-
1
-
-
9144252520
-
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population
-
Jacquemont, S., Hagerman, R.J., Leehey, M.A., Hall, D.A., Levine, R.A., Brunberg, J.A., Zhang, L., Jardini, T., Gane, L.W., Harris, S.W. et al. (2004) Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA, 291, 460-469.
-
(2004)
JAMA
, vol.291
, pp. 460-469
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.A.3
Hall, D.A.4
Levine, R.A.5
Brunberg, J.A.6
Zhang, L.7
Jardini, T.8
Gane, L.W.9
Harris, S.W.10
-
2
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman, R.J., Leehey, M., Heinrichs, W., Tassone, F., Wilson, R., Hills, J., Grigsby, J., Gage, B. and Hagerman, P.J. (2001) Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology, 57, 127-130.
-
(2001)
Neurology
, vol.57
, pp. 127-130
-
-
Hagerman, R.J.1
Leehey, M.2
Heinrichs, W.3
Tassone, F.4
Wilson, R.5
Hills, J.6
Grigsby, J.7
Gage, B.8
Hagerman, P.J.9
-
3
-
-
0025833298
-
Absence of expression of the FMR-1 gene in fragile X syndrome
-
Pieretti, M., Zhang, F.P., Fu, Y.H., Warren, S.T., Oostra, B.A., Caskey, C.T. and Nelson, D.L. (1991) Absence of expression of the FMR-1 gene in fragile X syndrome. Cell, 66, 817-822.
-
(1991)
Cell
, vol.66
, pp. 817-822
-
-
Pieretti, M.1
Zhang, F.P.2
Fu, Y.H.3
Warren, S.T.4
Oostra, B.A.5
Caskey, C.T.6
Nelson, D.L.7
-
4
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
-
Verkerk, A.J., Pieretti, M., Sutcliffe, J.S., Fu, Y.H., Kuhl, D.P., Pizzuti, A., Reiner, O., Richards, S., Victoria, M.F., Zhang, F.P. et al. (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell, 65, 905-914.
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.1
Pieretti, M.2
Sutcliffe, J.S.3
Fu, Y.H.4
Kuhl, D.P.5
Pizzuti, A.6
Reiner, O.7
Richards, S.8
Victoria, M.F.9
Zhang, F.P.10
-
5
-
-
0033940157
-
Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome
-
Tassone, F., Hagerman, R.J., Taylor, A.K., Gane, L.W., Godfrey, T.E. and Hagerman, P.J. (2000) Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am. J. Hum. Genet., 66, 6-15.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 6-15
-
-
Tassone, F.1
Hagerman, R.J.2
Taylor, A.K.3
Gane, L.W.4
Godfrey, T.E.5
Hagerman, P.J.6
-
6
-
-
0035394437
-
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
-
Kenneson, A., Zhang, F., Hagedorn, C.H. and Warren, S.T. (2001) Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum. Mol. Genet., 10, 1449-1454.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1449-1454
-
-
Kenneson, A.1
Zhang, F.2
Hagedorn, C.H.3
Warren, S.T.4
-
7
-
-
23944431645
-
FMR1RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Tassone, F., Iwahashi, C. and Hagerman, P.J. (2004) FMR1RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol., 1, 103-105.
-
(2004)
RNA Biol.
, vol.1
, pp. 103-105
-
-
Tassone, F.1
Iwahashi, C.2
Hagerman, P.J.3
-
8
-
-
84879068188
-
Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms
-
Hagerman, P. (2013) Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms. Acta Neuropathol., 126, 1-19.
-
(2013)
Acta Neuropathol.
, vol.126
, pp. 1-19
-
-
Hagerman, P.1
-
9
-
-
84860653372
-
Neurodegeneration theRNAway
-
Renoux, A.J. and Todd, P.K. (2012) Neurodegeneration theRNAway. Prog. Neurobiol., 97, 173-189.
-
(2012)
Prog. Neurobiol.
, vol.97
, pp. 173-189
-
-
Renoux, A.J.1
Todd, P.K.2
-
10
-
-
0041880131
-
RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila
-
Jin, P., Zarnescu, D.C., Zhang, F., Pearson, C.E., Lucchesi, J.C., Moses, K. and Warren, S.T. (2003) RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron, 39, 739-747.
-
(2003)
Neuron
, vol.39
, pp. 739-747
-
-
Jin, P.1
Zarnescu, D.C.2
Zhang, F.3
Pearson, C.E.4
Lucchesi, J.C.5
Moses, K.6
Warren, S.T.7
-
11
-
-
70450203364
-
Pathogenic mechanisms of myotonic dystrophy
-
Lee, J.E. and Cooper, T.A. (2009) Pathogenic mechanisms of myotonic dystrophy. Biochem. Soc. Trans., 37, 1281-1286.
-
(2009)
Biochem. Soc. Trans.
, vol.37
, pp. 1281-1286
-
-
Lee, J.E.1
Cooper, T.A.2
-
12
-
-
0346243804
-
A muscleblind knockout model for myotonic dystrophy
-
Kanadia, R.N., Johnstone, K.A., Mankodi, A., Lungu, C., Thornton, C.A., Esson, D., Timmers, A.M., Hauswirth, W.W. and Swanson, M.S. (2003) A muscleblind knockout model for myotonic dystrophy. Science, 302, 1978-1980.
-
(2003)
Science
, vol.302
, pp. 1978-1980
-
-
Kanadia, R.N.1
Johnstone, K.A.2
Mankodi, A.3
Lungu, C.4
Thornton, C.A.5
Esson, D.6
Timmers, A.M.7
Hauswirth, W.W.8
Swanson, M.S.9
-
13
-
-
33746796393
-
Reversal ofRNAmissplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy
-
Kanadia, R.N., Shin, J., Yuan, Y., Beattie, S.G., Wheeler, T.M., Thornton, C.A. and Swanson, M.S. (2006) Reversal ofRNAmissplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy. Proc. Natl Acad. Sci. USA, 103, 11748-11753.
-
(2006)
Proc. Natl Acad. Sci. USA
, vol.103
, pp. 11748-11753
-
-
Kanadia, R.N.1
Shin, J.2
Yuan, Y.3
Beattie, S.G.4
Wheeler, T.M.5
Thornton, C.A.6
Swanson, M.S.7
-
14
-
-
84864912095
-
Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy
-
Charizanis, K., Lee, K.Y., Batra, R., Goodwin, M., Zhang, C., Yuan, Y., Shiue, L., Cline, M., Scotti, M.M., Xia, G. et al. (2012) Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy. Neuron, 75, 437-450.
-
(2012)
Neuron
, vol.75
, pp. 437-450
-
-
Charizanis, K.1
Lee, K.Y.2
Batra, R.3
Goodwin, M.4
Zhang, C.5
Yuan, Y.6
Shiue, L.7
Cline, M.8
Scotti, M.M.9
Xia, G.10
-
15
-
-
34547681603
-
Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome
-
Jin, P., Duan, R., Qurashi, A., Qin, Y., Tian, D., Rosser, T.C., Liu, H., Feng, Y. and Warren, S.T. (2007) Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome. Neuron, 55, 556-564.
-
(2007)
Neuron
, vol.55
, pp. 556-564
-
-
Jin, P.1
Duan, R.2
Qurashi, A.3
Qin, Y.4
Tian, D.5
Rosser, T.C.6
Liu, H.7
Feng, Y.8
Warren, S.T.9
-
16
-
-
34547697173
-
RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragileXCGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS
-
Sofola, O.A., Jin, P., Qin, Y., Duan, R., Liu, H., de Haro, M., Nelson, D.L. and Botas, J. (2007) RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragileXCGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron, 55, 565-571.
-
(2007)
Neuron
, vol.55
, pp. 565-571
-
-
Sofola, O.A.1
Jin, P.2
Qin, Y.3
Duan, R.4
Liu, H.5
de Haro, M.6
Nelson, D.L.7
Botas, J.8
-
17
-
-
77950529507
-
Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients
-
Sellier, C., Rau, F., Liu, Y., Tassone, F., Hukema, R.K., Gattoni, R., Schneider, A., Richard, S., Willemsen, R., Elliott, D.J. et al. (2010) Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J., 29, 1248-1261.
-
(2010)
EMBO J.
, vol.29
, pp. 1248-1261
-
-
Sellier, C.1
Rau, F.2
Liu, Y.3
Tassone, F.4
Hukema, R.K.5
Gattoni, R.6
Schneider, A.7
Richard, S.8
Willemsen, R.9
Elliott, D.J.10
-
18
-
-
84875804170
-
Sequestration ofDROSHA andDGCR8by expandedCGGRNArepeats alters microRNAprocessing in fragile X-associated tremor/ataxia syndrome
-
Sellier, C., Freyermuth, F., Tabet, R., Tran, T., He, F., Ruffenach, F., Alunni, V., Moine, H., Thibault, C., Page, A. et al. (2013) Sequestration ofDROSHA andDGCR8by expandedCGGRNArepeats alters microRNAprocessing in fragile X-associated tremor/ataxia syndrome. Cell Reports, 3, 869-880.
-
(2013)
Cell Reports
, vol.3
, pp. 869-880
-
-
Sellier, C.1
Freyermuth, F.2
Tabet, R.3
Tran, T.4
He, F.5
Ruffenach, F.6
Alunni, V.7
Moine, H.8
Thibault, C.9
Page, A.10
-
19
-
-
30344441794
-
Protein composition of the intranuclear inclusions of FXTAS
-
Iwahashi, C.K., Yasui, D.H., An, H.J., Greco, C.M., Tassone, F., Nannen, K., Babineau, B., Lebrilla, C.B., Hagerman, R.J. and Hagerman, P.J. (2006) Protein composition of the intranuclear inclusions of FXTAS. Brain, 129, 256-271.
-
(2006)
Brain
, vol.129
, pp. 256-271
-
-
Iwahashi, C.K.1
Yasui, D.H.2
An, H.J.3
Greco, C.M.4
Tassone, F.5
Nannen, K.6
Babineau, B.7
Lebrilla, C.B.8
Hagerman, R.J.9
Hagerman, P.J.10
-
20
-
-
80052598182
-
Spatial code recognition in neuronal RNA targeting: role of RNA-hnRNP A2 interactions
-
Muslimov, I.A., Patel, M.V., Rose, A. and Tiedge, H. (2011) Spatial code recognition in neuronal RNA targeting: role of RNA-hnRNP A2 interactions. J. Cell Biol., 194, 441-457.
-
(2011)
J. Cell Biol.
, vol.194
, pp. 441-457
-
-
Muslimov, I.A.1
Patel, M.V.2
Rose, A.3
Tiedge, H.4
-
21
-
-
83455162755
-
Retrotransposon activation contributes to fragile X premutation rCGG-mediated neurodegeneration
-
Tan, H., Qurashi, A., Poidevin, M., Nelson, D.L., Li, H. and Jin, P. (2012) Retrotransposon activation contributes to fragile X premutation rCGG-mediated neurodegeneration. Hum. Mol. Genet., 21, 57-65.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 57-65
-
-
Tan, H.1
Qurashi, A.2
Poidevin, M.3
Nelson, D.L.4
Li, H.5
Jin, P.6
-
22
-
-
84882801549
-
Altered ribostasis: RNA-protein granules in degenerative disorders
-
Ramaswami, M., Taylor, J.P. and Parker, R. (2013) Altered ribostasis: RNA-protein granules in degenerative disorders. Cell, 154, 727-736.
-
(2013)
Cell
, vol.154
, pp. 727-736
-
-
Ramaswami, M.1
Taylor, J.P.2
Parker, R.3
-
23
-
-
33749632259
-
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
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. et al. (2006) Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science, 314, 130-133.
-
(2006)
Science
, vol.314
, 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
-
24
-
-
41149180753
-
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
-
Sreedharan, J., Blair, I.P., Tripathi, V.B., Hu, X., Vance, C., Rogelj, B., Ackerley, S., Durnall, J.C., Williams, K.L., Buratti, E. et al. (2008) TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science, 319, 1668-1672.
-
(2008)
Science
, vol.319
, 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
-
25
-
-
61349162349
-
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
-
Vance, C., Rogelj, B., Hortobagyi, T., De Vos, K.J., Nishimura, A.L., Sreedharan, J., Hu, X., Smith, B., Ruddy, D., Wright, P. et al. (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
Hortobagyi, 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
-
26
-
-
42649120983
-
TARDBPmutations in individuals with sporadic and familial amyotrophic lateral sclerosis
-
Kabashi, E., Valdmanis, P.N., Dion, P., Spiegelman, D., McConkey, B.J., Vande Velde, C., Bouchard, J.P., Lacomblez, L., Pochigaeva, K., Salachas, F. et al. (2008)TARDBPmutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat. Genet., 40, 572-574.
-
(2008)
Nat. Genet.
, vol.40
, pp. 572-574
-
-
Kabashi, E.1
Valdmanis, P.N.2
Dion, P.3
Spiegelman, D.4
McConkey, B.J.5
Vande Velde, C.6
Bouchard, J.P.7
Lacomblez, L.8
Pochigaeva, K.9
Salachas, F.10
-
27
-
-
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. et al. (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
-
28
-
-
84862908655
-
A yeast functional screen predicts new candidate ALS disease genes
-
Couthouis, J., Hart, M.P., Shorter, J., De Jesus-Hernandez, M., Erion, R., Oristano, R., Liu, A.X., Ramos,D., Jethava, N., Hosangadi, D. et al. (2011)A yeast functional screen predicts new candidate ALS disease genes. Proc. Natl Acad. Sci. USA, 108, 20881-20890.
-
(2011)
Proc. Natl Acad. Sci. USA
, vol.108
, pp. 20881-20890
-
-
Couthouis, J.1
Hart, M.P.2
Shorter, J.3
De Jesus-Hernandez, M.4
Erion, R.5
Oristano, R.6
Liu, A.X.7
Ramos, D.8
Jethava, N.9
Hosangadi, D.10
-
29
-
-
84875605133
-
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
-
Kim, H.J., Kim, N.C., Wang, Y.D., Scarborough, E.A., Moore, J., Diaz, Z., MacLea, K.S., Freibaum, B., Li, S., Molliex, A. et al. (2013) Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature, 495, 467-473.
-
(2013)
Nature
, vol.495
, pp. 467-473
-
-
Kim, H.J.1
Kim, N.C.2
Wang, Y.D.3
Scarborough, E.A.4
Moore, J.5
Diaz, Z.6
MacLea, K.S.7
Freibaum, B.8
Li, S.9
Molliex, A.10
-
30
-
-
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. et al. (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
-
31
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
Renton, A.E., Majounie, E., Waite, A., Simon-Sanchez, J., Rollinson, S., Gibbs, J.R., Schymick, J.C., Laaksovirta, H., van Swieten, J.C., Myllykangas, L. 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
Simon-Sanchez, J.4
Rollinson, S.5
Gibbs, J.R.6
Schymick, J.C.7
Laaksovirta, H.8
van Swieten, J.C.9
Myllykangas, L.10
-
32
-
-
84883465132
-
Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons
-
Almeida, S., Gascon, E., Tran, H., Chou, H.J., Gendron, T.F., Degroot, S., Tapper, A.R., Sellier, C., Charlet-Berguerand, N., Karydas, A. et al. (2013) Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons. Acta Neuropathol, 126, 385-399.
-
(2013)
Acta Neuropathol
, vol.126
, pp. 385-399
-
-
Almeida, S.1
Gascon, E.2
Tran, H.3
Chou, H.J.4
Gendron, T.F.5
Degroot, S.6
Tapper, A.R.7
Sellier, C.8
Charlet-Berguerand, N.9
Karydas, A.10
-
33
-
-
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. et al. (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
-
34
-
-
79958720175
-
A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43
-
Lanson, N.A. Jr, Maltare, A., King, H., Smith, R., Kim, J.H., Taylor, J.P., Lloyd, T.E. and Pandey, U.B. (2011) A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43. Hum. Mol. Genet., 20, 2510-2523.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 2510-2523
-
-
Lanson Jr, N.A.1
Maltare, A.2
King, H.3
Smith, R.4
Kim, J.H.5
Taylor, J.P.6
Lloyd, T.E.7
Pandey, U.B.8
-
35
-
-
0029066110
-
Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TARDNAsequence motifs
-
Ou, S.H., Wu, F., Harrich, D., Garcia-Martinez, 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 TARDNAsequence motifs. J. Virol., 69, 3584-3596.
-
(1995)
J. Virol.
, vol.69
, pp. 3584-3596
-
-
Ou, S.H.1
Wu, F.2
Harrich, D.3
Garcia-Martinez, L.F.4
Gaynor, R.B.5
-
36
-
-
77958604956
-
Amyotrophic lateral sclerosis-associated proteins TDP-43 and FUS/TLS function in a common biochemical complex to co-regulate HDAC6 mRNA
-
Kim, S.H., Shanware, N.P., Bowler, M.J. and Tibbetts, R.S. (2010) Amyotrophic lateral sclerosis-associated proteins TDP-43 and FUS/TLS function in a common biochemical complex to co-regulate HDAC6 mRNA. J. Biol. Chem., 285, 34097-34105.
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 34097-34105
-
-
Kim, S.H.1
Shanware, N.P.2
Bowler, M.J.3
Tibbetts, R.S.4
-
37
-
-
79953180492
-
Characterizing the RNA targets and position-dependent splicing regulation by TDP-43
-
Tollervey, J.R., Curk, T., Rogelj, B., Briese, M., Cereda, M., Kayikci, M., Konig, J., Hortobagyi, T., Nishimura, A.L., Zupunski, V. et al. (2011) Characterizing the RNA targets and position-dependent splicing regulation by TDP-43. Nat. Neurosci., 14, 452-458.
-
(2011)
Nat. Neurosci.
, vol.14
, pp. 452-458
-
-
Tollervey, J.R.1
Curk, T.2
Rogelj, B.3
Briese, M.4
Cereda, M.5
Kayikci, M.6
Konig, J.7
Hortobagyi, T.8
Nishimura, A.L.9
Zupunski, V.10
-
38
-
-
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. et al. (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.Wancewicz, E.8
Mazur, C.9
-
39
-
-
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., Citro, A., Mehta, T., Zaarur, N., McKee, A., Bowser, R., Sherman, M. et al. (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
Citro, A.5
Mehta, T.6
Zaarur, N.7
McKee, A.8
Bowser, R.9
Sherman, M.10
-
40
-
-
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
-
41
-
-
79956304001
-
A 'two-hit' hypothesis for inclusion formation by carboxyl-terminal fragments of TDP-43 protein linked to RNA depletion and impaired microtubule-dependent transport
-
Pesiridis, G.S., Tripathy, K., Tanik, S., Trojanowski, J.Q. and Lee, V.M. (2011) A 'two-hit' hypothesis for inclusion formation by carboxyl-terminal fragments of TDP-43 protein linked to RNA depletion and impaired microtubule-dependent transport. J. Biol. Chem., 286, 18845-18855.
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 18845-18855
-
-
Pesiridis, G.S.1
Tripathy, K.2
Tanik, S.3
Trojanowski, J.Q.4
Lee, V.M.5
-
42
-
-
78650693402
-
Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome
-
Todd, P.K., Oh, S.Y., Krans, A., Pandey, U.B., Di Prospero, N.A., Min, K.T., Taylor, J.P. and Paulson, H.L. (2010) Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome. PLoS Genet., 6, e1001240.
-
(2010)
PLoS Genet.
, vol.6
-
-
Todd, P.K.1
Oh, S.Y.2
Krans, A.3
Pandey, U.B.4
Di Prospero, N.A.5
Min, K.T.6
Taylor, J.P.7
Paulson, H.L.8
-
43
-
-
75649135319
-
Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6
-
Fiesel, F.C., Voigt, A., Weber, S.S., Van Den Haute, C., Waldenmaier, A., Gorner, K., Walter, M., Anderson, M.L., Kern, J.V., Rasse, T.M. et al. (2010) Knockdown of transactive response DNA-binding protein (TDP-43) downregulates 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
Gorner, K.6
Walter, M.7
Anderson, M.L.8
Kern, J.V.9
Rasse, T.M.10
-
44
-
-
84877331220
-
CGGrepeat-associated translation mediates neurodegeneration in fragileXtremor ataxia syndrome
-
Todd, P.K., Oh, S.Y., Krans, A., He, F., Sellier, C., Frazer, M., Renoux, A.J., Chen, K.C., Scaglione, K.M., Basrur, V. et al. (2013)CGGrepeat-associated translation mediates neurodegeneration in fragileXtremor ataxia syndrome. Neuron, 78, 440-455.
-
(2013)
Neuron
, vol.78
, pp. 440-455
-
-
Todd, P.K.1
Oh, S.Y.2
Krans, A.3
He, F.4
Sellier, C.5
Frazer, M.6
Renoux, A.J.7
Chen, K.C.8
Scaglione, K.M.9
Basrur, V.10
-
45
-
-
77949444730
-
Fibroblast phenotype in male carriers of FMR1 premutation alleles
-
Garcia-Arocena, D., Yang, J.E., Brouwer, J.R., Tassone, F., Iwahashi, C., Berry-Kravis, E.M., Goetz, C.G., Sumis, A.M., Zhou, L., Nguyen, D.V. et al. (2010) Fibroblast phenotype in male carriers of FMR1 premutation alleles. Hum. Mol. Genet., 19, 299-312.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 299-312
-
-
Garcia-Arocena, D.1
Yang, J.E.2
Brouwer, J.R.3
Tassone, F.4
Iwahashi, C.5
Berry-Kravis, E.M.6
Goetz, C.G.7
Sumis, A.M.8
Zhou, L.9
Nguyen, D.V.10
-
46
-
-
67651151305
-
Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo
-
D'Ambrogio, A., Buratti, E., Stuani, C., Guarnaccia, C., Romano, M., Ayala, Y.M. and Baralle, F.E. (2009) Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo. Nucleic. Acids Res., 37, 4116-4126.
-
(2009)
Nucleic. Acids Res.
, vol.37
, pp. 4116-4126
-
-
D'Ambrogio, A.1
Buratti, E.2
Stuani, C.3
Guarnaccia, C.4
Romano, M.5
Ayala, Y.M.6
Baralle, F.E.7
-
47
-
-
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-R64.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. R46-R64
-
-
Lagier-Tourenne, C.1
Polymenidou, M.2
Cleveland, D.W.3
-
48
-
-
84860863700
-
Cell-free formation of RNA granules: bound RNAs identify features and components of cellular assemblies
-
Han, T.W., Kato, M., Xie, S., Wu, L.C., Mirzaei, H., Pei, J., Chen, M., Xie, Y., Allen, J., Xiao, G. et al. (2012) Cell-free formation of RNA granules: bound RNAs identify features and components of cellular assemblies. Cell, 149, 768-779.
-
(2012)
Cell
, vol.149
, pp. 768-779
-
-
Han, T.W.1
Kato, M.2
Xie, S.3
Wu, L.C.4
Mirzaei, H.5
Pei, J.6
Chen, M.7
Xie, Y.8
Allen, J.9
Xiao, G.10
-
49
-
-
0035965309
-
Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator ofCFTRexon 9
-
Buratti, E. and Baralle, F.E. (2001) Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator ofCFTRexon 9. J. Biol. Chem., 276, 36337-36343.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 36337-36343
-
-
Buratti, E.1
Baralle, F.E.2
-
50
-
-
77957918535
-
TDP-43-mediated neuron loss in vivo requires RNA-binding activity
-
Voigt, A., Herholz, D., Fiesel, F.C., Kaur, K., Muller, D., Karsten, P., Weber, S.S., Kahle, P.J., Marquardt, T. and Schulz, J.B. (2010) TDP-43-mediated neuron loss in vivo requires RNA-binding activity. PLoS One, 5, e12247.
-
(2010)
PLoS One
, vol.5
-
-
Voigt, A.1
Herholz, D.2
Fiesel, F.C.3
Kaur, K.4
Muller, D.5
Karsten, P.6
Weber, S.S.7
Kahle, P.J.8
Marquardt, T.9
Schulz, J.B.10
-
51
-
-
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
-
52
-
-
84878162335
-
Drosophila Answers to TDP-43 Proteinopathies
-
Romano, M., Feiguin, F. and Buratti, E. (2012) Drosophila Answers to TDP-43 Proteinopathies. J. Amino Acids, 2012, 356081.
-
(2012)
J. Amino Acids
, vol.2012
, pp. 356081
-
-
Romano, M.1
Feiguin, F.2
Buratti, E.3
-
53
-
-
76149120427
-
Global analysis of TDP-43 interacting proteins reveals strong association withRNA splicing and translation machinery
-
Freibaum, B.D., Chitta, R.K., High, A.A. and Taylor, J.P. (2010) Global analysis of TDP-43 interacting proteins reveals strong association withRNA splicing and translation machinery. J. Proteome Res, 9, 1104-1120.
-
(2010)
J. Proteome Res
, vol.9
, pp. 1104-1120
-
-
Freibaum, B.D.1
Chitta, R.K.2
High, A.A.3
Taylor, J.P.4
-
54
-
-
27844514227
-
TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing
-
Buratti, E., Brindisi, A., Giombi, M., Tisminetzky, S., Ayala, Y.M. and Baralle, F.E. (2005) TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing. J. Biol. Chem., 280, 37572-37584.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 37572-37584
-
-
Buratti, E.1
Brindisi, A.2
Giombi, M.3
Tisminetzky, S.4
Ayala, Y.M.5
Baralle, F.E.6
-
55
-
-
84861161751
-
Integrative genome-wide analysis reveals cooperative regulation of alternative splicing by hnRNP proteins
-
Huelga, S.C., Vu, A.Q., Arnold, J.D., Liang, T.Y., Liu, P.P., Yan, B.Y., Donohue, J.P., Shiue, L., Hoon, S., Brenner, S. et al. (2012) Integrative genome-wide analysis reveals cooperative regulation of alternative splicing by hnRNP proteins. Cell Reports, 1, 167-178.
-
(2012)
Cell Reports
, vol.1
, pp. 167-178
-
-
Huelga, S.C.1
Vu, A.Q.2
Arnold, J.D.3
Liang, T.Y.4
Liu, P.P.5
Yan, B.Y.6
Donohue, J.P.7
Shiue, L.8
Hoon, S.9
Brenner, S.10
-
56
-
-
60549097502
-
Genome-wide analysis of alternative pre-mRNA splicing and RNA-binding specificities of the Drosophila hnRNP A/B family members
-
Blanchette, M., Green, R.E., MacArthur, S., Brooks, A.N., Brenner, S.E., Eisen, M.B. and Rio, D.C. (2009) Genome-wide analysis of alternative pre-mRNA splicing and RNA-binding specificities of the Drosophila hnRNP A/B family members. Mol. Cell, 33, 438-449.
-
(2009)
Mol. Cell
, vol.33
, pp. 438-449
-
-
Blanchette, M.1
Green, R.E.2
MacArthur, S.3
Brooks, A.N.4
Brenner, S.E.5
Eisen, M.B.6
Rio, D.C.7
-
57
-
-
33744542647
-
Drosophila Eph receptor guides specific axon branches of mushroom body neurons
-
Boyle, M., Nighorn, A. and Thomas, J.B. (2006) Drosophila Eph receptor guides specific axon branches of mushroom body neurons. Development, 133, 1845-1854.
-
(2006)
Development
, vol.133
, pp. 1845-1854
-
-
Boyle, M.1
Nighorn, A.2
Thomas, J.B.3
-
58
-
-
0032993165
-
Isolation and characterization of Dek, a Drosophila eph receptor protein tyrosine kinase
-
Scully, A.L., McKeown, M. and Thomas, J.B. (1999) Isolation and characterization of Dek, a Drosophila eph receptor protein tyrosine kinase. Mol. Cel. Neurosci., 13, 337-347.
-
(1999)
Mol. Cel. Neurosci.
, vol.13
, pp. 337-347
-
-
Scully, A.L.1
McKeown, M.2
Thomas, J.B.3
-
59
-
-
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
-
60
-
-
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. III, 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, P.5
Herz, J.6
Yu, G.7
-
61
-
-
41649106307
-
TDP-43 regulates retinoblastoma protein phosphorylation through the repression of cyclin-dependent kinase 6 expression
-
Ayala, Y.M., Misteli, T. and Baralle, F.E. (2008) TDP-43 regulates retinoblastoma protein phosphorylation through the repression of cyclin-dependent kinase 6 expression. Proc. Natl Acad. Sci. USA, 105, 3785-3789.
-
(2008)
Proc. Natl Acad. Sci. USA
, vol.105
, pp. 3785-3789
-
-
Ayala, Y.M.1
Misteli, T.2
Baralle, F.E.3
-
62
-
-
69249092183
-
TDP-43 depletion induces neuronal celldamage through dysregulation ofRhofamilyGTPases
-
Iguchi, Y., Katsuno, M., Niwa, J., Yamada, S., Sone, J., Waza, M., Adachi, H., Tanaka, F., Nagata, K., Arimura, N. et al. (2009) TDP-43 depletion induces neuronal celldamage through dysregulation ofRhofamilyGTPases. J. Biol. Chem., 284, 22059-22066.
-
(2009)
J. Biol. Chem.
, vol.284
, pp. 22059-22066
-
-
Iguchi, Y.1
Katsuno, M.2
Niwa, J.3
Yamada, S.4
Sone, J.5
Waza, M.6
Adachi, H.7
Tanaka, F.8
Nagata, K.9
Arimura, N.10
-
63
-
-
70350356317
-
Frontotemporal dementia and amyotrophic lateral sclerosis-associated disease protein TDP-43 promotes dendritic branching
-
Lu, Y., Ferris, J. and Gao, F.B. (2009) Frontotemporal dementia and amyotrophic lateral sclerosis-associated disease protein TDP-43 promotes dendritic branching. Mol. Brain, 2, 30.
-
(2009)
Mol. Brai
, vol.2
, pp. 30
-
-
Lu, Y.1
Ferris, J.2
Gao, F.B.3
-
64
-
-
79957488875
-
Wild-type and A315 T mutant TDP-43 exert differential neurotoxicity in a Drosophila model of ALS
-
Estes, P.S., Boehringer, A., Zwick, R., Tang, J.E., Grigsby, B. and Zarnescu, D.C. (2011) Wild-type and A315 T mutant TDP-43 exert differential neurotoxicity in a Drosophila model of ALS. Hum. Mol. Genet., 20, 2308-2321.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 2308-2321
-
-
Estes, P.S.1
Boehringer, A.2
Zwick, R.3
Tang, J.E.4
Grigsby, B.5
Zarnescu, D.C.6
-
65
-
-
84873166518
-
TDP-43 loss-of-function causes neuronal loss due to defective steroid receptor-mediated gene program switching in Drosophila
-
Vanden Broeck, L., Naval-Sanchez, M., Adachi, Y., Diaper, D., Dourlen, P., Chapuis, J., Kleinberger, G., Gistelinck, M., Van Broeckhoven, C., Lambert, J.C. et al. (2013) TDP-43 loss-of-function causes neuronal loss due to defective steroid receptor-mediated gene program switching in Drosophila. Cell Reports, 3, 160-172.
-
(2013)
Cell Reports
, vol.3
, pp. 160-172
-
-
Vanden Broeck, L.1
Naval-Sanchez, M.2
Adachi, Y.3
Diaper, D.4
Dourlen, P.5
Chapuis, J.6
Kleinberger, G.7
Gistelinck, M.8
Van Broeckhoven, C.9
Lambert, J.C.10
-
66
-
-
84877292537
-
Loss of TDP-43 causes age-dependent progressive motor neuron degeneration
-
Iguchi, Y., Katsuno, M., Niwa, J., Takagi, S., Ishigaki, S., Ikenaka, K., Kawai, K., Watanabe, H., Yamanaka, K., Takahashi, R. et al. (2013) Loss of TDP-43 causes age-dependent progressive motor neuron degeneration. Brain, 136, 1371-1382.
-
(2013)
Brain
, vol.136
, pp. 1371-1382
-
-
Iguchi, Y.1
Katsuno, M.2
Niwa, J.3
Takagi, S.4
Ishigaki, S.5
Ikenaka, K.6
Kawai, K.7
Watanabe, H.8
Yamanaka, K.9
Takahashi, R.10
-
67
-
-
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. USA, 107, 3169-3174.
-
(2010)
Proc. Natl Acad. Sci. USA
, 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, E.A.7
Fushimi, K.8
Wu, J.Y.9
-
68
-
-
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
-
69
-
-
63949083624
-
Mimicking aspects of frontotemporal lobar degeneration and Lou Gehrig's disease in rats via TDP-43 overexpression
-
Tatom, J.B., Wang, D.B., Dayton, R.D., Skalli, O., Hutton, M.L., Dickson, D.W. and Klein, R.L. (2009) Mimicking aspects of frontotemporal lobar degeneration and Lou Gehrig's disease in rats via TDP-43 overexpression. Mol. Ther., 17, 607-613.
-
(2009)
Mol. Ther.
, vol.17
, pp. 607-613
-
-
Tatom, J.B.1
Wang, D.B.2
Dayton, R.D.3
Skalli, O.4
Hutton, M.L.5
Dickson, D.W.6
Klein, R.L.7
-
70
-
-
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. USA, 107, 3858-3863.
-
(2010)
Proc. Natl Acad. Sci. USA
, 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
-
71
-
-
63449132795
-
Nuclear functions of heterogeneous nuclear ribonucleoproteins A/B
-
He, Y. and Smith, R. (2009) Nuclear functions of heterogeneous nuclear ribonucleoproteins A/B. Cell. Mol. Life Sci. CMLS, 66, 1239-1256.
-
(2009)
Cell. Mol. Life Sci. CMLS
, vol.66
, pp. 1239-1256
-
-
He, Y.1
Smith, R.2
-
72
-
-
84871801926
-
C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
-
Fratta, P., Mizielinska, S., Nicoll, A.J., Zloh, M., Fisher, E.M., Parkinson, G. and Isaacs, A.M. (2012) C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci. Reports, 2, 1016.
-
(2012)
Sci. Reports
, vol.2
, pp. 1016
-
-
Fratta, P.1
Mizielinska, S.2
Nicoll, A.J.3
Zloh, M.4
Fisher, E.M.5
Parkinson, G.6
Isaacs, A.M.7
-
73
-
-
84875981640
-
The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures
-
Reddy, K., Zamiri, B., Stanley, S.Y., Macgregor, R.B. Jr and Pearson, C.E. (2013) The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures. J. Biol. Chem., 288, 9860-9866.
-
(2013)
J. Biol. Chem.
, vol.288
, pp. 9860-9866
-
-
Reddy, K.1
Zamiri, B.2
Stanley, S.Y.3
Macgregor Jr, R.B.4
Pearson, C.E.5
-
74
-
-
84874963127
-
hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/ TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations
-
Mori, K., Lammich, S., Mackenzie, I.R., Forne, I., Zilow, S., Kretzschmar, H., Edbauer, D., Janssens, J., Kleinberger, G., Cruts, M. et al. (2013) hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/ TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations. Acta Neuropathol., 125, 413-423.
-
(2013)
Acta Neuropathol.
, vol.125
, pp. 413-423
-
-
Mori, K.1
Lammich, S.2
Mackenzie, I.R.3
Forne, I.4
Zilow, S.5
Kretzschmar, H.6
Edbauer, D.7
Janssens, J.8
Kleinberger, G.9
Cruts, M.10
-
75
-
-
84886389563
-
Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion
-
208ra149
-
Sareen, D., O'Rourke, J.G., Meera, P., Muhammad, A.K., Grant, S., Simpkinson, M., Bell, S., Carmona, S., Ornelas, L., Sahabian, A. et al. (2013) Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion. Sci. Trans. Med., 5, 208ra149.
-
(2013)
Sci. Trans. Med.
, vol.5
-
-
Sareen, D.1
O'Rourke, J.G.2
Meera, P.3
Muhammad, A.K.4
Grant, S.5
Simpkinson, M.6
Bell, S.7
Carmona, S.8
Ornelas, L.9
Sahabian, A.10
-
76
-
-
33847660443
-
An optimized transgenesis system for Drosophila using germline-specific phiC31 integrases
-
Bischof, J., Maeda, R.K., Hediger, M., Karch, F. and Basler, K. (2007) An optimized transgenesis system for Drosophila using germline-specific phiC31 integrases. Proc. Natl Acad. Sci. USA, 104, 3312-3317.
-
(2007)
Proc. Natl Acad. Sci. USA
, vol.104
, pp. 3312-3317
-
-
Bischof, J.1
Maeda, R.K.2
Hediger, M.3
Karch, F.4
Basler, K.5
-
77
-
-
34250183177
-
HDAC6 rescues neurodegeneration and provides an essential link between autophagy and the UPS
-
Pandey, U.B., Nie, Z., Batlevi, Y., McCray, B.A., Ritson, G.P., Nedelsky, N.B., Schwartz, S.L., DiProspero, N.A., Knight, M.A., Schuldiner, O. et al. (2007) HDAC6 rescues neurodegeneration and provides an essential link between autophagy and the UPS. Nature, 447, 859-863.
-
(2007)
Nature
, vol.447
, pp. 859-863
-
-
Pandey, U.B.1
Nie, Z.2
Batlevi, Y.3
McCray, B.A.4
Ritson, G.P.5
Nedelsky, N.B.6
Schwartz, S.L.7
DiProspero, N.A.8
Knight, M.A.9
Schuldiner, O.10
-
78
-
-
0036347525
-
Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy
-
Mankodi, A., Takahashi, M.P., Jiang, H., Beck, C.L., Bowers, W.J., Moxley, R.T., Cannon, S.C. and Thornton, C.A. (2002) Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol. Cell, 10, 35-44.
-
(2002)
Mol. Cell
, vol.10
, pp. 35-44
-
-
Mankodi, A.1
Takahashi, M.P.2
Jiang, H.3
Beck, C.L.4
Bowers, W.J.5
Moxley, R.T.6
Cannon, S.C.7
Thornton, C.A.8
-
79
-
-
33645538015
-
Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: a clinical-pathological study
-
Louis, E., Moskowitz, C., Friez, M., Amaya, M. and Vonsattel, J.P. (2006) Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: a clinical-pathological study. Mov. Disord., 21, 420-425.
-
(2006)
Mov. Disord.
, vol.21
, pp. 420-425
-
-
Louis, E.1
Moskowitz, C.2
Friez, M.3
Amaya, M.4
Vonsattel, J.P.5
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