-
1
-
-
0021256895
-
Alzheimer's disease: Initial report of the purification and characterization of a novel cerebrovascular amyloid protein
-
Glenner, G. G., and Wong, C. W. (1984) Alzheimer disease. Initial report of the purification and characterization of a novel cerebrovascular amyloid protein. Biochem. Biophys. Res. Commun. 120, 885-890 (Pubitemid 14104991)
-
(1984)
Biochemical and Biophysical Research Communications
, vol.120
, Issue.3
, pp. 885-890
-
-
Glenner, G.G.1
Wong, C.W.2
-
2
-
-
39349083915
-
Adapting proteostasis for disease intervention
-
DOI 10.1126/science.1141448
-
Balch, W. E., Morimoto, R. I., Dillin, A., and Kelly, J. W. (2008) Adapting proteostasis for disease intervention. Science 319, 916-919 (Pubitemid 351263754)
-
(2008)
Science
, vol.319
, Issue.5865
, pp. 916-919
-
-
Balch, W.E.1
Morimoto, R.I.2
Dillin, A.3
Kelly, J.W.4
-
3
-
-
0038701745
-
Regulation of aging and age-related disease by DAF-16 and heat-shock factor
-
DOI 10.1126/science.1083701
-
Hsu, A. L., Murphy, C. T., and Kenyon, C. (2003) Regulation of aging and age-related disease by DAF-16 and heat-shock factor. Science 300, 1142-1145 (Pubitemid 36583098)
-
(2003)
Science
, vol.300
, Issue.5622
, pp. 1142-1145
-
-
Hsu, A.-L.1
Murphy, C.T.2
Kenyon, C.3
-
4
-
-
0742323000
-
Regulation of Longevity in Caenorhabditis elegans by Heat Shock Factor and Molecular Chaperones
-
DOI 10.1091/mbc.E03-07-0532
-
Morley, J. F., and Morimoto, R. I. (2004) Regulation of longevity in Caenorhabditis elegans by heat shock factor and molecular chaperones. Mol. Biol. Cell 15, 657-664 (Pubitemid 38146482)
-
(2004)
Molecular Biology of the Cell
, vol.15
, Issue.2
, pp. 657-664
-
-
Morley, J.F.1
Morimoto, R.I.2
-
5
-
-
33748792821
-
Opposing activities protect against age-onset proteotoxicity
-
DOI 10.1126/science.1124646
-
Cohen, E., Bieschke, J., Perciavalle, R. M., Kelly, J. W., and Dillin, A. (2006) Opposing activities protect against age-onset proteotoxicity. Science 313, 1604-1610 (Pubitemid 44414028)
-
(2006)
Science
, vol.313
, Issue.5793
, pp. 1604-1610
-
-
Cohen, E.1
Bieschke, J.2
Perciavalle, R.M.3
Kelly, J.W.4
Dillin, A.5
-
6
-
-
79955433159
-
TDP-43 neurotoxicity and protein aggregation modulated by heat shock factor and insulin/ IGF-1 signaling
-
Zhang, T., Mullane, P. C., Periz, G., and Wang, J. (2011) TDP-43 neurotoxicity and protein aggregation modulated by heat shock factor and insulin/ IGF-1 signaling. Hum. Mol. Genet. 20, 1952-1965
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 1952-1965
-
-
Zhang, T.1
Mullane, P.C.2
Periz, G.3
Wang, J.4
-
7
-
-
0027401203
-
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
-
DOI 10.1038/362059a0
-
Rosen, D. R., Siddique, T., Patterson, D., Figlewicz, D. A., Sapp, P., Hentati, A., Donaldson, D., Goto, J., O'Regan, J. P., and Deng, H. X. (1993) Mutations in CuZn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362, 59-62 (Pubitemid 23087289)
-
(1993)
Nature
, vol.362
, Issue.6415
, pp. 59-62
-
-
Rosen, D.R.1
Siddique, T.2
Patterson, D.3
Figlewicz, D.A.4
Sapp, P.5
Hentati, A.6
Donaldson, D.7
Goto, J.8
O'Regan, J.P.9
Deng, H.-X.10
Rahmani, Z.11
Krizus, A.12
McKenna-Yasek, D.13
Cayabyab, A.14
Gaston, S.M.15
Berger, R.16
Tanzi, R.E.17
Halperin, J.J.18
Herzfeldt, B.19
-
8
-
-
0034785509
-
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
-
DOI 10.1038/ng1001-160
-
Yang, Y., Hentati, A., Deng, H. X., Dabbagh, O., Sasaki, T., Hirano, M., Hung, W. Y., Ouahchi, K., Yan, J., Azim, A. C., Cole, N., Gascon, G., Yagmour, A., Ben-Hamida, M., Pericak-Vance, M., Hentati, F., and Siddique, T. (2001) The gene encoding alsin, a protein with three guaninenucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat. Genet. 29, 160-165 (Pubitemid 32952652)
-
(2001)
Nature Genetics
, vol.29
, Issue.2
, pp. 160-165
-
-
Yang, Y.1
Hentati, A.2
Deng, H.-X.3
Dabbagh, O.4
Sasaki, T.5
Hirano, M.6
Hung, W.-Y.7
Ouahchi, K.8
Yan, J.9
Azim, A.C.10
Cole, N.11
Gascon, G.12
Yagmour, A.13
Ben-Hamida, M.14
Pericak-Vance, M.15
Hentati, F.16
Siddique, T.17
-
9
-
-
0034785483
-
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
-
DOI 10.1038/ng1001-166
-
Hadano, S., Hand, C. K., Osuga, H., Yanagisawa, Y., Otomo, A., Devon, R. S., Miyamoto, N., Showguchi-Miyata, J., Okada, Y., Singaraja, R., Figlewicz, D. A., Kwiatkowski, T., Hosler, B. A., Sagie, T., Skaug, J., Nasir, J., Brown, R. H., Jr., Scherer, S. W., Rouleau, G. A., Hayden, M. R., and Ikeda, J. E. (2001) A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat. Genet. 29, 166-173 (Pubitemid 32952653)
-
(2001)
Nature Genetics
, vol.29
, Issue.2
, pp. 166-173
-
-
Hadano, S.1
Hand, C.K.2
Osuga, H.3
Yanagisawa, Y.4
Otomo, A.5
Devon, R.S.6
Miyamoto, N.7
Showguchi-Miyata, J.8
Okada, Y.9
Singaraja, R.10
Figlewicz, D.A.11
Kwiatkowski, T.12
Hosler, B.A.13
Sagie, T.14
Skaug, J.15
Nasir, J.16
Brown, R.H.17
Scherer, S.W.18
Rouleau, G.A.19
Hayden, M.R.20
Ikeda, J.-E.21
more..
-
10
-
-
0037382240
-
Mutant dynactin in motor neuron disease
-
DOI 10.1038/ng1123
-
Puls, I., Jonnakuty, C., LaMonte, B. H., Holzbaur, E. L., Tokito, M., Mann, E., Floeter, M. K., Bidus, K., Drayna, D., Oh, S. J., Brown, R. H., Jr., Ludlow, C. L., and Fischbeck, K. H. (2003) Mutant dynactin in motor neuron disease. Nat. Genet. 33, 455-456 (Pubitemid 36390002)
-
(2003)
Nature Genetics
, vol.33
, Issue.4
, pp. 455-456
-
-
Puls, I.1
Jonnakuty, C.2
LaMonte, B.H.3
Holzbaur, E.L.F.4
Tokito, M.5
Mann, E.6
Floeter, M.K.7
Bidus, K.8
Drayna, D.9
Oh, S.J.10
Brown Jr., R.H.11
Ludlow, C.L.12
Fischbeck, K.H.13
-
11
-
-
2442658908
-
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
-
DOI 10.1086/421054
-
Chen, Y. Z., Bennett, C. L., Huynh, H. M., Blair, I. P., Puls, I., Irobi, J., Dierick, I., Abel, A., Kennerson, M. L., Rabin, B. A., Nicholson, G. A., Auer-Grumbach, M., Wagner, K., De Jonghe, P., Griffin, J. W., Fischbeck, K. H., Timmerman, V., Cornblath, D. R., and Chance, P. F. (2004) DNA/ RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am. J. Hum. Genet. 74, 1128-1135 (Pubitemid 38669312)
-
(2004)
American Journal of Human Genetics
, vol.74
, Issue.6
, pp. 1128-1135
-
-
Chen, Y.-Z.1
Bennett, C.L.2
Huynh, H.M.3
Blair, I.P.4
Puls, I.5
Irobi, J.6
Dierick, I.7
Abel, A.8
Kennerson, M.L.9
Rabin, B.A.10
Nicholson, G.A.11
Auer-Grumbach, M.12
Wagner, K.13
De Jonghe, P.14
Griffin, J.W.15
Fischbeck, K.H.16
Timmerman, V.17
Cornblath, D.R.18
Chance, P.F.19
-
12
-
-
6344257200
-
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
-
DOI 10.1086/425287
-
Nishimura, A. L., Mitne-Neto, M., Silva, H. C., Richieri-Costa, A., Middleton, S., Cascio, D., Kok, F., Oliveira, J. R., Gillingwater, T., Webb, J., Skehel, P., and Zatz, M. (2004) A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am. J. Hum. Genet. 75, 822-831 (Pubitemid 39390489)
-
(2004)
American Journal of Human Genetics
, vol.75
, Issue.5
, pp. 822-831
-
-
Nishimura, A.L.1
Mitne-Neto, M.2
Silva, H.C.A.3
Richieri-Costa, A.4
Middleton, S.5
Cascio, D.6
Kok, F.7
Oliveira, J.R.M.8
Gillingwater, T.9
Webb, J.10
Skehel, P.11
Zatz, M.12
-
13
-
-
33749632259
-
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
DOI 10.1126/science.1134108
-
Neumann, M., Sampathu, D. M., Kwong, L. K., Truax, A. C., Micsenyi, M. C., Chou, T. T., Bruce, J., Schuck, T., Grossman, M., Clark, C. M., McCluskey, L. F., Miller, B. L., Masliah, E., Mackenzie, I. R., Feldman, H., Feiden, W., Kretzschmar, H. A., Trojanowski, J. Q., and Lee, V. M. (2006) Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314, 130-133 (Pubitemid 44547757)
-
(2006)
Science
, vol.314
, Issue.5796
, pp. 130-133
-
-
Neumann, M.1
Sampathu, D.M.2
Kwong, L.K.3
Truax, A.C.4
Micsenyi, M.C.5
Chou, T.T.6
Bruce, J.7
Schuck, T.8
Grossman, M.9
Clark, C.M.10
McCluskey, L.F.11
Miller, B.L.12
Masliah, E.13
Mackenzie, I.R.14
Feldman, H.15
Feiden, W.16
Kretzschmar, H.A.17
Trojanowski, J.Q.18
Lee, V.M.-Y.19
-
14
-
-
41149180753
-
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
-
DOI 10.1126/science.1154584
-
Sreedharan, J., Blair, I. P., Tripathi, V. B., Hu, X., Vance, C., Rogelj, B., Ackerley, S., Durnall, J. C., Williams, K. L., Buratti, E., Baralle, F., de Belleroche, J., Mitchell, J. D., Leigh, P. N., Al-Chalabi, A., Miller, C. C., Nich-olson, G., and Shaw, C. E. (2008) TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319, 1668-1672 (Pubitemid 351432505)
-
(2008)
Science
, vol.319
, Issue.5870
, pp. 1668-1672
-
-
Sreedharan, J.1
Blair, I.P.2
Tripathi, V.B.3
Hu, X.4
Vance, C.5
Rogelj, B.6
Ackerley, S.7
Durnall, J.C.8
Williams, K.L.9
Buratti, E.10
Baralle, F.11
De Belleroche, J.12
Mitchell, J.D.13
Leigh, P.N.14
Al-Chalabi, A.15
Miller, C.C.16
Nicholson, G.17
Shaw, C.E.18
-
15
-
-
61349156118
-
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
-
Kwiatkowski, T. J., Jr., Bosco, D. A., Leclerc, A. L., Tamrazian, E., Vanderburg, C. R., Russ, C., Davis, A., Gilchrist, J., Kasarskis, E. J., Munsat, T., Valdmanis, P., Rouleau, G. A., Hosler, B. A., Cortelli, P., de Jong, P. J., Yoshinaga, Y., Haines, J. L., Pericak-Vance, M. A., Yan, J., Ticozzi, N., Siddique, T., McKenna-Yasek, D., Sapp, P. C., Horvitz, H. R., Landers, J. E., and Brown, R. H., Jr. (2009) Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323, 1205-1208
-
(2009)
Science
, vol.323
, pp. 1205-1208
-
-
Kwiatkowski Jr., T.J.1
Bosco, D.A.2
Leclerc, A.L.3
Tamrazian, E.4
Vanderburg, C.R.5
Russ, C.6
Davis, A.7
Gilchrist, J.8
Kasarskis, E.J.9
Munsat, T.10
Valdmanis, P.11
Rouleau, G.A.12
Hosler, B.A.13
Cortelli, P.14
De Jong, P.J.15
Yoshinaga, Y.16
Haines, J.L.17
Pericak-Vance, M.A.18
Yan, J.19
Ticozzi, N.20
Siddique, T.21
McKenna-Yasek, D.22
Sapp, P.C.23
Horvitz, H.R.24
Landers, J.E.25
Brown Jr., R.H.26
more..
-
16
-
-
61349162349
-
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
-
Vance, C., Rogelj, B., Hortobágyi, T., De Vos, K. J., Nishimura, A. L., Sreedharan, J., Hu, X., Smith, B., Ruddy, D., Wright, P., Ganesalingam, J., Williams, K. L., Tripathi, V., Al-Saraj, S., Al-Chalabi, A., Leigh, P. N., Blair, I. P., Nicholson, G., de Belleroche, J., Gallo, J. M., Miller, C. C., and Shaw, C. E. (2009) Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323, 1208-1211
-
(2009)
Science
, vol.323
, pp. 1208-1211
-
-
Vance, C.1
Rogelj, B.2
Hortobágyi, T.3
De Vos, K.J.4
Nishimura, A.L.5
Sreedharan, J.6
Hu, X.7
Smith, B.8
Ruddy, D.9
Wright, P.10
Ganesalingam, J.11
Williams, K.L.12
Tripathi, V.13
Al-Saraj, S.14
Al-Chalabi, A.15
Leigh, P.N.16
Blair, I.P.17
Nicholson, G.18
De Belleroche, J.19
Gallo, J.M.20
Miller, C.C.21
Shaw, C.E.22
more..
-
17
-
-
77952419246
-
Mutations of optineurin in amyotrophic lateral sclerosis
-
Maruyama, H., Morino, H., Ito, H., Izumi, Y., Kato, H., Watanabe, Y., Kinoshita, Y., Kamada, M., Nodera, H., Suzuki, H., Komure, O., Matsuura, S., Kobatake, K., Morimoto, N., Abe, K., Suzuki, N., Aoki, M., Kawata, A., Hirai, T., Kato, T., Ogasawara, K., Hirano, A., Takumi, T., Kusaka, H., Hagiwara, K., Kaji, R., and Kawakami, H. (2010) Mutations of optineurin in amyotrophic lateral sclerosis. Nature 465, 223-226
-
(2010)
Nature
, vol.465
, pp. 223-226
-
-
Maruyama, H.1
Morino, H.2
Ito, H.3
Izumi, Y.4
Kato, H.5
Watanabe, Y.6
Kinoshita, Y.7
Kamada, M.8
Nodera, H.9
Suzuki, H.10
Komure, O.11
Matsuura, S.12
Kobatake, K.13
Morimoto, N.14
Abe, K.15
Suzuki, N.16
Aoki, M.17
Kawata, A.18
Hirai, T.19
Kato, T.20
Ogasawara, K.21
Hirano, A.22
Takumi, T.23
Kusaka, H.24
Hagiwara, K.25
Kaji, R.26
Kawakami, H.27
more..
-
18
-
-
78649941297
-
Exome sequencing reveals VCP mutations as a cause of familial ALS
-
ITALSGEN Consortium
-
Johnson, J. O., Mandrioli, J., Benatar, M., Abramzon, Y., Van Deerlin, V. M., Trojanowski, J. Q., Gibbs, J. R., Brunetti, M., Gronka, S., Wuu, J., Ding, J., McCluskey, L., Martinez-Lage, M., Falcone, D., Hernandez, D. G., Arepalli, S., Chong, S., Schymick, J. C., Rothstein, J., Landi, F., Wang, Y. D., Calvo, A., Mora, G., Sabatelli, M., Monsurrò, M. R., Battistini, S., Salvi, F., Spataro, R., Sola, P., Borghero, G., ITALSGEN Consortium, Galassi, G., Scholz, S. W., Taylor, J. P., Restagno, G., Chiò, A., and Traynor, B. J. (2010) Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 68, 857-864
-
(2010)
Neuron
, vol.68
, pp. 857-864
-
-
Johnson, J.O.1
Mandrioli, J.2
Benatar, M.3
Abramzon, Y.4
Van Deerlin, V.M.5
Trojanowski, J.Q.6
Gibbs, J.R.7
Brunetti, M.8
Gronka, S.9
Wuu, J.10
Ding, J.11
McCluskey, L.12
Martinez-Lage, M.13
Falcone, D.14
Hernandez, D.G.15
Arepalli, S.16
Chong, S.17
Schymick, J.C.18
Rothstein, J.19
Landi, F.20
Wang, Y.D.21
Calvo, A.22
Mora, G.23
Sabatelli, M.24
Monsurrò, M.R.25
Battistini, S.26
Salvi, F.27
Spataro, R.28
Sola, P.29
Borghero, G.30
Galassi, G.31
Scholz, S.W.32
Taylor, J.P.33
Restagno, G.34
Chiò, A.35
Traynor, B.J.36
more..
-
19
-
-
80052580969
-
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
-
Deng, H. X., Chen, W., Hong, S. T., Boycott, K. M., Gorrie, G. H., Siddique, N., Yang, Y., Fecto, F., Shi, Y., Zhai, H., Jiang, H., Hirano, M., Rampersaud, E., Jansen, G. H., Donkervoort, S., Bigio, E. H., Brooks, B. R., Ajroud, K., Sufit, R. L., Haines, J. L., Mugnaini, E., Pericak-Vance, M. A., and Siddique, T. (2011) Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 477, 211-215
-
(2011)
Nature
, vol.477
, pp. 211-215
-
-
Deng, H.X.1
Chen, W.2
Hong, S.T.3
Boycott, K.M.4
Gorrie, G.H.5
Siddique, N.6
Yang, Y.7
Fecto, F.8
Shi, Y.9
Zhai, H.10
Jiang, H.11
Hirano, M.12
Rampersaud, E.13
Jansen, G.H.14
Donkervoort, S.15
Bigio, E.H.16
Brooks, B.R.17
Ajroud, K.18
Sufit, R.L.19
Haines, J.L.20
Mugnaini, E.21
Pericak-Vance, M.A.22
Siddique, T.23
more..
-
20
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., Nicholson, A. M., Finch, N. A., Flynn, H., Adamson, J., Kouri, N., Wojtas, A., Sengdy, P., Hsiung, G. Y., Karydas, A., Seeley, W. W., Josephs, K. A., Coppola, G., Geschwind, D. H., Wszolek, Z. K., Feldman, H., Knopman, D. S., Petersen, R. C., Miller, B. L., Dickson, D. W., Boylan, K. B., Graff-Radford, N. R., and Rademakers, R. (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72, 245-256
-
(2011)
Neuron
, vol.72
, pp. 245-256
-
-
DeJesus-Hernandez, M.1
Mackenzie, I.R.2
Boeve, B.F.3
Boxer, A.L.4
Baker, M.5
Rutherford, N.J.6
Nicholson, A.M.7
Finch, N.A.8
Flynn, H.9
Adamson, J.10
Kouri, N.11
Wojtas, A.12
Sengdy, P.13
Hsiung, G.Y.14
Karydas, A.15
Seeley, W.W.16
Josephs, K.A.17
Coppola, G.18
Geschwind, D.H.19
Wszolek, Z.K.20
Feldman, H.21
Knopman, D.S.22
Petersen, R.C.23
Miller, B.L.24
Dickson, D.W.25
Boylan, K.B.26
Graff-Radford, N.R.27
Rademakers, R.28
more..
-
21
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., Kalimo, H., Paetau, A., Abramzon, Y., Remes, A. M., Kaganovich, A., Scholz, S. W., Duckworth, J., Ding, J., Harmer, D. W., Hernandez, D. G., Johnson, J. O., Mok, K., Ryten, M., Trabzuni, D., Guerreiro, R. J., Orrell, R. W., Neal, J., Murray, A., Pearson, J., Jansen, I. E., Sondervan, D., Seelaar, H., Blake, D., Young, K., Halliwell, N., Callister, J. B., Toulson, G., Richardson, A., Gerhard, A., Snowden, J., Mann, D., Neary, D., Nalls, M. A., Peuralinna, T., Jansson, L., Isoviita, V. M., Kaivorinne, A. L., Hölttä-Vuori, M., Ikonen, E., Sulkava, R., Benatar, M., Wuu, J., Chiò, A., Restagno, G., Borghero, G., Sabatelli, M., Heckerman, D., Rogaeva, E., Zinman, L., Rothstein, J. D., Sendtner, M., Drepper, C., Eichler, E. E., Alkan, C., Abdullaev, Z., Pack, S. D., Dutra, A., Pak, E., Hardy, J., Singleton, A., Williams, N. M., Heutink, P., Pickering-Brown, S., Morris, H. R., Tienari, P. J., Traynor, B. J., et al. (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72, 257-268
-
(2011)
Neuron
, vol.72
, pp. 257-268
-
-
Renton, A.E.1
Majounie, E.2
Waite, A.3
Simón-Sánchez, J.4
Rollinson, S.5
Gibbs, J.R.6
Schymick, J.C.7
Laaksovirta, H.8
Van Swieten, J.C.9
Myllykangas, L.10
Kalimo, H.11
Paetau, A.12
Abramzon, Y.13
Remes, A.M.14
Kaganovich, A.15
Scholz, S.W.16
Duckworth, J.17
Ding, J.18
Harmer, D.W.19
Hernandez, D.G.20
Johnson, J.O.21
Mok, K.22
Ryten, M.23
Trabzuni, D.24
Guerreiro, R.J.25
Orrell, R.W.26
Neal, J.27
Murray, A.28
Pearson, J.29
Jansen, I.E.30
Sondervan, D.31
Seelaar, H.32
Blake, D.33
Young, K.34
Halliwell, N.35
Callister, J.B.36
Toulson, G.37
Richardson, A.38
Gerhard, A.39
Snowden, J.40
Mann, D.41
Neary, D.42
Nalls, M.A.43
Peuralinna, T.44
Jansson, L.45
Isoviita, V.M.46
Kaivorinne, A.L.47
Hölttä-Vuori, M.48
Ikonen, E.49
Sulkava, R.50
Benatar, M.51
Wuu, J.52
Chiò, A.53
Restagno, G.54
Borghero, G.55
Sabatelli, M.56
Heckerman, D.57
Rogaeva, E.58
Zinman, L.59
Rothstein, J.D.60
Sendtner, M.61
Drepper, C.62
Eichler, E.E.63
Alkan, C.64
Abdullaev, Z.65
Pack, S.D.66
Dutra, A.67
Pak, E.68
Hardy, J.69
Singleton, A.70
Williams, N.M.71
Heutink, P.72
Pickering-Brown, S.73
Morris, H.R.74
Tienari, P.J.75
Traynor, B.J.76
more..
-
22
-
-
77953890823
-
TDP-43 and FUS/TLS. Emerging roles in RNA processing and neurodegeneration
-
Lagier-Tourenne, C., Polymenidou, M., and Cleveland, D. W. (2010) TDP-43 and FUS/TLS. Emerging roles in RNA processing and neurodegeneration. Hum. Mol. Genet. 19, R46-64
-
(2010)
Hum. Mol. Genet.
, vol.19
-
-
Lagier-Tourenne, C.1
Polymenidou, M.2
Cleveland, D.W.3
-
23
-
-
77950867149
-
TAR DNAbinding protein 43 in neurodegenerative disease
-
Chen-Plotkin, A. S., Lee, V. M., and Trojanowski, J. Q. (2010) TAR DNAbinding protein 43 in neurodegenerative disease. Nat. Rev. Neurol. 6, 211-220
-
(2010)
Nat. Rev. Neurol.
, vol.6
, pp. 211-220
-
-
Chen-Plotkin, A.S.1
Lee, V.M.2
Trojanowski, J.Q.3
-
24
-
-
0036199623
-
High molecular weight complexes of mutant superoxide dismutase 1: Age-dependent and tissue-specific accumulation
-
DOI 10.1006/nbdi.2001.0471
-
Wang, J., Xu, G., and Borchelt, D. R. (2002) High molecular weight complexes of mutant superoxide dismutase 1. Age-dependent and tissue-specific accumulation. Neurobiol. Dis. 9, 139-148 (Pubitemid 34261210)
-
(2002)
Neurobiology of Disease
, vol.9
, Issue.2
, pp. 139-148
-
-
Wang, J.1
Xu, G.2
Borchelt, D.R.3
-
25
-
-
77958519939
-
Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS
-
Bosco, D. A., Morfini, G., Karabacak, N. M., Song, Y., Gros-Louis, F., Pasinelli, P., Goolsby, H., Fontaine, B. A., Lemay, N., McKenna-Yasek, D., Frosch, M. P., Agar, J. N., Julien, J. P., Brady, S. T., and Brown, R. H., Jr. (2010) Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS. Nat. Neurosci. 13, 1396-1403
-
(2010)
Nat. Neurosci.
, vol.13
, pp. 1396-1403
-
-
Bosco, D.A.1
Morfini, G.2
Karabacak, N.M.3
Song, Y.4
Gros-Louis, F.5
Pasinelli, P.6
Goolsby, H.7
Fontaine, B.A.8
Lemay, N.9
McKenna-Yasek, D.10
Frosch, M.P.11
Agar, J.N.12
Julien, J.P.13
Brady, S.T.14
Brown Jr., R.H.15
-
26
-
-
0027294031
-
Hn- RNP proteins and the biogenesis of mRNA
-
Dreyfuss, G., Matunis, M. J., Piñol-Roma, S., and Burd, C. G. (1993) hn- RNP proteins and the biogenesis of mRNA. Annu. Rev. Biochem. 62, 289-321
-
(1993)
Annu. Rev. Biochem.
, vol.62
, pp. 289-321
-
-
Dreyfuss, G.1
Matunis, M.J.2
Piñol-Roma, S.3
Burd, C.G.4
-
27
-
-
37549025044
-
A novel CpG-free vertebrate insulator silences the testis-specific SP-10 gene in somatic tissues. Role for TDP-43 in insulator function
-
Abhyankar, M. M., Urekar, C., and Reddi, P. P. (2007) A novel CpG-free vertebrate insulator silences the testis-specific SP-10 gene in somatic tissues. Role for TDP-43 in insulator function. J. Biol. Chem. 282, 36143-36154
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 36143-36154
-
-
Abhyankar, M.M.1
Urekar, C.2
Reddi, P.P.3
-
28
-
-
0029066110
-
Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs
-
Ou, S. H., Wu, F., Harrich, D., García-Martínez, L. F., and Gaynor, R. B. (1995) Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs. J. Virol. 69, 3584-3596
-
(1995)
J. Virol.
, vol.69
, pp. 3584-3596
-
-
Ou, S.H.1
Wu, F.2
Harrich, D.3
García-Martínez, L.F.4
Gaynor, R.B.5
-
29
-
-
57649174592
-
TDP-43 overexpression enhances exon 7 inclusion during the survival of motor neuron pre-mRNA splicing
-
Bose, J. K., Wang, I. F., Hung, L., Tarn, W. Y., and Shen, C. K. (2008) TDP-43 overexpression enhances exon 7 inclusion during the survival of motor neuron pre-mRNA splicing. J. Biol. Chem. 283, 28852-28859
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 28852-28859
-
-
Bose, J.K.1
Wang, I.F.2
Hung, L.3
Tarn, W.Y.4
Shen, C.K.5
-
30
-
-
27744554553
-
Depletion of TDP 43 overrides the need for exonic and intronic splicing enhancers in the human apoA-II gene
-
DOI 10.1093/nar/gki897
-
Mercado, P. A., Ayala, Y. M., Romano, M., Buratti, E., and Baralle, F. E. (2005) Depletion of TDP 43 overrides the need for exonic and intronic splicing enhancers in the human apoA-II gene. Nucleic Acids Res. 33, 6000-6010 (Pubitemid 41742619)
-
(2005)
Nucleic Acids Research
, vol.33
, Issue.18
, pp. 6000-6010
-
-
Mercado, P.A.1
Ayala, Y.M.2
Romano, M.3
Buratti, E.4
Baralle, F.E.5
-
31
-
-
79952268025
-
TDP-43 is directed to stress granules by sorbitol, a novel physiological osmotic and oxidative stressor
-
Dewey, C. M., Cenik, B., Sephton, C. F., Dries, D. R., Mayer, P., 3rd, Good, S. K., Johnson, B. A., Herz, J., and Yu, G. (2011) TDP-43 is directed to stress granules by sorbitol, a novel physiological osmotic and oxidative stressor. Mol. Cell. Biol. 31, 1098-1108
-
(2011)
Mol. Cell. Biol.
, vol.31
, pp. 1098-1108
-
-
Dewey, C.M.1
Cenik, B.2
Sephton, C.F.3
Dries, D.R.4
Mayer III, P.5
Good, S.K.6
Johnson, B.A.7
Herz, J.8
Yu, G.9
-
32
-
-
79952589652
-
TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1
-
McDonald, K. K., Aulas, A., Destroismaisons, L., Pickles, S., Beleac, E., Camu, W., Rouleau, G. A., and Vande Velde, C. (2011) TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1. Hum. Mol. Genet. 20, 1400-1410
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 1400-1410
-
-
McDonald, K.K.1
Aulas, A.2
Destroismaisons, L.3
Pickles, S.4
Beleac, E.5
Camu, W.6
Rouleau, G.A.7
Vande Velde, C.8
-
33
-
-
78149461229
-
Tar DNA binding protein-43 (TDP-43) associates with stress granules. Analysis of cultured cells and pathological brain tissue
-
Liu-Yesucevitz, L., Bilgutay, A., Zhang, Y. J., Vanderweyde, T., Vanderwyde, T., Citro, A., Mehta, T., Zaarur, N., McKee, A., Bowser, R., Sherman, M., Petrucelli, L., and Wolozin, B. (2010) Tar DNA binding protein-43 (TDP-43) associates with stress granules. Analysis of cultured cells and pathological brain tissue. PLoS One 5, e13250
-
(2010)
PLoS One
, vol.5
-
-
Liu-Yesucevitz, L.1
Bilgutay, A.2
Zhang, Y.J.3
Vanderweyde, T.4
Vanderwyde, T.5
Citro, A.6
Mehta, T.7
Zaarur, N.8
McKee, A.9
Bowser, R.10
Sherman, M.11
Petrucelli, L.12
Wolozin, B.13
-
34
-
-
34249751076
-
TDP43 is a human low molecular weight neurofilament (hNFL) mRNA-binding protein
-
DOI 10.1016/j.mcn.2007.03.007, PII S1044743107000784
-
Strong, M. J., Volkening, K., Hammond, R., Yang, W., Strong, W., Leystra- Lantz, C., and Shoesmith, C. (2007) TDP43 is a human low molecular weight neurofilament (hNFL) mRNA-binding protein. Mol. Cell. Neurosci. 35, 320-327 (Pubitemid 46843567)
-
(2007)
Molecular and Cellular Neuroscience
, vol.35
, Issue.2
, pp. 320-327
-
-
Strong, M.J.1
Volkening, K.2
Hammond, R.3
Yang, W.4
Strong, W.5
Leystra-Lantz, C.6
Shoesmith, C.7
-
35
-
-
75649135319
-
Knockdown of transactive response DNA-binding protein (TDP-43) down-regulates histone deacetylase 6
-
Fiesel, F. C., Voigt, A., Weber, S. S., Van den Haute, C., Waldenmaier, A., Görner, K., Walter, M., Anderson, M. L., Kern, J. V., Rasse, T. M., Schmidt, T., Springer, W., Kirchner, R., Bonin, M., Neumann, M., Baekelandt, V., Alunni-Fabbroni, M., Schulz, J. B., and Kahle, P. J. (2010) Knockdown of transactive response DNA-binding protein (TDP-43) down-regulates histone deacetylase 6. EMBO J. 29, 209-221
-
(2010)
EMBO J.
, vol.29
, pp. 209-221
-
-
Fiesel, F.C.1
Voigt, A.2
Weber, S.S.3
Van Den Haute, C.4
Waldenmaier, A.5
Görner, K.6
Walter, M.7
Anderson, M.L.8
Kern, J.V.9
Rasse, T.M.10
Schmidt, T.11
Springer, W.12
Kirchner, R.13
Bonin, M.14
Neumann, M.15
Baekelandt, V.16
Alunni-Fabbroni, M.17
Schulz, J.B.18
Kahle, P.J.19
-
36
-
-
84455169931
-
Regulation of autophagy by neuropathological protein TDP-43
-
Bose, J. K., Huang, C. C., and Shen, C. K. (2011) Regulation of autophagy by neuropathological protein TDP-43. J. Biol. Chem. 286, 44441-44448
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 44441-44448
-
-
Bose, J.K.1
Huang, C.C.2
Shen, C.K.3
-
37
-
-
79953185674
-
Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43
-
Polymenidou, M., Lagier-Tourenne, C., Hutt, K. R., Huelga, S. C., Moran, J., Liang, T. Y., Ling, S. C., Sun, E., Wancewicz, E., Mazur, C., Kordasiewicz, H., Sedaghat, Y., Donohue, J. P., Shiue, L., Bennett, C. F., Yeo, G. W., and Cleveland, D. W. (2011) Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43. Nat. Neurosci. 14, 459-468
-
(2011)
Nat. Neurosci.
, vol.14
, pp. 459-468
-
-
Polymenidou, M.1
Lagier-Tourenne, C.2
Hutt, K.R.3
Huelga, S.C.4
Moran, J.5
Liang, T.Y.6
Ling, S.C.7
Sun, E.8
Wancewicz, E.9
Mazur, C.10
Kordasiewicz, H.11
Sedaghat, Y.12
Donohue, J.P.13
Shiue, L.14
Bennett, C.F.15
Yeo, G.W.16
Cleveland, D.W.17
-
38
-
-
78751616191
-
TDP-43 regulates its mRNA levels through a negative feedback loop
-
Ayala, Y. M., De Conti, L., Avendaño-Vázquez, S. E., Dhir, A., Romano, M., D'Ambrogio, A., Tollervey, J., Ule, J., Baralle, M., Buratti, E., and Baralle, F. E. (2011) TDP-43 regulates its mRNA levels through a negative feedback loop. EMBO J. 30, 277-288
-
(2011)
EMBO J.
, vol.30
, pp. 277-288
-
-
Ayala, Y.M.1
De Conti, L.2
Avendaño-Vázquez, S.E.3
Dhir, A.4
Romano, M.5
D'Ambrogio, A.6
Tollervey, J.7
Ule, J.8
Baralle, M.9
Buratti, E.10
Baralle, F.E.11
-
39
-
-
79551523377
-
Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice
-
Igaz, L. M., Kwong, L. K., Lee, E. B., Chen-Plotkin, A., Swanson, E., Unger, T., Malunda, J., Xu, Y., Winton, M. J., Trojanowski, J. Q., and Lee, V. M. (2011) Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice. J. Clin. Invest. 121, 726-738
-
(2011)
J. Clin. Invest.
, vol.121
, pp. 726-738
-
-
Igaz, L.M.1
Kwong, L.K.2
Lee, E.B.3
Chen-Plotkin, A.4
Swanson, E.5
Unger, T.6
Malunda, J.7
Xu, Y.8
Winton, M.J.9
Trojanowski, J.Q.10
Lee, V.M.11
-
40
-
-
77957317483
-
The multiple roles of TDP-43 in pre-mRNA processing and gene expression regulation
-
Buratti, E., and Baralle, F. E. (2010) The multiple roles of TDP-43 in pre-mRNA processing and gene expression regulation. RNA Biol. 7, 420-429
-
(2010)
RNA Biol.
, vol.7
, pp. 420-429
-
-
Buratti, E.1
Baralle, F.E.2
-
41
-
-
44049097065
-
A yeast TDP-43 proteinopathy model: Exploring the molecular determinants of TDP-43 aggregation and cellular toxicity
-
DOI 10.1073/pnas.0802082105
-
Johnson, B. S., McCaffery, J. M., Lindquist, S., and Gitler, A. D. (2008) Ayeast TDP-43 proteinopathy model. Exploring the molecular determinants of TDP-43 aggregation and cellular toxicity. Proc. Natl. Acad. Sci. U.S.A. 105, 6439-6444 (Pubitemid 351758364)
-
(2008)
Proceedings of the National Academy of Sciences of the United States of America
, vol.105
, Issue.17
, pp. 6439-6444
-
-
Johnson, B.S.1
McCaffery, J.M.2
Lindquist, S.3
Gitler, A.D.4
-
42
-
-
73249152831
-
TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration
-
Wegorzewska, I., Bell, S., Cairns, N. J., Miller, T. M., and Baloh, R. H. (2009) TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration. Proc. Natl. Acad. Sci. U.S.A. 106, 18809-18814
-
(2009)
Proc. Natl. Acad. Sci. U.S.A.
, vol.106
, pp. 18809-18814
-
-
Wegorzewska, I.1
Bell, S.2
Cairns, N.J.3
Miller, T.M.4
Baloh, R.H.5
-
43
-
-
77950360176
-
Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo
-
Kabashi, E., Lin, L., Tradewell, M. L., Dion, P. A., Bercier, V., Bourgouin, P., Rochefort, D., Bel Hadj, S., Durham, H. D., Vande Velde, C., Rouleau, G. A., and Drapeau, P. (2010) Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo. Hum. Mol. Genet. 19, 671-683
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 671-683
-
-
Kabashi, E.1
Lin, L.2
Tradewell, M.L.3
Dion, P.A.4
Bercier, V.5
Bourgouin, P.6
Rochefort, D.7
Bel Hadj, S.8
Durham, H.D.9
Vande Velde, C.10
Rouleau, G.A.11
Drapeau, P.12
-
44
-
-
77649258646
-
A Drosophila model for TDP-43 proteinopathy
-
Li, Y., Ray, P., Rao, E. J., Shi, C., Guo, W., Chen, X., Woodruff, E. A., 3rd, Fushimi, K., and Wu, J. Y. (2010) A Drosophila model for TDP-43 proteinopathy. Proc. Natl. Acad. Sci. U.S.A. 107, 3169-3174
-
(2010)
Proc. Natl. Acad. Sci. U.S.A.
, vol.107
, pp. 3169-3174
-
-
Li, Y.1
Ray, P.2
Rao, E.J.3
Shi, C.4
Guo, W.5
Chen, X.6
Woodruff III, E.A.7
Fushimi, K.8
Wu, J.Y.9
-
45
-
-
77951236534
-
Ubiquilin modifies TDP-43 toxicity in a Drosophila model of amyotrophic lateral sclerosis (ALS)
-
Hanson, K. A., Kim, S. H., Wassarman, D. A., and Tibbetts, R. S. (2010) Ubiquilin modifies TDP-43 toxicity in a Drosophila model of amyotrophic lateral sclerosis (ALS). J. Biol. Chem. 285, 11068-11072
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 11068-11072
-
-
Hanson, K.A.1
Kim, S.H.2
Wassarman, D.A.3
Tibbetts, R.S.4
-
46
-
-
77954653461
-
Neurotoxic effects of TDP-43 overexpression in C. elegans
-
Ash, P. E., Zhang, Y. J., Roberts, C. M., Saldi, T., Hutter, H., Buratti, E., Petrucelli, L., and Link, C. D. (2010) Neurotoxic effects of TDP-43 overexpression in C. elegans. Hum. Mol. Genet. 19, 3206-3218
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 3206-3218
-
-
Ash, P.E.1
Zhang, Y.J.2
Roberts, C.M.3
Saldi, T.4
Hutter, H.5
Buratti, E.6
Petrucelli, L.7
Link, C.D.8
-
47
-
-
78649750391
-
Phosphorylation promotes neurotoxicity in a Caenorhabditis elegans model of TDP-43 proteinopathy
-
Liachko, N. F., Guthrie, C. R., and Kraemer, B. C. (2010) Phosphorylation promotes neurotoxicity in a Caenorhabditis elegans model of TDP-43 proteinopathy. J. Neurosci. 30, 16208-16219
-
(2010)
J. Neurosci.
, vol.30
, pp. 16208-16219
-
-
Liachko, N.F.1
Guthrie, C.R.2
Kraemer, B.C.3
-
48
-
-
77649269011
-
TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration
-
Wils, H., Kleinberger, G., Janssens, J., Pereson, S., Joris, G., Cuijt, I., Smits, V., Ceuterick-de Groote, C., Van Broeckhoven, C., and Kumar-Singh, S. (2010) TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration. Proc. Natl. Acad. Sci. U.S.A. 107, 3858-3863
-
(2010)
Proc. Natl. Acad. Sci. U.S.A.
, vol.107
, pp. 3858-3863
-
-
Wils, H.1
Kleinberger, G.2
Janssens, J.3
Pereson, S.4
Joris, G.5
Cuijt, I.6
Smits, V.7
Ceuterick-de Groote, C.8
Van Broeckhoven, C.9
Kumar-Singh, S.10
-
49
-
-
79251518539
-
Progressive motor weakness in transgenic mice expressing human TDP-43
-
Stallings, N. R., Puttaparthi, K., Luther, C. M., Burns, D. K., and Elliott, J. L. (2010) Progressive motor weakness in transgenic mice expressing human TDP-43. Neurobiol. Dis. 40, 404-414
-
(2010)
Neurobiol. Dis.
, vol.40
, pp. 404-414
-
-
Stallings, N.R.1
Puttaparthi, K.2
Luther, C.M.3
Burns, D.K.4
Elliott, J.L.5
-
50
-
-
77956199371
-
Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice
-
Xu, Y. F., Gendron, T. F., Zhang, Y. J., Lin, W. L., D'Alton, S., Sheng, H., Casey, M. C., Tong, J., Knight, J., Yu, X., Rademakers, R., Boylan, K., Hutton, M., McGowan, E., Dickson, D. W., Lewis, J., and Petrucelli, L. (2010) Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice. J. Neurosci. 30, 10851-10859
-
(2010)
J. Neurosci.
, vol.30
, pp. 10851-10859
-
-
Xu, Y.F.1
Gendron, T.F.2
Zhang, Y.J.3
Lin, W.L.4
D'Alton, S.5
Sheng, H.6
Casey, M.C.7
Tong, J.8
Knight, J.9
Yu, X.10
Rademakers, R.11
Boylan, K.12
Hutton, M.13
McGowan, E.14
Dickson, D.W.15
Lewis, J.16
Petrucelli, L.17
-
51
-
-
77958022745
-
Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice
-
Shan, X., Chiang, P. M., Price, D. L., and Wong, P. C. (2010) Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice. Proc. Natl. Acad. Sci. U.S.A. 107, 16325-16330
-
(2010)
Proc. Natl. Acad. Sci. U.S.A.
, vol.107
, pp. 16325-16330
-
-
Shan, X.1
Chiang, P.M.2
Price, D.L.3
Wong, P.C.4
-
52
-
-
80052936462
-
Pathological hallmarks of amyotrophic lateral sclerosis/ frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragments
-
Swarup, V., Phaneuf, D., Bareil, C., Robertson, J., Rouleau, G. A., Kriz, J., and Julien, J. P. (2011) Pathological hallmarks of amyotrophic lateral sclerosis/ frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragments. Brain 134, 2610-2626
-
(2011)
Brain
, vol.134
, pp. 2610-2626
-
-
Swarup, V.1
Phaneuf, D.2
Bareil, C.3
Robertson, J.4
Rouleau, G.A.5
Kriz, J.6
Julien, J.P.7
-
53
-
-
77950421249
-
Transgenic rat model of neurodegeneration caused by mutation in the TDP gene
-
Zhou, H., Huang, C., Chen, H., Wang, D., Landel, C. P., Xia, P. Y., Bowser, R., Liu, Y. J., and Xia, X. G. (2010) Transgenic rat model of neurodegeneration caused by mutation in the TDP gene. PLoS Genet. 6, e1000887
-
(2010)
PLoS Genet.
, vol.6
-
-
Zhou, H.1
Huang, C.2
Chen, H.3
Wang, D.4
Landel, C.P.5
Xia, P.Y.6
Bowser, R.7
Liu, Y.J.8
Xia, X.G.9
-
54
-
-
74749107048
-
TDP-43, a neuro-pathosignature factor, is essential for early mouse embryogenesis
-
Wu, L. S., Cheng, W. C., Hou, S. C., Yan, Y. T., Jiang, S. T., and Shen, C. K. (2010) TDP-43, a neuro-pathosignature factor, is essential for early mouse embryogenesis. Genesis 48, 56-62
-
(2010)
Genesis
, vol.48
, pp. 56-62
-
-
Wu, L.S.1
Cheng, W.C.2
Hou, S.C.3
Yan, Y.T.4
Jiang, S.T.5
Shen, C.K.6
-
55
-
-
77949878273
-
TDP-43 is a developmentally regulated protein essential for early embryonic development
-
Sephton, C. F., Good, S. K., Atkin, S., Dewey, C. M., Mayer, P., 3rd, Herz, J., and Yu, G. (2010) TDP-43 is a developmentally regulated protein essential for early embryonic development. J. Biol. Chem. 285, 6826-6834
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 6826-6834
-
-
Sephton, C.F.1
Good, S.K.2
Atkin, S.3
Dewey, C.M.4
Mayer III, P.5
Herz, J.6
Yu, G.7
-
56
-
-
77958012134
-
Deletion of TDP-43 down-regulates Tbc1d1, a gene linked to obesity, and alters body fat metabolism
-
Chiang, P. M., Ling, J., Jeong, Y. H., Price, D. L., Aja, S. M., and Wong, P. C. (2010) Deletion of TDP-43 down-regulates Tbc1d1, a gene linked to obesity, and alters body fat metabolism. Proc. Natl. Acad. Sci. U.S.A. 107, 16320-16324
-
(2010)
Proc. Natl. Acad. Sci. U.S.A.
, vol.107
, pp. 16320-16324
-
-
Chiang, P.M.1
Ling, J.2
Jeong, Y.H.3
Price, D.L.4
Aja, S.M.5
Wong, P.C.6
-
57
-
-
0242524455
-
Copper-binding-site-null SOD1 causes ALS in transgenic mice: Aggregates of non-native SOD1 delineate a common feature
-
DOI 10.1093/hmg/ddg312
-
Wang, J., Slunt, H., Gonzales, V., Fromholt, D., Coonfield, M., Copeland, N. G., Jenkins, N. A., and Borchelt, D. R. (2003) Copper-binding site-null SOD1 causes ALS in transgenic mice. Aggregates of non-native SOD1 delineate a common feature. Hum. Mol. Genet. 12, 2753-2764 (Pubitemid 37407112)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.21
, pp. 2753-2764
-
-
Wang, J.1
Slunt, H.2
Gonzales, V.3
Fromholt, D.4
Coonfield, M.5
Copeland, N.G.6
Jenkins, N.A.7
Borchelt, D.R.8
-
58
-
-
59249098430
-
An ALS-linked mutant SOD1 produces a locomotor defect associated with aggregation and synaptic dysfunction when expressed in neurons of Caenorhabditis elegans
-
Wang, J., Farr, G. W., Hall, D. H., Li, F., Furtak, K., Dreier, L., and Horwich, A. L. (2009) An ALS-linked mutant SOD1 produces a locomotor defect associated with aggregation and synaptic dysfunction when expressed in neurons of Caenorhabditis elegans. PLoS Genet. 5, e1000350
-
(2009)
PLoS Genet.
, vol.5
-
-
Wang, J.1
Farr, G.W.2
Hall, D.H.3
Li, F.4
Furtak, K.5
Dreier, L.6
Horwich, A.L.7
-
59
-
-
0025755922
-
Heat shock factor and the heat shock response
-
Sorger, P. K. (1991) Heat shock factor and the heat shock response. Cell 65, 363-366
-
(1991)
Cell
, vol.65
, pp. 363-366
-
-
Sorger, P.K.1
-
60
-
-
11244344049
-
The L-type cyclin CYL-1 and the heat-shock-factor HSF-1 are required for heat-shock-induced protein expression in Caenorhabditis elegans
-
DOI 10.1534/genetics.104.028423
-
Hajdu-Cronin, Y. M., Chen, W. J., and Sternberg, P. W. (2004) The L-type cyclin CYL-1 and the heat-shock factor HSF-1 are required for heatshock- induced protein expression in Caenorhabditis elegans. Genetics 168, 1937-1949 (Pubitemid 40066334)
-
(2004)
Genetics
, vol.168
, Issue.4
, pp. 1937-1949
-
-
Hajdu-Cronin, Y.M.1
Chen, W.J.2
Sternberg, P.W.3
-
61
-
-
33644850056
-
Progressive disruption of cellular protein folding in models of polyglutamine diseases
-
DOI 10.1126/science.1124514
-
Gidalevitz, T., Ben-Zvi, A., Ho, K. H., Brignull, H. R., and Morimoto, R. I. (2006) Progressive disruption of cellular protein folding in models of polyglutamine diseases. Science 311, 1471-1474 (Pubitemid 43376703)
-
(2006)
Science
, vol.311
, Issue.5766
, pp. 1471-1474
-
-
Gidalevitz, T.1
Ben-Zvi, A.2
Ho, K.H.3
Brignull, H.R.4
Morimoto, R.I.5
-
62
-
-
0034069495
-
Gene ontology: Tool for the unification of biology
-
DOI 10.1038/75556
-
Ashburner, M., Ball, C. A., Blake, J. A., Botstein, D., Butler, H., Cherry, J. M., Davis, A. P., Dolinski, K., Dwight, S. S., Eppig, J. T., Harris, M. A., Hill, D. P., Issel-Tarver, L., Kasarskis, A., Lewis, S., Matese, J. C., Richardson, J. E., Ringwald, M., Rubin, G. M., and Sherlock, G. (2000) Gene ontology: tool for the unification of biology. The Gene Ontology Consortium. Nat. Genet. 25, 25-29 (Pubitemid 30257031)
-
(2000)
Nature Genetics
, vol.25
, Issue.1
, pp. 25-29
-
-
Ashburner, M.1
Ball, C.A.2
Blake, J.A.3
Botstein, D.4
Butler, H.5
Cherry, J.M.6
Davis, A.P.7
Dolinski, K.8
Dwight, S.S.9
Eppig, J.T.10
Harris, M.A.11
Hill, D.P.12
Issel-Tarver, L.13
Kasarskis, A.14
Lewis, S.15
Matese, J.C.16
Richardson, J.E.17
Ringwald, M.18
Rubin, G.M.19
Sherlock, G.20
more..
-
63
-
-
0242266620
-
Dicer is essential for mouse development
-
DOI 10.1038/ng1253
-
Bernstein, E., Kim, S. Y., Carmell, M. A., Murchison, E. P., Alcorn, H., Li, M. Z., Mills, A. A., Elledge, S. J., Anderson, K. V., and Hannon, G. J. (2003) Dicer is essential for mouse development. Nat. Genet. 35, 215-217 (Pubitemid 37363172)
-
(2003)
Nature Genetics
, vol.35
, Issue.3
, pp. 215-217
-
-
Bernstein, E.1
Kim, S.Y.2
Carmell, M.A.3
Murchison, E.P.4
Alcorn, H.5
Li, M.Z.6
Mills, A.A.7
Elledge, S.J.8
Anderson, K.V.9
Hannon, G.J.10
-
64
-
-
0035929322
-
A role for the RNase III enzyme DCR-1 in RNA interference and germ line development in Caenorhabditis elegans
-
DOI 10.1126/science.1062039
-
Knight, S. W., and Bass, B. L. (2001) A role for the RNase III enzyme DCR-1 in RNA interference and germ line development in Caenorhabditis elegans. Science 293, 2269-2271 (Pubitemid 32900239)
-
(2001)
Science
, vol.293
, Issue.5538
, pp. 2269-2271
-
-
Knight, S.W.1
Bass, B.L.2
-
65
-
-
77953194507
-
TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97
-
Ritson, G. P., Custer, S. K., Freibaum, B. D., Guinto, J. B., Geffel, D., Moore, J., Tang, W., Winton, M. J., Neumann, M., Trojanowski, J. Q., Lee, V. M., Forman, M. S., and Taylor, J. P. (2010) TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97. J. Neurosci. 30, 7729-7739
-
(2010)
J. Neurosci.
, vol.30
, pp. 7729-7739
-
-
Ritson, G.P.1
Custer, S.K.2
Freibaum, B.D.3
Guinto, J.B.4
Geffel, D.5
Moore, J.6
Tang, W.7
Winton, M.J.8
Neumann, M.9
Trojanowski, J.Q.10
Lee, V.M.11
Forman, M.S.12
Taylor, J.P.13
-
66
-
-
67749133873
-
TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity
-
Johnson, B. S., Snead, D., Lee, J. J., McCaffery, J. M., Shorter, J., and Gitler, A. D. (2009) TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity. J. Biol. Chem. 284, 20329-20339
-
(2009)
J. Biol. Chem.
, vol.284
, pp. 20329-20339
-
-
Johnson, B.S.1
Snead, D.2
Lee, J.J.3
McCaffery, J.M.4
Shorter, J.5
Gitler, A.D.6
-
67
-
-
79960040173
-
An ALS-associated mutation affecting TDP-43 enhances protein aggregation, fibril formation and neurotoxicity
-
Guo, W., Chen, Y., Zhou, X., Kar, A., Ray, P., Chen, X., Rao, E. J., Yang, M., Ye, H., Zhu, L., Liu, J., Xu, M., Yang, Y., Wang, C., Zhang, D., Bigio, E. H., Mesulam, M., Shen, Y., Xu, Q., Fushimi, K., and Wu, J. Y. (2011) An ALS-associated mutation affecting TDP-43 enhances protein aggregation, fibril formation and neurotoxicity. Nat. Struct. Mol. Biol. 18, 822-830
-
(2011)
Nat. Struct. Mol. Biol.
, vol.18
, pp. 822-830
-
-
Guo, W.1
Chen, Y.2
Zhou, X.3
Kar, A.4
Ray, P.5
Chen, X.6
Rao, E.J.7
Yang, M.8
Ye, H.9
Zhu, L.10
Liu, J.11
Xu, M.12
Yang, Y.13
Wang, C.14
Zhang, D.15
Bigio, E.H.16
Mesulam, M.17
Shen, Y.18
Xu, Q.19
Fushimi, K.20
Wu, J.Y.21
more..
-
68
-
-
79251556902
-
DAF-16/Forkhead box O transcription factor. Many paths to a single Fork(head) in the road
-
Yen, K., Narasimhan, S. D., and Tissenbaum, H. A. (2011) DAF-16/Forkhead box O transcription factor. Many paths to a single Fork(head) in the road. Antioxid. Redox. Signal. 14, 623-634
-
(2011)
Antioxid. Redox. Signal.
, vol.14
, pp. 623-634
-
-
Yen, K.1
Narasimhan, S.D.2
Tissenbaum, H.A.3
|