-
1
-
-
84893649256
-
State of play in amyotrophic lateral sclerosis genetics
-
Renton AE, Chio A, Traynor BJ. State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci 2014; 17: 17-23.
-
(2014)
Nat Neurosci
, vol.17
, pp. 17-23
-
-
Renton, A.E.1
Chio, A.2
Traynor, B.J.3
-
2
-
-
61349162349
-
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
-
Vance C, Rogelj B, Hortobagyi T, De Vos KJ, Nishimura AL, Sreedharan J et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 2009; 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
-
3
-
-
61349156118
-
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
-
Kwiatkowski Jr TJ, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 2009; 323: 1205-1208.
-
(2009)
Science
, vol.323
, pp. 1205-1208
-
-
Kwiatkowski, T.J.1
Bosco, D.A.2
Leclerc, A.L.3
Tamrazian, E.4
Vanderburg, C.R.5
Russ, C.6
-
4
-
-
84155171976
-
Understanding the role of TDP-43 and FUS/TLS in ALS and beyond
-
Da Cruz S, Cleveland DW. Understanding the role of TDP-43 and FUS/TLS in ALS and beyond. Curr Opin Neurobiol 2011; 21: 904-919.
-
(2011)
Curr Opin Neurobiol
, vol.21
, pp. 904-919
-
-
Da Cruz, S.1
Cleveland, D.W.2
-
5
-
-
84864366184
-
Structural and energetic basis of ALS-causing mutations in the atypical proline-tyrosine nuclear localization signal of the Fused in Sarcoma protein (FUS)
-
Zhang ZC, Chook YM. Structural and energetic basis of ALS-causing mutations in the atypical proline-tyrosine nuclear localization signal of the Fused in Sarcoma protein (FUS). Proc Natl Acad Sci USA 2012; 109: 12017-12021.
-
(2012)
Proc Natl Acad Sci USA
, vol.109
, pp. 12017-12021
-
-
Zhang, Z.C.1
Chook, Y.M.2
-
6
-
-
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 et al. ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import. EMBO J 2010; 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
-
7
-
-
73249115808
-
X-ray structure of Pur-alpha reveals a Whirly-like fold and an unusual nucleic-acid binding surface
-
Graebsch A, Roche S, Niessing D. X-ray structure of Pur-alpha reveals a Whirly-like fold and an unusual nucleic-acid binding surface. Proc Natl Acad Sci USA 2009; 106: 18521-18526.
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 18521-18526
-
-
Graebsch, A.1
Roche, S.2
Niessing, D.3
-
8
-
-
4143088149
-
Kinesin transports RNA: Isolation and characterization of an RNA-transporting granule
-
Kanai Y, Dohmae N, Hirokawa N. Kinesin transports RNA: isolation and characterization of an RNA-transporting granule. Neuron 2004; 43: 513-525.
-
(2004)
Neuron
, vol.43
, pp. 513-525
-
-
Kanai, Y.1
Dohmae, N.2
Hirokawa, N.3
-
9
-
-
59449092121
-
Multiple roles for Puralpha in cellular and viral regulation
-
White MK, Johnson EM, Khalili K. Multiple roles for Puralpha in cellular and viral regulation. Cell Cycle 2009; 8: 1-7.
-
(2009)
Cell Cycle
, vol.8
, pp. 1-7
-
-
White, M.K.1
Johnson, E.M.2
Khalili, K.3
-
10
-
-
52449118027
-
Negative regulation of AbetaPP gene expression by pur-alpha
-
Darbinian N, Cui J, Basile A, Del Valle L, Otte J, Miklossy J et al. Negative regulation of AbetaPP gene expression by pur-alpha. J Alzheimers Dis 2008; 15: 71-82.
-
(2008)
J Alzheimers Dis
, vol.15
, pp. 71-82
-
-
Darbinian, N.1
Cui, J.2
Basile, A.3
Del Valle, L.4
Otte, J.5
Miklossy, J.6
-
11
-
-
33645885357
-
Role of Pur alpha in targeting mRNA to sites of translation in hippocampal neuronal dendrites
-
Johnson EM, Kinoshita Y, Weinreb DB, Wortman MJ, Simon R, Khalili K et al. Role of Pur alpha in targeting mRNA to sites of translation in hippocampal neuronal dendrites. J Neurosci Res 2006; 83: 929-943.
-
(2006)
J Neurosci Res
, vol.83
, pp. 929-943
-
-
Johnson, E.M.1
Kinoshita, Y.2
Weinreb, D.B.3
Wortman, M.J.4
Simon, R.5
Khalili, K.6
-
12
-
-
84856097593
-
Lack of Pur-alpha alters postnatal brain development and causes megalencephaly
-
Hokkanen S, Feldmann HM, Ding H, Jung CK, Bojarski L, Renner-Muller I et al. Lack of Pur-alpha alters postnatal brain development and causes megalencephaly. Hum Mol Genet 2012; 21: 473-484.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 473-484
-
-
Hokkanen, S.1
Feldmann, H.M.2
Ding, H.3
Jung, C.K.4
Bojarski, L.5
Renner-Muller, I.6
-
13
-
-
84886389563
-
Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion
-
208ra149
-
Sareen D, O'Rourke JG, Meera P, Muhammad AK, Grant S, Simpkinson M et al. Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion. Sci Transl Med 2013; 5: 208ra149.
-
(2013)
Sci Transl Med
, vol.5
-
-
Sareen, D.1
O'Rourke, J.G.2
Meera, P.3
Muhammad, A.K.4
Grant, S.5
Simpkinson, M.6
-
14
-
-
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 DL et al. Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration. Proc Natl Acad Sci USA 2013; 110: 7778-7783.
-
(2013)
Proc Natl Acad Sci USA
, vol.110
, pp. 7778-7783
-
-
Xu, Z.1
Poidevin, M.2
Li, X.3
Li, Y.4
Shu, L.5
Nelson, D.L.6
-
15
-
-
84897500412
-
Compromised paraspeckle formation as a pathogenic factor in FUSopathies
-
Shelkovnikova TA, Robinson HK, Troakes C, Ninkina N, Buchman VL. Compromised paraspeckle formation as a pathogenic factor in FUSopathies. Hum Mol Genet 2014; 23: 2298-2312.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 2298-2312
-
-
Shelkovnikova, T.A.1
Robinson, H.K.2
Troakes, C.3
Ninkina, N.4
Buchman, V.L.5
-
16
-
-
84859569070
-
Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability
-
Bilican B, Serio A, Barmada SJ, Nishimura AL, Sullivan GJ, Carrasco M et al. Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability. Proc Natl Acad Sci USA 2012; 109: 5803-5808.
-
(2012)
Proc Natl Acad Sci USA
, vol.109
, pp. 5803-5808
-
-
Bilican, B.1
Serio, A.2
Barmada, S.J.3
Nishimura, A.L.4
Sullivan, G.J.5
Carrasco, M.6
-
17
-
-
0033611157
-
RNA-binding proteins TIA-1 and TIAR link the phosphorylation of eIF-2 alpha to the assembly of mammalian stress granules
-
Kedersha NL, Gupta M, Li W, Miller I, Anderson P. RNA-binding proteins TIA-1 and TIAR link the phosphorylation of eIF-2 alpha to the assembly of mammalian stress granules. J Cell Biol 1999; 147: 1431-1442.
-
(1999)
J Cell Biol
, vol.147
, pp. 1431-1442
-
-
Kedersha, N.L.1
Gupta, M.2
Li, W.3
Miller, I.4
Anderson, P.5
-
18
-
-
0034638837
-
Dynamic shuttling of TIA-1 accompanies the recruitment of mRNA to mammalian stress granules
-
Kedersha N, Cho MR, Li W, Yacono PW, Chen S, Gilks N et al. Dynamic shuttling of TIA-1 accompanies the recruitment of mRNA to mammalian stress granules. J Cell Biol 2000; 151: 1257-1268.
-
(2000)
J Cell Biol
, vol.151
, pp. 1257-1268
-
-
Kedersha, N.1
Cho, M.R.2
Li, W.3
Yacono, P.W.4
Chen, S.5
Gilks, N.6
-
19
-
-
63949084607
-
SUnSET, a nonradioactive method to monitor protein synthesis
-
Schmidt EK, Clavarino G, Ceppi M, Pierre P. SUnSET, a nonradioactive method to monitor protein synthesis. Nat Methods 2009; 6: 275-277.
-
(2009)
Nat Methods
, vol.6
, pp. 275-277
-
-
Schmidt, E.K.1
Clavarino, G.2
Ceppi, M.3
Pierre, P.4
-
20
-
-
84860274834
-
Nuclear translation visualized by ribosome-bound nascent chain puromycylation
-
David A, Dolan BP, Hickman HD, Knowlton JJ, Clavarino G, Pierre P et al. Nuclear translation visualized by ribosome-bound nascent chain puromycylation. J Cell Biol 2012; 197: 45-57.
-
(2012)
J Cell Biol
, vol.197
, pp. 45-57
-
-
David, A.1
Dolan, B.P.2
Hickman, H.D.3
Knowlton, J.J.4
Clavarino, G.5
Pierre, P.6
-
21
-
-
51049123438
-
The nuclear transcription factor RARalpha associates with neuronal RNA granules and suppresses translation
-
Chen N, Onisko B, Napoli JL. The nuclear transcription factor RARalpha associates with neuronal RNA granules and suppresses translation. J Biol Chem 2008; 283: 20841-20847.
-
(2008)
J Biol Chem
, vol.283
, pp. 20841-20847
-
-
Chen, N.1
Onisko, B.2
Napoli, J.L.3
-
22
-
-
0034753124
-
Single-stranded nucleic acid-binding protein, Pur alpha, interacts with RNA homologous to 18 S ribosomal RNA and inhibits translation in vitro
-
Gallia GL, Darbinian N, Jaffe N, Khalili K. Single-stranded nucleic acid-binding protein, Pur alpha, interacts with RNA homologous to 18 S ribosomal RNA and inhibits translation in vitro. J Cell Biochem 2001; 83: 355-363.
-
(2001)
J Cell Biochem
, vol.83
, pp. 355-363
-
-
Gallia, G.L.1
Darbinian, N.2
Jaffe, N.3
Khalili, K.4
-
23
-
-
84895822652
-
Therapeutic modulation of eIF2alpha phosphorylation rescues TDP-43 toxicity in amyotrophic lateral sclerosis disease models
-
Kim HJ, Raphael AR, Ladow ES, McGurk L, Weber RA, Trojanowski JQ et al. Therapeutic modulation of eIF2alpha phosphorylation rescues TDP-43 toxicity in amyotrophic lateral sclerosis disease models. Nat Genet 2014; 46: 152-160.
-
(2014)
Nat Genet
, vol.46
, pp. 152-160
-
-
Kim, H.J.1
Raphael, A.R.2
Ladow, E.S.3
McGurk, L.4
Weber, R.A.5
Trojanowski, J.Q.6
-
24
-
-
84875427900
-
Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion
-
Mitchell JC, McGoldrick P, Vance C, Hortobagyi T, Sreedharan J, Rogelj B et al. Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion. Acta Neuropathol 2013; 125: 273-288.
-
(2013)
Acta Neuropathol
, vol.125
, pp. 273-288
-
-
Mitchell, J.C.1
McGoldrick, P.2
Vance, C.3
Hortobagyi, T.4
Sreedharan, J.5
Rogelj, B.6
-
25
-
-
84887510924
-
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis
-
Sabatelli M, Moncada A, Conte A, Lattante S, Marangi G, Luigetti M et al. Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis. Hum Mol Genet 2013; 22: 4748-4755.
-
(2013)
Hum Mol Genet
, vol.22
, pp. 4748-4755
-
-
Sabatelli, M.1
Moncada, A.2
Conte, A.3
Lattante, S.4
Marangi, G.5
Luigetti, M.6
-
26
-
-
84858726202
-
Motor neuron apoptosis and neuromuscular junction perturbation are prominent features in a Drosophila model of Fus-mediated ALS
-
Xia R, Liu Y, Yang L, Gal J, Zhu H, Jia J. Motor neuron apoptosis and neuromuscular junction perturbation are prominent features in a Drosophila model of Fus-mediated ALS. Mol Neurodegener 2012; 7: 10.
-
(2012)
Mol Neurodegener
, vol.7
, pp. 10
-
-
Xia, R.1
Liu, Y.2
Yang, L.3
Gal, J.4
Zhu, H.5
Jia, J.6
-
28
-
-
84865654196
-
Amyotrophic lateral sclerosis: New insights into underlying molecular mechanisms and opportunities for therapeutic intervention
-
Cozzolino M, Pesaresi MG, Gerbino V, Grosskreutz J, Carri MT. Amyotrophic lateral sclerosis: new insights into underlying molecular mechanisms and opportunities for therapeutic intervention. Antioxid Redox Signal 2012; 17: 1277-1330.
-
(2012)
Antioxid Redox Signal
, vol.17
, pp. 1277-1330
-
-
Cozzolino, M.1
Pesaresi, M.G.2
Gerbino, V.3
Grosskreutz, J.4
Carri, M.T.5
-
29
-
-
84877590417
-
Mutants stall spliceosomal snRNPs in the cytoplasm
-
Gerbino V, Carri MT, Cozzolino M, Achsel T, Mislocalised FUS. mutants stall spliceosomal snRNPs in the cytoplasm. Neurobiol Dis 2013; 55: 120-128.
-
(2013)
Neurobiol Dis
, vol.55
, pp. 120-128
-
-
Gerbino, V.1
Carri, M.T.2
Cozzolino, M.3
Achsel, T.4
Mislocalised, F.U.S.5
-
30
-
-
13444279881
-
The Abl/Arg substrate ArgBP2/nArgBP2 coordinates the function of multiple regulatory mechanisms converging on the actin cytoskeleton
-
Cestra G, Toomre D, Chang S, De Camilli P. The Abl/Arg substrate ArgBP2/nArgBP2 coordinates the function of multiple regulatory mechanisms converging on the actin cytoskeleton. Proc Natl Acad Sci USA 2005; 102: 1731-1736.
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 1731-1736
-
-
Cestra, G.1
Toomre, D.2
Chang, S.3
De Camilli, P.4
-
31
-
-
27844570832
-
Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein
-
Chiocchetti A, Gibello L, Carando A, Aspesi A, Secco P, Garelli E et al. Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein. Haematologica 2005; 90: 1453-1462.
-
(2005)
Haematologica
, vol.90
, pp. 1453-1462
-
-
Chiocchetti, A.1
Gibello, L.2
Carando, A.3
Aspesi, A.4
Secco, P.5
Garelli, E.6
-
32
-
-
0032493929
-
Role of phosphorylation in regulation of the assembly of endocytic coat complexes
-
Slepnev VI, Ochoa GC, Butler MH, Grabs D, De Camilli P. Role of phosphorylation in regulation of the assembly of endocytic coat complexes. Science 1998; 281: 821-824.
-
(1998)
Science
, vol.281
, pp. 821-824
-
-
Slepnev, V.I.1
Ochoa, G.C.2
Butler, M.H.3
Grabs, D.4
De Camilli, P.5
-
33
-
-
84860631021
-
Interaction network of the 14-3-3 protein in the ancient protozoan parasite Giardia duodenalis
-
Lalle M, Camerini S, Cecchetti S, Sayadi A, Crescenzi M, Pozio E. Interaction network of the 14-3-3 protein in the ancient protozoan parasite Giardia duodenalis. J Proteome Res 2012; 11: 2666-2683.
-
(2012)
J Proteome Res
, vol.11
, pp. 2666-2683
-
-
Lalle, M.1
Camerini, S.2
Cecchetti, S.3
Sayadi, A.4
Crescenzi, M.5
Pozio, E.6
-
34
-
-
34248652102
-
A protocol for dissecting Drosophila melanogaster brains for live imaging or immunostaining
-
Wu JS, Luo L. A protocol for dissecting Drosophila melanogaster brains for live imaging or immunostaining. Nat Protoc 2006; 1: 2110-2115.
-
(2006)
Nat Protoc
, vol.1
, pp. 2110-2115
-
-
Wu, J.S.1
Luo, L.2
-
35
-
-
77958082207
-
Generation of transgene-free lung disease-specific human induced pluripotent stem cells using a single excisable lentiviral stem cell cassette
-
Somers A, Jean JC, Sommer CA, Omari A, Ford CC, Mills JA et al. Generation of transgene-free lung disease-specific human induced pluripotent stem cells using a single excisable lentiviral stem cell cassette. Stem Cells 2010; 28: 1728-1740.
-
(2010)
Stem Cells
, vol.28
, pp. 1728-1740
-
-
Somers, A.1
Jean, J.C.2
Sommer, C.A.3
Omari, A.4
Ford, C.C.5
Mills, J.A.6
-
36
-
-
0033762448
-
A new positive/negative selectable marker, puDeltatk, for use in embryonic stem cells
-
Chen YT, Bradley A. A new positive/negative selectable marker, puDeltatk, for use in embryonic stem cells. Genesis 2000; 28: 31-35.
-
(2000)
Genesis
, vol.28
, pp. 31-35
-
-
Chen, Y.T.1
Bradley, A.2
|