-
1
-
-
84875441083
-
The changing scene of amyotrophic lateral sclerosis
-
Robberecht, W. and Philips, T. (2013) The changing scene of amyotrophic lateral sclerosis. Nat. Rev. Neurosci. 14, 248-264
-
(2013)
Nat. Rev. Neurosci.
, vol.14
, pp. 248-264
-
-
Robberecht, W.1
Philips, T.2
-
2
-
-
84865654196
-
Amyotrophic lateral sclerosis: New insights into underlying molecular mechanisms and opportunities for therapeutic intervention
-
Cozzolino, M., Pesaresi, M.G., Gerbino, V., Grosskreutz, J. and Carri, M.T. (2012) Amyotrophic lateral sclerosis: new insights into underlying molecular mechanisms and opportunities for therapeutic intervention. Antioxid. Redox Signaling 17, 1277-1330
-
(2012)
Antioxid. Redox Signaling
, vol.17
, pp. 1277-1330
-
-
Cozzolino, M.1
Pesaresi, M.G.2
Gerbino, V.3
Grosskreutz, J.4
Carri, M.T.5
-
3
-
-
45249106162
-
Spinal muscular atrophy
-
Lunn, M.R. and Wang, C.H. (2008) Spinal muscular atrophy. Lancet 371, 2120-2133
-
(2008)
Lancet
, vol.371
, pp. 2120-2133
-
-
Lunn, M.R.1
Wang, C.H.2
-
4
-
-
84879881735
-
How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches
-
Wirth, B., Garbes, L. and Riessland, M. (2013) How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches. Curr. Opin. Genet. Dev. 23, 330-338
-
(2013)
Curr. Opin. Genet. Dev.
, vol.23
, pp. 330-338
-
-
Wirth, B.1
Garbes, L.2
Riessland, M.3
-
5
-
-
0021931762
-
Is Werdnig-Hoffmann disease a pure lower motor neuron disorder?
-
Towfighi, J., Young, R.S. and Ward, R.M. (1985) Is Werdnig-Hoffmann disease a pure lower motor neuron disorder? Acta Neuropathol. 65, 270-280
-
(1985)
Acta Neuropathol
, vol.65
, pp. 270-280
-
-
Towfighi, J.1
Young, R.S.2
Ward, R.M.3
-
6
-
-
79551663958
-
Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy
-
Mentis, G.Z., Blivis, D., Liu, W., Drobac, E., Crowder, M.E., Kong, L., Alvarez, F.J., Sumner, C.J. and O'Donovan, M.J. (2011) Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy. Neuron 69, 453-467
-
(2011)
Neuron
, vol.69
, pp. 453-467
-
-
Mentis, G.Z.1
Blivis, D.2
Liu, W.3
Drobac, E.4
Crowder, M.E.5
Kong, L.6
Alvarez, F.J.7
Sumner, C.J.8
O'Donovan, M.J.9
-
7
-
-
84858054407
-
Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction
-
Gogliotti, R.G., Quinlan, K.A., Barlow, C.B., Heier, C.R., Heckman, C.J. and Didonato, C.J. (2012) Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction. J. Neurosci. 32, 3818-3829
-
(2012)
J. Neurosci.
, vol.32
, pp. 3818-3829
-
-
Gogliotti, R.G.1
Quinlan, K.A.2
Barlow, C.B.3
Heier, C.R.4
Heckman, C.J.5
Didonato, C.J.6
-
8
-
-
77956603926
-
Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene
-
Park, G.H., Maeno-Hikichi, Y., Awano, T., Landmesser, L.T. and Monani, U.R. (2010) Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene. J. Neurosci. 30, 12005-12019
-
(2010)
J. Neurosci.
, vol.30
, pp. 12005-12019
-
-
Park, G.H.1
Maeno-Hikichi, Y.2
Awano, T.3
Landmesser, L.T.4
Monani, U.R.5
-
9
-
-
84862883258
-
Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy
-
Martinez, T.L., Kong, L., Wang, X., Osborne, M.A., Crowder, M.E., Van Meerbeke, J.P., Xu, X., Davis, C., Wooley, J., Goldhamer, D.J. et al. (2012) Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy. J. Neurosci. 32, 8703-8715
-
(2012)
J. Neurosci.
, vol.32
, pp. 8703-8715
-
-
Martinez, T.L.1
Kong, L.2
Wang, X.3
Osborne, M.A.4
Crowder, M.E.5
Van Meerbeke, J.P.6
Xu, X.7
Davis, C.8
Wooley, J.9
Goldhamer, D.J.10
-
10
-
-
84871718500
-
Spinal muscular atrophy: Going beyond the motor neuron
-
Hamilton, G. and Gillingwater, T.H. (2013) Spinal muscular atrophy: going beyond the motor neuron. Trends. Mol. Med. 19, 40-50
-
(2013)
Trends. Mol. Med.
, vol.19
, pp. 40-50
-
-
Hamilton, G.1
Gillingwater, T.H.2
-
11
-
-
66049124365
-
The role of RNP biogenesis in spinal muscular atrophy
-
Chari, A., Paknia, E. and Fischer, U. (2009) The role of RNP biogenesis in spinal muscular atrophy. Curr. Opin. Cell Biol. 21, 387-393
-
(2009)
Curr. Opin. Cell Biol.
, vol.21
, pp. 387-393
-
-
Chari, A.1
Paknia, E.2
Fischer, U.3
-
12
-
-
70350569286
-
Mechanisms of alternative splicing regulation: Insights from molecular and genomics approaches
-
Chen, M. and Manley, J.L. (2009) Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches. Nat. Rev. Mol. Cell Biol. 10, 741-754
-
(2009)
Nat. Rev. Mol. Cell Biol.
, vol.10
, pp. 741-754
-
-
Chen, M.1
Manley, J.L.2
-
13
-
-
43049168361
-
SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing
-
Zhang, Z., Lotti, F., Dittmar, K., Younis, I., Wan, L., Kasim, M. and Dreyfuss, G. (2008) SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing. Cell 133, 585-600
-
(2008)
Cell
, vol.133
, pp. 585-600
-
-
Zhang, Z.1
Lotti, F.2
Dittmar, K.3
Younis, I.4
Wan, L.5
Kasim, M.6
Dreyfuss, G.7
-
14
-
-
74249094999
-
Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy
-
Bäumer, D., Lee, S., Nicholson, G., Davies, J.L., Parkinson, N.J., Murray, L.M., Gillingwater, T.H., Ansorge, O., Davies, K.E. and Talbot, K. (2009) Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy. PLoS Genet. 5, e1000773
-
(2009)
PLoS Genet
, vol.5
-
-
Bäumer, D.1
Lee, S.2
Nicholson, G.3
Davies, J.L.4
Parkinson, N.J.5
Murray, L.M.6
Gillingwater, T.H.7
Ansorge, O.8
Davies, K.E.9
Talbot, K.10
-
15
-
-
84867555865
-
An SMN-dependent U12 splicing event essential for motor circuit function
-
Lotti, F., Imlach, W.L., Saieva, L., Beck, E.S., Hao le, T., Li, D.K., Jiao, W., Mentis, G.Z., Beattie, C.E., McCabe, B.D. and Pellizzoni, L. (2012) An SMN-dependent U12 splicing event essential for motor circuit function. Cell 151, 440-454
-
(2012)
Cell
, vol.151
, pp. 440-454
-
-
Lotti, F.1
Imlach, W.L.2
Saieva, L.3
Beck, E.S.4
Hao Le, T.5
Li, D.K.6
Jiao, W.7
Mentis, G.Z.8
Beattie, C.E.9
McCabe, B.D.10
Pellizzoni, L.11
-
16
-
-
67651083390
-
Spinal muscular atrophy: Why do low levels of survival motor neuron protein make motor neurons sick?
-
Burghes, A.H. and Beattie, C.E. (2009) Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat. Rev. Neurosci. 10, 597-609
-
(2009)
Nat. Rev. Neurosci.
, vol.10
, pp. 597-609
-
-
Burghes, A.H.1
Beattie, C.E.2
-
17
-
-
0345599021
-
Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of β-actin mRNA in growth cones of motoneurons
-
Rossoll, W., Jablonka, S., Andreassi, C., Kroning, A.K., Karle, K., Monani, U.R. and Sendtner, M. (2003) Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of β-actin mRNA in growth cones of motoneurons. J. Cell Biol. 163, 801-812
-
(2003)
J. Cell Biol.
, vol.163
, pp. 801-812
-
-
Rossoll, W.1
Jablonka, S.2
Andreassi, C.3
Kroning, A.K.4
Karle, K.5
Monani, U.R.6
Sendtner, M.7
-
18
-
-
63349085410
-
Dendritic LSm1/CBP80-mRNPs mark the early steps of transport commitment and translational control
-
di Penta, A., Mercaldo, V., Florenzano, F., Munck, S., Ciotti, M.T., Zalfa, F., Mercanti, D., Molinari, M., Bagni, C. and Achsel, T. (2009) Dendritic LSm1/CBP80-mRNPs mark the early steps of transport commitment and translational control. J. Cell Biol. 184, 423-435
-
(2009)
J. Cell Biol.
, vol.184
, pp. 423-435
-
-
Di Penta, A.1
Mercaldo, V.2
Florenzano, F.3
Munck, S.4
Ciotti, M.T.5
Zalfa, F.6
Mercanti, D.7
Molinari, M.8
Bagni, C.9
Achsel, T.10
-
19
-
-
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. 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
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
-
20
-
-
61349156118
-
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
-
Kwiatkowski, Jr, T.J., 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
-
21
-
-
82955236089
-
RNA targets of wild-type and mutant FET family proteins
-
Hoell, J.I., Larsson, E., Runge, S., Nusbaum, J.D., Duggimpudi, S., Farazi, T.A., Hafner, M., Borkhardt, A., Sander, C. and Tuschl, T. (2011) RNA targets of wild-type and mutant FET family proteins. Nat. Struct. Mol. Biol. 18, 1428-1431
-
(2011)
Nat. Struct. Mol. Biol.
, vol.18
, pp. 1428-1431
-
-
Hoell, J.I.1
Larsson, E.2
Runge, S.3
Nusbaum, J.D.4
Duggimpudi, S.5
Farazi, T.A.6
Hafner, M.7
Borkhardt, A.8
Sander, C.9
Tuschl, T.10
-
22
-
-
84868152371
-
Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs
-
Lagier-Tourenne, C., Polymenidou, M., Hutt, K.R., Vu, A.Q., Baughn, M., Huelga, S.C., Clutario, K.M., Ling, S.C., Liang, T.Y., Mazur, C. et al. (2012) Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs. Nat. Neurosci. 15, 1488-1497
-
(2012)
Nat. Neurosci.
, vol.15
, pp. 1488-1497
-
-
Lagier-Tourenne, C.1
Polymenidou, M.2
Hutt, K.R.3
Vu, A.Q.4
Baughn, M.5
Huelga, S.C.6
Clutario, K.M.7
Ling, S.C.8
Liang, T.Y.9
Mazur, C.10
-
23
-
-
84866126892
-
Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain
-
Rogelj, B., Easton, L.E., Bogu, G.K., Stanton, L.W., Rot, G., Curk, T., Zupan, B., Sugimoto, Y., Modic, M., Haberman, N. et al. (2012) Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain. Sci. Rep. 2, 603
-
(2012)
Sci. Rep.
, vol.2
, pp. 603
-
-
Rogelj, B.1
Easton, L.E.2
Bogu, G.K.3
Stanton, L.W.4
Rot, G.5
Curk, T.6
Zupan, B.7
Sugimoto, Y.8
Modic, M.9
Haberman, N.10
-
24
-
-
0032561190
-
Oncoprotein TLS interacts with serine-arginine proteins involved in RNA splicing
-
Yang, L., Embree, L.J., Tsai, S. and Hickstein, D.D. (1998) Oncoprotein TLS interacts with serine-arginine proteins involved in RNA splicing. J. Biol. Chem. 273, 27761-27764
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 27761-27764
-
-
Yang, L.1
Embree, L.J.2
Tsai, S.3
Hickstein, D.D.4
-
25
-
-
0034053964
-
TLS-ERG leukemia fusion protein inhibits RNA splicing mediated by serine-arginine proteins
-
Yang, L., Embree, L.J. and Hickstein, D.D. (2000) TLS-ERG leukemia fusion protein inhibits RNA splicing mediated by serine-arginine proteins. Mol. Cell. Biol. 20, 3345-3354
-
(2000)
Mol. Cell. Biol.
, vol.20
, pp. 3345-3354
-
-
Yang, L.1
Embree, L.J.2
Hickstein, D.D.3
-
26
-
-
84878131682
-
TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: Summary and update
-
Lattante, S., Rouleau, G.A. and Kabashi, E. (2013) TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update. Hum. Mutat. 34, 812-826
-
(2013)
Hum. Mutat.
, vol.34
, pp. 812-826
-
-
Lattante, S.1
Rouleau, G.A.2
Kabashi, E.3
-
27
-
-
80053646130
-
Nuclear localization sequence of FUS and induction of stress granules by ALS mutants
-
Gal, J., Zhang, J., Kwinter, D.M., Zhai, J., Jia, H., Jia, J. and Zhu, H. (2011) Nuclear localization sequence of FUS and induction of stress granules by ALS mutants. Neurobiol. Aging 32, e2327-e2340
-
(2011)
Neurobiol. Aging
, vol.32
-
-
Gal, J.1
Zhang, J.2
Kwinter, D.M.3
Zhai, J.4
Jia, H.5
Jia, J.6
Zhu, H.7
-
28
-
-
77955792022
-
ALS-associated fused in sarcoma (FUS) mutations disrupt transportin-mediated nuclear import
-
Dormann, D., Rodde, R., Edbauer, D., Bentmann, E., Fischer, I., Hruscha, A., Than, M.E., Mackenzie, I.R., Capell, A., Schmid, B. et al. (2010) ALS-associated fused in sarcoma (FUS) mutations disrupt transportin-mediated nuclear import. EMBO J. 29, 2841-2857
-
(2010)
EMBO J
, vol.29
, pp. 2841-2857
-
-
Dormann, D.1
Rodde, R.2
Edbauer, D.3
Bentmann, E.4
Fischer, I.5
Hruscha, A.6
Than, M.E.7
Mackenzie, I.R.8
Capell, A.9
Schmid, B.10
-
29
-
-
67349171403
-
Human U1 snRNA forms a new chromatin-associated snRNP with TAF15
-
Jobert, L., Pinzó n, N., Van Herreweghe, E., Jády, B.E., Guialis, A., Kiss, T. and Tora, L. (2009) Human U1 snRNA forms a new chromatin-associated snRNP with TAF15. EMBO Rep. 10, 494-500
-
(2009)
EMBO Rep.
, vol.10
, pp. 494-500
-
-
Jobert, L.1
Pinzón, N.2
Van Herreweghe, E.3
Jády, B.E.4
Guialis, A.5
Kiss, T.6
Tora, L.7
-
30
-
-
0030596083
-
Molecular cloning and subcellular localisation of the snRNP-associated protein 69KD, a structural homologue of the proto-oncoproteins TLS and EWS with RNA and DNA-binding properties
-
Hackl, W. and Lührmann, R. (1996) Molecular cloning and subcellular localisation of the snRNP-associated protein 69KD, a structural homologue of the proto-oncoproteins TLS and EWS with RNA and DNA-binding properties. J. Mol. Biol. 264, 843-851
-
(1996)
J. Mol. Biol.
, vol.264
, pp. 843-851
-
-
Hackl, W.1
Lührmann, R.2
-
31
-
-
84873314088
-
Spliceosome integrity is defective in the motor neuron diseases ALS and SMA
-
Tsuiji, H., Iguchi, Y., Furuya, A., Kataoka, A., Hatsuta, H., Atsuta, N., Tanaka, F., Hashizume, Y., Akatsu, H., Murayama, S. et al. (2013) Spliceosome integrity is defective in the motor neuron diseases ALS and SMA. EMBO Mol. Med. 5, 221-234
-
(2013)
EMBO Mol. Med.
, vol.5
, pp. 221-234
-
-
Tsuiji, H.1
Iguchi, Y.2
Furuya, A.3
Kataoka, A.4
Hatsuta, H.5
Atsuta, N.6
Tanaka, F.7
Hashizume, Y.8
Akatsu, H.9
Murayama, S.10
-
32
-
-
84868153116
-
FUS-SMN protein interactions link the motor neuron diseases ALS and SMA
-
Yamazaki, T., Chen, S., Yu, Y., Yan, B., Haertlein, T.C., Carrasco, M.A., Tapia, J.C., Zhai, B., Das, R., Lalancette-Hebert, M. et al. (2012) FUS-SMN protein interactions link the motor neuron diseases ALS and SMA. Cell Rep. 2, 799-806
-
(2012)
Cell Rep.
, vol.2
, pp. 799-806
-
-
Yamazaki, T.1
Chen, S.2
Yu, Y.3
Yan, B.4
Haertlein, T.C.5
Carrasco, M.A.6
Tapia, J.C.7
Zhai, B.8
Das, R.9
Lalancette-Hebert, M.10
-
33
-
-
84881520627
-
ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN
-
Groen, E.J., Fumoto, K., Blokhuis, A.M., Engelen-Lee, J., Zhou, Y., van den Heuvel, D.M., Koppers, M., van Diggelen, F., van Heest, J., Demmers, J.A. et al. (2013) ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN. Hum. Mol. Genet. 22, 3690-3704
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 3690-3704
-
-
Groen, E.J.1
Fumoto, K.2
Blokhuis, A.M.3
Engelen-Lee, J.4
Zhou, Y.5
Van Den Heuvel, D.M.6
Koppers, M.7
Van Diggelen, F.8
Van Heest, J.9
Demmers, J.A.10
-
34
-
-
84877590417
-
Mislocalised FUS mutants stall spliceosomal snRNPs in the cytoplasm
-
Gerbino, V., Carri, M.T., Cozzolino, M. and Achsel, T. (2013) Mislocalised FUS mutants stall spliceosomal snRNPs in the cytoplasm. Neurobiol. Dis. 55, 120-128
-
(2013)
Neurobiol. Dis.
, vol.55
, pp. 120-128
-
-
Gerbino, V.1
Carri, M.T.2
Cozzolino, M.3
Achsel, T.4
-
35
-
-
84874262984
-
ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43
-
Arnold, E.S., Ling, S.C., Huelga, S.C., Lagier-Tourenne, C., Polymenidou, M., Ditsworth, D., Kordasiewicz, H.B., McAlonis-Downes, M., Platoshyn, O., Parone, P.A. et al. (2013) ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43. Proc. Natl. Acad. Sci. U.S.A. 110, E736-E745
-
(2013)
Proc. Natl. Acad. Sci. U.S.A.
, vol.110
-
-
Arnold, E.S.1
Ling, S.C.2
Huelga, S.C.3
Lagier-Tourenne, C.4
Polymenidou, M.5
Ditsworth, D.6
Kordasiewicz, H.B.7
McAlonis-Downes, M.8
Platoshyn, O.9
Parone, P.A.10
-
36
-
-
84861929838
-
TDP-43: Gumming up neurons through protein-protein and protein-RNA interactions
-
Buratti, E. and Baralle, F.E. (2012) TDP-43: gumming up neurons through protein-protein and protein-RNA interactions. Trends Biochem. Sci. 37, 237-247
-
(2012)
Trends Biochem. Sci.
, vol.37
, pp. 237-247
-
-
Buratti, E.1
Baralle, F.E.2
-
37
-
-
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
-
38
-
-
84881518613
-
Decreased number of Gemini of coiled bodies and U12 snRNA level in amyotrophic lateral sclerosis
-
Ishihara, T., Ariizumi, Y., Shiga, A., Kato, T., Tan, C.F., Sato, T., Miki, Y., Yokoo, M., Fujino, T., Koyama, A. et al. (2013) Decreased number of Gemini of coiled bodies and U12 snRNA level in amyotrophic lateral sclerosis. Hum. Mol. Genet. 22, 4136-4147
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 4136-4147
-
-
Ishihara, T.1
Ariizumi, Y.2
Shiga, A.3
Kato, T.4
Tan, C.F.5
Sato, T.6
Miki, Y.7
Yokoo, M.8
Fujino, T.9
Koyama, A.10
-
39
-
-
84881024167
-
Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum
-
Cruts, M., Gijselinck, I., Van Langenhove, T., van der Zee, J. and Van Broeckhoven, C. (2013) Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum. Trends Neurosci. 36, 450-459
-
(2013)
Trends Neurosci
, vol.36
, pp. 450-459
-
-
Cruts, M.1
Gijselinck, I.2
Van Langenhove, T.3
Van Der Zee, J.4
Van Broeckhoven, C.5
-
40
-
-
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, Jr, R.B. 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
-
41
-
-
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. Rep. 2, 1016
-
(2012)
Sci. Rep.
, 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
-
42
-
-
0029919450
-
Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy
-
Timchenko, L.T., Miller, J.W., Timchenko, N.A., DeVore, D.R., Datar, K.V., Lin, L., Roberts, R., Caskey, C.T. and Swanson, M.S. (1996) Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res. 24, 4407-4414
-
(1996)
Nucleic Acids Res
, vol.24
, pp. 4407-4414
-
-
Timchenko, L.T.1
Miller, J.W.2
Timchenko, N.A.3
Devore, D.R.4
Datar, K.V.5
Lin, L.6
Roberts, R.7
Caskey, C.T.8
Swanson, M.S.9
-
43
-
-
0034282958
-
Recruitment of human muscleblind proteins to (CUG)n expansions associated with myotonic dystrophy
-
Miller, J.W., Urbinati, C.R., Teng-Umnuay, P., Stenberg, M.G., Byrne, B.J., Thornton, C.A. and Swanson, M.S. (2000) Recruitment of human muscleblind proteins to (CUG)n expansions associated with myotonic dystrophy. EMBO J. 19, 4439-4448
-
(2000)
EMBO J
, vol.19
, pp. 4439-4448
-
-
Miller, J.W.1
Urbinati, C.R.2
Teng-Umnuay, P.3
Stenberg, M.G.4
Byrne, B.J.5
Thornton, C.A.6
Swanson, M.S.7
-
44
-
-
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
-
45
-
-
84877342215
-
Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration
-
Xu, Z., Poidevin, M., Li, X., Li, Y., Shu, L., Nelson, D.L., Li, H., Hales, C.M., Gearing, M., Wingo, T.S. and Jin, P. (2013) Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration. Proc. Natl. Acad. Sci. U.S.A. 110, 7778-7783
-
(2013)
Proc. Natl. Acad. Sci. U.S.A.
, vol.110
, pp. 7778-7783
-
-
Xu, Z.1
Poidevin, M.2
Li, X.3
Li, Y.4
Shu, L.5
Nelson, D.L.6
Li, H.7
Hales, C.M.8
Gearing, M.9
Wingo, T.S.10
Jin, P.11
-
46
-
-
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
-
47
-
-
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
-
48
-
-
42449163952
-
TDP-43, the signature protein of FTLD-U, is a neuronal activity-responsive factor
-
Wang, I.F., Wu, L.S., Chang, H.Y. and Shen, C.K. (2008) TDP-43, the signature protein of FTLD-U, is a neuronal activity-responsive factor. J. Neurochem. 105, 797-806
-
(2008)
J. Neurochem.
, vol.105
, pp. 797-806
-
-
Wang, I.F.1
Wu, L.S.2
Chang, H.Y.3
Shen, C.K.4
-
49
-
-
30544448358
-
TLS facilitates transport of mRNA encoding an actin-stabilizing protein to dendritic spines
-
Fujii, R. and Takumi, T. (2005) TLS facilitates transport of mRNA encoding an actin-stabilizing protein to dendritic spines. J. Cell Sci. 118, 5755-5765
-
(2005)
J. Cell Sci.
, vol.118
, pp. 5755-5765
-
-
Fujii, R.1
Takumi, T.2
-
50
-
-
33645727310
-
Characterization of an RNA granule from developing brain
-
Elvira, G., Wasiak, S., Blandford, V., Tong, X.K., Serrano, A., Fan, X., del Rayo Sanchez-Carbente, M., Servant, F., Bell, A.W., Boismenu, D. et al. (2006) Characterization of an RNA granule from developing brain. Mol. Cell. Proteomics 5, 635-651
-
(2006)
Mol. Cell. Proteomics
, vol.5
, pp. 635-651
-
-
Elvira, G.1
Wasiak, S.2
Blandford, V.3
Tong, X.K.4
Serrano, A.5
Fan, X.6
Del Rayo Sanchez-Carbente, M.7
Servant, F.8
Bell, A.W.9
Boismenu, D.10
-
51
-
-
4143088149
-
Kinesin transports RNA: Isolation and characterization of an RNA-transporting granule
-
Kanai, Y., Dohmae, N. and Hirokawa, N. (2004) Kinesin transports RNA: isolation and characterization of an RNA-transporting granule. Neuron 43, 513-525
-
(2004)
Neuron
, vol.43
, pp. 513-525
-
-
Kanai, Y.1
Dohmae, N.2
Hirokawa, N.3
-
52
-
-
84874272095
-
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
-
Ash, P.E., Bieniek, K.F., Gendron, T.F., Caulfield, T., Lin, W.L., Dejesus-Hernandez, M., van Blitterswijk, M.M., Jansen-West, K., Paul, 3rd, J.W., Rademakers, R. et al. (2013) Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 77, 639-646
-
(2013)
Neuron
, vol.77
, pp. 639-646
-
-
Ash, P.E.1
Bieniek, K.F.2
Gendron, T.F.3
Caulfield, T.4
Lin, W.L.5
Dejesus-Hernandez, M.6
Van Blitterswijk, M.M.7
Jansen-West, K.8
Paul III, J.W.9
Rademakers, R.10
-
53
-
-
84874962380
-
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS
-
Mori, K., Weng, S.M., Arzberger, T., May, S., Rentzsch, K., Kremmer, E., Schmid, B., Kretzschmar, H.A., Cruts, M., Van Broeckhoven, C. et al. (2013) The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 339, 1335-1338
-
(2013)
Science
, vol.339
, pp. 1335-1338
-
-
Mori, K.1
Weng, S.M.2
Arzberger, T.3
May, S.4
Rentzsch, K.5
Kremmer, E.6
Schmid, B.7
Kretzschmar, H.A.8
Cruts, M.9
Van Broeckhoven, C.10
-
54
-
-
84873044474
-
A novel function for the survival motoneuron protein as a translational regulator
-
Sanchez, G., Dury, A.Y., Murray, L.M., Biondi, O., Tadesse, H., El Fatimy, R., Kothary, R., Charbonnier, F., Khandjian, E.W. and Cô té, J. (2013) A novel function for the survival motoneuron protein as a translational regulator. Hum. Mol. Genet. 22, 668-684
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 668-684
-
-
Sanchez, G.1
Dury, A.Y.2
Murray, L.M.3
Biondi, O.4
Tadesse, H.5
El Fatimy, R.6
Kothary, R.7
Charbonnier, F.8
Khandjian, E.W.9
Côté, J.10
|