Van Dorpe, J., Bruynseels, K., Vandezande, K., Laenen, I., et al. (1999). Prominent axonopathy in the brain and spinal cord of transgenic mice overexpressing four repeat human tau protein. Am. J. Pathol. 155, 2153-2165. doi: 10.1016/s0002-9440(10)65533-2.
-
(1999)
Am. J. Pathol
, vol.155
, pp. 2153-2165
-
-
Spittaels, K.1
Van den Haute, C.2
Van Dorpe, J.3
Bruynseels, K.4
Vandezande, K.5
Laenen, I.6
-
114
-
-
0034731461
-
Glycogen synthase kinase-3beta phosphorylates protein tau and rescues the axonopathy in the central nervous system of human four-repeat tau transgenic mice
-
Spittaels, K., Van den Haute, C., Van Dorpe, J., Geerts, H., Mercken, M., Bruynseels, K., et al. (2000). Glycogen synthase kinase-3beta phosphorylates protein tau and rescues the axonopathy in the central nervous system of human four-repeat tau transgenic mice. J. Biol. Chem. 275, 41340-41349. doi: 10.1074/jbc.m006219200.
-
(2000)
J. Biol. Chem
, vol.275
, pp. 41340-41349
-
-
Spittaels, K.1
Van den Haute, C.2
Van Dorpe, J.3
Geerts, H.4
Mercken, M.5
Bruynseels, K.6
-
115
-
-
0034093228
-
Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations
-
Stanford, P. M., Halliday, G. M., Brooks, W. S., Kwok, J. B., Storey, C. E., Creasey, H., et al. (2000). Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations. Brain 123, 880-893. doi: 10.1093/brain/123.5.880.
-
(2000)
Brain
, vol.123
, pp. 880-893
-
-
Stanford, P.M.1
Halliday, G.M.2
Brooks, W.S.3
Kwok, J.B.4
Storey, C.E.5
Creasey, H.6
-
116
-
-
0242317909
-
Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia
-
Stanford, P. M., Shepherd, C. E., Halliday, G. M., Brooks, W. S., Schofield, P. W., Brodaty, H., et al. (2003). Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia. Brain 126, 814-826. doi: 10.1093/brain/awg090.
-
(2003)
Brain
, vol.126
, pp. 814-826
-
-
Stanford, P.M.1
Shepherd, C.E.2
Halliday, G.M.3
Brooks, W.S.4
Schofield, P.W.5
Brodaty, H.6
-
117
-
-
13944278863
-
A common inversion under selection in Europeans
-
Stefansson, H., Helgason, A., Thorleifsson, G., Steinthorsdottir, V., Masson, G., Barnard, J., et al. (2005). A common inversion under selection in Europeans. Nat. Genet. 37, 129-137. doi: 10.1038/ng1508.
-
(2005)
Nat. Genet
, vol.37
, pp. 129-137
-
-
Stefansson, H.1
Helgason, A.2
Thorleifsson, G.3
Steinthorsdottir, V.4
Masson, G.5
Barnard, J.6
-
118
-
-
84891837451
-
The human gene mutation database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
-
Stenson, P. D., Mort, M., Ball, E. V., Shaw, K., Phillips, A. D., and Cooper, D. N. (2014). The human gene mutation database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum. Genet. 133, 1-9. doi: 10.1007/s00439-013-1358-4.
-
(2014)
Hum. Genet
, vol.133
, pp. 1-9
-
-
Stenson, P.D.1
Mort, M.2
Ball, E.V.3
Shaw, K.4
Phillips, A.D.5
Cooper, D.N.6
-
119
-
-
79953003312
-
Nuclear tau, a key player in neuronal DNA protection
-
Sultan, A., Nesslany, F., Violet, M., Bégard, S., Loyens, A., Talahari, S., et al. (2011). Nuclear tau, a key player in neuronal DNA protection. J. Biol. Chem. 286, 4566-4575. doi: 10.1074/jbc.m110.199976.
-
(2011)
J. Biol. Chem
, vol.286
, pp. 4566-4575
-
-
Sultan, A.1
Nesslany, F.2
Violet, M.3
Bégard, S.4
Loyens, A.5
Talahari, S.6
-
120
-
-
58249087544
-
The +347 C promoter allele up-regulates MAPT expression and is associated with Alzheimer's disease among the Chinese Han
-
Sun, W., and Jia, J. (2009). The +347 C promoter allele up-regulates MAPT expression and is associated with Alzheimer's disease among the Chinese Han. Neurosci. Lett. 450, 340-343. doi: 10.1016/j.neulet.2008.11.067.
-
(2009)
Neurosci. Lett
, vol.450
, pp. 340-343
-
-
Sun, W.1
Jia, J.2
-
121
-
-
84937818139
-
A novel tau mutation, p. K317N, causes globular glial tauopathy
-
Tacik, P., DeTure, M., Lin, W. L., Sanchez Contreras, M., Wojtas, A., Hinkle, K. M., et al. (2015). A novel tau mutation, p. K317N, causes globular glial tauopathy. Acta Neuropathol. 130, 199-214. doi: 10.1007/s00401-015-1425-0.
-
(2015)
Acta Neuropathol
, vol.130
, pp. 199-214
-
-
Tacik, P.1
DeTure, M.2
Lin, W.L.3
Sanchez Contreras, M.4
Wojtas, A.5
Hinkle, K.M.6
-
122
-
-
0029993245
-
Tau as a nucleolar protein in human nonneural cells in vitro and in vivo
-
Thurston, V. C., Zinkowski, R. P., and Binder, L. I. (1996). Tau as a nucleolar protein in human nonneural cells in vitro and in vivo. Chromosoma 105, 20-30. doi: 10.1007/bf02510035.
-
(1996)
Chromosoma
, vol.105
, pp. 20-30
-
-
Thurston, V.C.1
Zinkowski, R.P.2
Binder, L.I.3
-
123
-
-
0028820411
-
Domains of tau protein, differential phosphorylation and dynamic instability of microtubules
-
Trinczek, B., Biernat, J., Baumann, K., Mandelkow, E. M., and Mandelkow, E. (1995). Domains of tau protein, differential phosphorylation and dynamic instability of microtubules. Mol. Biol. Cell 6, 1887-1902. doi: 10.1091/mbc.6.12.1887.
-
(1995)
Mol. Biol. Cell
, vol.6
, pp. 1887-1902
-
-
Trinczek, B.1
Biernat, J.2
Baumann, K.3
Mandelkow, E.M.4
Mandelkow, E.5
-
124
-
-
0142177169
-
Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R
-
van Herpen, E., Rosso, S. M., Serverijnen, L. A., Yoshida, H., Breedveld, G., van de Graaf, R., et al. (2003). Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R. Ann. Neurol. 54, 573-581. doi: 10.1002/ana.10721.
-
(2003)
Ann. Neurol
, vol.54
, pp. 573-581
-
-
van Herpen, E.1
Rosso, S.M.2
Serverijnen, L.A.3
Yoshida, H.4
Breedveld, G.5
van de Graaf, R.6
-
125
-
-
33846080979
-
The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivo
-
van Swieten, J. C., Bronner, I. F., Azmani, A., Severijnen, L. A., Kamphorst, W., Ravid, R., et al. (2007). The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivo. J. Neuropathol. Exp. Neurol. 66, 17-25. doi: 10.1097/nen.0b013e31802c39a4.
-
(2007)
J. Neuropathol. Exp. Neurol
, vol.66
, pp. 17-25
-
-
van Swieten, J.C.1
Bronner, I.F.2
Azmani, A.3
Severijnen, L.A.4
Kamphorst, W.5
Ravid, R.6
-
126
-
-
0033529304
-
Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17
-
Varani, L., Hasegawa, M., Spillantini, M. G., Smith, M. J., Murrell, J. R., Ghetti, B., et al. (1999). Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17. Proc. Natl. Acad. Sci. U S A 96, 8229-8234. doi: 10.1073/pnas.96.14.8229.
-
(1999)
Proc. Natl. Acad. Sci. U S A
, vol.96
, pp. 8229-8234
-
-
Varani, L.1
Hasegawa, M.2
Spillantini, M.G.3
Smith, M.J.4
Murrell, J.R.5
Ghetti, B.6
-
127
-
-
33744987916
-
A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient
-
Varela, M. C., Krepischi-Santos, A. C., Paz, J. A., Knijnenburg, J., Szuhai, K., Rosenberg, C., et al. (2006). A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient. Cytogenet. Genome Res. 114, 89-92. doi: 10.1159/000091934.
-
(2006)
Cytogenet. Genome Res
, vol.114
, pp. 89-92
-
-
Varela, M.C.1
Krepischi-Santos, A.C.2
Paz, J.A.3
Knijnenburg, J.4
Szuhai, K.5
Rosenberg, C.6
-
128
-
-
84896919828
-
A major role for Tau in neuronal DNA and RNA protection in vivo under physiological and hyperthermic conditions
-
Violet, M., Delattre, L., Tardivel, M., Sultan, A., Chauderlier, A., Caillierez, R., et al. (2014). A major role for Tau in neuronal DNA and RNA protection in vivo under physiological and hyperthermic conditions. Front. Cell Neurosci. 8:84. doi: 10.3389/fncel.2014.00084.
-
(2014)
Front. Cell Neurosci
, vol.8
, pp. 84
-
-
Violet, M.1
Delattre, L.2
Tardivel, M.3
Sultan, A.4
Chauderlier, A.5
Caillierez, R.6
-
129
-
-
0033638377
-
Distinct FTDP-17 missense mutations in tau produce tau aggregates and other pathological phenotypes in transfected CHO cells
-
Vogelsberg-Ragaglia, V., Bruce, J., Richter-Landsberg, C., Zhang, B., Hong, M., Trojanowski, J. Q., et al. (2000). Distinct FTDP-17 missense mutations in tau produce tau aggregates and other pathological phenotypes in transfected CHO cells. Mol. Biol. Cell 11, 4093-4104. doi: 10.1091/mbc.11.12.4093.
-
(2000)
Mol. Biol. Cell
, vol.11
, pp. 4093-4104
-
-
Vogelsberg-Ragaglia, V.1
Bruce, J.2
Richter-Landsberg, C.3
Zhang, B.4
Hong, M.5
Trojanowski, J.Q.6
-
130
-
-
0035930625
-
Mutations of tau protein in frontotemporal dementia promote aggregation of paired helical filaments by enhancing local beta-structure
-
von Bergen, M., Barghorn, S., Li, L., Marx, A., Biernat, J., Mandelkow, E. M., et al. (2001). Mutations of tau protein in frontotemporal dementia promote aggregation of paired helical filaments by enhancing local beta-structure. J. Biol. Chem. 276, 48165-48174.
-
(2001)
J. Biol. Chem
, vol.276
, pp. 48165-48174
-
-
von Bergen, M.1
Barghorn, S.2
Li, L.3
Marx, A.4
Biernat, J.5
Mandelkow, E.M.6
-
131
-
-
49749097123
-
Binding to the minor groove of the double-strand, tau protein prevents DNA from damage by peroxidation
-
Wei, Y., Qu, M. H., Wang, X. S., Chen, L., Wang, D. L., Liu, Y., et al. (2008). Binding to the minor groove of the double-strand, tau protein prevents DNA from damage by peroxidation. PLoS One 3:e2600. doi: 10.1371/journal.pone.0002600.
-
(2008)
PLoS One
, vol.3
-
-
Wei, Y.1
Qu, M.H.2
Wang, X.S.3
Chen, L.4
Wang, D.L.5
Liu, Y.6
-
132
-
-
0008538685
-
A protein factor essential for microtubule assembly
-
Weingarten, M. D., Lockwood, A. H., Hwo, S. Y., and Kirschner, M. W. (1975). A protein factor essential for microtubule assembly. Proc. Natl. Acad. Sci. U S A 72, 1858-1862. doi: 10.1073/pnas.72.5.1858.
-
(1975)
Proc. Natl. Acad. Sci. U S A
, vol.72
, pp. 1858-1862
-
-
Weingarten, M.D.1
Lockwood, A.H.2
Hwo, S.Y.3
Kirschner, M.W.4
-
133
-
-
0003986552
-
Isolation of a fragment of tau derived from the core of the paired helical filament of Alzheimer disease
-
Wischik, C. M., Novak, M., Thøgersen, H. C., Edwards, P. C., Runswick, M. J., Jakes, R., et al. (1988). Isolation of a fragment of tau derived from the core of the paired helical filament of Alzheimer disease. Proc. Natl. Acad. Sci. U S A 85, 4506-4510. doi: 10.1073/pnas.85.12.4506.
-
(1988)
Proc. Natl. Acad. Sci. U S A
, vol.85
, pp. 4506-4510
-
-
Wischik, C.M.1
Novak, M.2
Thøgersen, H.C.3
Edwards, P.C.4
Runswick, M.J.5
Jakes, R.6
-
134
-
-
0036488210
-
Functional effects of tau gene mutations deltaN296 and N296H
-
Yoshida, H., Crowther, R. A., and Goedert, M. (2002). Functional effects of tau gene mutations deltaN296 and N296H. J. Neurochem. 80, 548-551. doi: 10.1046/j.0022-3042.2001.00729.x.
-
(2002)
J. Neurochem
, vol.80
, pp. 548-551
-
-
Yoshida, H.1
Crowther, R.A.2
Goedert, M.3
-
135
-
-
84893955408
-
Tau proteins harboring neurodegeneration-linked mutations impair kinesin translocation in vitro
-
Yu, D., LaPointe, N. E., Guzman, E., Pessino, V., Wilson, L., Feinstein, S. C., et al. (2014). Tau proteins harboring neurodegeneration-linked mutations impair kinesin translocation in vitro. J. Alzheimers. Dis. 39, 301-314. doi: 10.3233/JAD-131274.
-
(2014)
J. Alzheimers. Dis
, vol.39
, pp. 301-314
-
-
Yu, D.1
LaPointe, N.E.2
Guzman, E.3
Pessino, V.4
Wilson, L.5
Feinstein, S.C.6
-
136
-
-
20944443640
-
A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease
-
Zarranz, J. J., Ferrer, I., Lezcano, E., Forcadas, M. I., Eizaguirre, B., Atarés, B., et al. (2005). A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease. Neurology 64, 1578-1585. doi: 10.1212/01.wnl.0000160116.65034.12.
-
(2005)
Neurology
, vol.64
, pp. 1578-1585
-
-
Zarranz, J.J.1
Ferrer, I.2
Lezcano, E.3
Forcadas, M.I.4
Eizaguirre, B.5
Atarés, B.6
-
137
-
-
84919466585
-
Lost after translation: missorting of Tau protein and consequences for Alzheimer disease
-
Zempel, H., and Mandelkow, E. (2014). Lost after translation: missorting of Tau protein and consequences for Alzheimer disease. Trends Neurosci. 37, 721-732. doi: 10.1016/j.tins.2014.08.004.
-
(2014)
Trends Neurosci
, vol.37
, pp. 721-732
-
-
Zempel, H.1
Mandelkow, E.2
|