-
1
-
-
80052628820
-
Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology
-
Huisman MHB, et al. (2011) Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology. J Neurol Neurosurg Psychiatry 82(10): 1165-1170.
-
(2011)
J Neurol Neurosurg Psychiatry
, vol.82
, Issue.10
, pp. 1165-1170
-
-
Huisman, M.H.B.1
-
2
-
-
84893649256
-
State of play in amyotrophic lateral sclerosis genetics
-
Renton AE, Chiò A, Traynor BJ (2014) State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci 17(1):17-23.
-
(2014)
Nat Neurosci
, vol.17
, Issue.1
, pp. 17-23
-
-
Renton, A.E.1
Chiò, A.2
Traynor, B.J.3
-
3
-
-
78349241067
-
Pathogenic TARDBP mutations in amyotrophic lateral sclerosis and frontotemporal dementia: Disease-associated pathways
-
Barmada SJ, Finkbeiner S (2010) Pathogenic TARDBP mutations in amyotrophic lateral sclerosis and frontotemporal dementia: Disease-associated pathways. Rev Neurosci 21(4):251-272.
-
(2010)
Rev Neurosci
, vol.21
, Issue.4
, pp. 251-272
-
-
Barmada, S.J.1
Finkbeiner, S.2
-
4
-
-
84904729990
-
Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models
-
Barmada SJ, et al. (2014) Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models. Nat Chem Biol 10(8):677-685.
-
(2014)
Nat Chem Biol
, vol.10
, Issue.8
, pp. 677-685
-
-
Barmada, S.J.1
-
5
-
-
84859569070
-
Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability
-
Bilican B, et al. (2012) Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability. Proc Natl Acad Sci USA 109(15):5803-5808.
-
(2012)
Proc Natl Acad Sci USA
, vol.109
, Issue.15
, pp. 5803-5808
-
-
Bilican, B.1
-
6
-
-
74949135753
-
Cytoplasmic mislocalization of TDP-43 is toxic to neurons and enhanced by a mutation associated with familial amyotrophic lateral sclerosis
-
Barmada SJ, et al. (2010) Cytoplasmic mislocalization of TDP-43 is toxic to neurons and enhanced by a mutation associated with familial amyotrophic lateral sclerosis. J Neurosci 30(2):639-649.
-
(2010)
J Neurosci
, vol.30
, Issue.2
, pp. 639-649
-
-
Barmada, S.J.1
-
7
-
-
84923333393
-
Allele-specific knockdown of ALS-associated mutant TDP-43 in neural stem cells derived from induced pluripotent stem cells
-
Nishimura AL, et al. (2014) Allele-specific knockdown of ALS-associated mutant TDP-43 in neural stem cells derived from induced pluripotent stem cells. PLoS ONE 9(3):e91269.
-
(2014)
PLoS ONE
, vol.9
, Issue.3
-
-
Nishimura, A.L.1
-
8
-
-
33749632259
-
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
Neumann M, et al. (2006) Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314(5796):130-133.
-
(2006)
Science
, vol.314
, Issue.5796
, pp. 130-133
-
-
Neumann, M.1
-
9
-
-
77649269011
-
TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration
-
Wils H, et al. (2010) TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration. Proc Natl Acad Sci USA 107(8):3858-3863.
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, Issue.8
, pp. 3858-3863
-
-
Wils, H.1
-
10
-
-
78650903887
-
Expansive gene transfer in the rat CNS rapidly produces amyotrophic lateral sclerosis relevant sequelae when TDP-43 is overexpressed
-
Wang DB, et al. (2010) Expansive gene transfer in the rat CNS rapidly produces amyotrophic lateral sclerosis relevant sequelae when TDP-43 is overexpressed. Mol Ther 18(12):2064-2074.
-
(2010)
Mol Ther
, vol.18
, Issue.12
, pp. 2064-2074
-
-
Wang, D.B.1
-
11
-
-
61349162349
-
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
-
Vance C, et al. (2009) Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323(5918):1208-1211.
-
(2009)
Science
, vol.323
, Issue.5918
, pp. 1208-1211
-
-
Vance, C.1
-
12
-
-
61349156118
-
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
-
Kwiatkowski TJ, Jr, et al. (2009) Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323(5918):1205-1208.
-
(2009)
Science
, vol.323
, Issue.5918
, pp. 1205-1208
-
-
Kwiatkowski, T.J.1
-
13
-
-
70350673956
-
A new subtype of frontotemporal lobar degeneration with FUS pathology
-
Neumann M, et al. (2009) A new subtype of frontotemporal lobar degeneration with FUS pathology. Brain 132(Pt 11):2922-2931.
-
(2009)
Brain
, vol.132
, Issue.11
, pp. 2922-2931
-
-
Neumann, M.1
-
14
-
-
84868152371
-
Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs
-
Lagier-Tourenne C, et al. (2012) Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs. Nat Neurosci 15(11):1488-1497.
-
(2012)
Nat Neurosci
, vol.15
, Issue.11
, pp. 1488-1497
-
-
Lagier-Tourenne, C.1
-
15
-
-
78751616191
-
TDP-43 regulates its mRNA levels through a negative feedback loop
-
Ayala YM, et al. (2011) TDP-43 regulates its mRNA levels through a negative feedback loop. EMBO J 30(2):277-288.
-
(2011)
EMBO J
, vol.30
, Issue.2
, pp. 277-288
-
-
Ayala, Y.M.1
-
16
-
-
79953185674
-
Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43
-
Polymenidou M, et al. (2011) Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43. Nat Neurosci 14(4):459-468.
-
(2011)
Nat Neurosci
, vol.14
, Issue.4
, pp. 459-468
-
-
Polymenidou, M.1
-
17
-
-
84888617099
-
Organizing principles of mammalian nonsense-mediated mRNA decay
-
Popp MW-L, Maquat LE (2013) Organizing principles of mammalian nonsense-mediated mRNA decay. Annu Rev Genet 47:139-165.
-
(2013)
Annu Rev Genet
, vol.47
, pp. 139-165
-
-
Popp, M.W.-L.1
Maquat, L.E.2
-
18
-
-
84887271147
-
ALS-associated FUS mutations result in compromised FUS alternative splicing and autoregulation
-
Zhou Y, Liu S, Liu G, Oztürk A, Hicks GG (2013) ALS-associated FUS mutations result in compromised FUS alternative splicing and autoregulation. PLoS Genet 9(10):e1003895.
-
(2013)
PLoS Genet
, vol.9
, Issue.10
-
-
Zhou, Y.1
Liu, S.2
Liu, G.3
Oztürk, A.4
Hicks, G.G.5
-
19
-
-
79955495201
-
A yeast model of FUS/TLS-dependent cytotoxicity
-
Ju S, et al. (2011) A yeast model of FUS/TLS-dependent cytotoxicity. PLoS Biol 9(4):e1001052.
-
(2011)
PLoS Biol
, vol.9
, Issue.4
-
-
Ju, S.1
-
20
-
-
7244236320
-
Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death
-
Arrasate M, Mitra S, Schweitzer ES, Segal MR, Finkbeiner S (2004) Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death. Nature 431(7010):805-810.
-
(2004)
Nature
, vol.431
, Issue.7010
, pp. 805-810
-
-
Arrasate, M.1
Mitra, S.2
Schweitzer, E.S.3
Segal, M.R.4
Finkbeiner, S.5
-
21
-
-
14844359962
-
Automated microscope system for determining factors that predict neuronal fate
-
Arrasate M, Finkbeiner S (2005) Automated microscope system for determining factors that predict neuronal fate. Proc Natl Acad Sci USA 102(10):3840-3845.
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, Issue.10
, pp. 3840-3845
-
-
Arrasate, M.1
Finkbeiner, S.2
-
22
-
-
41949113083
-
Upf1 phosphorylation triggers translational repression during nonsense-mediated mRNA decay
-
Isken O, et al. (2008) Upf1 phosphorylation triggers translational repression during nonsense-mediated mRNA decay. Cell 133(2):314-327.
-
(2008)
Cell
, vol.133
, Issue.2
, pp. 314-327
-
-
Isken, O.1
-
23
-
-
84876058100
-
Longitudinal measures of proteostasis in live neurons: Features that determine fate in models of neurodegenerative disease
-
Skibinski G, Finkbeiner S (2013) Longitudinal measures of proteostasis in live neurons: Features that determine fate in models of neurodegenerative disease. FEBS Lett 587(8):1139-1146.
-
(2013)
FEBS Lett
, vol.587
, Issue.8
, pp. 1139-1146
-
-
Skibinski, G.1
Finkbeiner, S.2
-
24
-
-
77955359169
-
Quantitative relationships between huntingtin levels, polyglutamine length, inclusion body formation, and neuronal death provide novel insight into huntington's disease molecular pathogenesis
-
Miller J, et al. (2010) Quantitative relationships between huntingtin levels, polyglutamine length, inclusion body formation, and neuronal death provide novel insight into huntington's disease molecular pathogenesis. J Neurosci 30(31):10541-10550.
-
(2010)
J Neurosci
, vol.30
, Issue.31
, pp. 10541-10550
-
-
Miller, J.1
-
25
-
-
77949878273
-
TDP-43 is a developmentally regulated protein essential for early embryonic development
-
Sephton CF, et al. (2010) TDP-43 is a developmentally regulated protein essential for early embryonic development. J Biol Chem 285(9):6826-6834.
-
(2010)
J Biol Chem
, vol.285
, Issue.9
, pp. 6826-6834
-
-
Sephton, C.F.1
-
26
-
-
84896914639
-
Partial loss of TDP-43 function causes phenotypes of amyotrophic lateral sclerosis
-
Yang C, et al. (2014) Partial loss of TDP-43 function causes phenotypes of amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 111(12):E1121-E1129.
-
(2014)
Proc Natl Acad Sci USA
, vol.111
, Issue.12
, pp. E1121-E1129
-
-
Yang, C.1
-
27
-
-
59649086176
-
Molecular neuropathology of TDP-43 proteinopathies
-
Neumann M (2009) Molecular neuropathology of TDP-43 proteinopathies. Int J Mol Sci 10(1):232-246.
-
(2009)
Int J Mol Sci
, vol.10
, Issue.1
, pp. 232-246
-
-
Neumann, M.1
-
28
-
-
79551523377
-
Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice
-
Igaz LM, et al. (2011) Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice. J Clin Invest 121(2):726-738.
-
(2011)
J Clin Invest
, vol.121
, Issue.2
, pp. 726-738
-
-
Igaz, L.M.1
-
30
-
-
33846186825
-
Structural and functional insights into the human Upf1 helicase core
-
Cheng Z, Muhlrad D, Lim MK, Parker R, Song H (2007) Structural and functional insights into the human Upf1 helicase core. EMBO J 26(1):253-264.
-
(2007)
EMBO J
, vol.26
, Issue.1
, pp. 253-264
-
-
Cheng, Z.1
Muhlrad, D.2
Lim, M.K.3
Parker, R.4
Song, H.5
-
31
-
-
34547625136
-
Inhibition of nonsense-mediated mRNA decay (NMD) by a new chemical molecule reveals the dynamic of NMD factors in P-bodies
-
Durand S, et al. (2007) Inhibition of nonsense-mediated mRNA decay (NMD) by a new chemical molecule reveals the dynamic of NMD factors in P-bodies. J Cell Biol 178(7): 1145-1160.
-
(2007)
J Cell Biol
, vol.178
, Issue.7
, pp. 1145-1160
-
-
Durand, S.1
-
32
-
-
79952686670
-
Molecular mechanisms for the RNA-dependent ATPase activity of Upf1 and its regulation by Upf2
-
Chakrabarti S, et al. (2011) Molecular mechanisms for the RNA-dependent ATPase activity of Upf1 and its regulation by Upf2. Mol Cell 41(6):693-703.
-
(2011)
Mol Cell
, vol.41
, Issue.6
, pp. 693-703
-
-
Chakrabarti, S.1
-
33
-
-
78649949096
-
Upf1 ATPase-dependent mRNP disassembly is required for completion of nonsense-mediated mRNA decay
-
Franks TM, Singh G, Lykke-Andersen J (2010) Upf1 ATPase-dependent mRNP disassembly is required for completion of nonsense-mediated mRNA decay. Cell 143(6):938-950.
-
(2010)
Cell
, vol.143
, Issue.6
, pp. 938-950
-
-
Franks, T.M.1
Singh, G.2
Lykke-Andersen, J.3
-
34
-
-
0032544062
-
A mutated human homologue to yeast Upf1 protein has a dominant-negative effect on the decay of nonsense-containing mRNAs in mammalian cells
-
Sun X, Perlick HA, Dietz HC, Maquat LE (1998) A mutated human homologue to yeast Upf1 protein has a dominant-negative effect on the decay of nonsense-containing mRNAs in mammalian cells. Proc Natl Acad Sci USA 95(17):10009-10014.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, Issue.17
, pp. 10009-10014
-
-
Sun, X.1
Perlick, H.A.2
Dietz, H.C.3
Maquat, L.E.4
-
35
-
-
79953743204
-
FUS transgenic rats develop the phenotypes of amyotrophic lateral sclerosis and frontotemporal lobar degeneration
-
Huang C, et al. (2011) FUS transgenic rats develop the phenotypes of amyotrophic lateral sclerosis and frontotemporal lobar degeneration. PLoS Genet 7(3):e1002011.
-
(2011)
PLoS Genet
, vol.7
, Issue.3
-
-
Huang, C.1
-
36
-
-
84880919532
-
Overexpression of ALS-associated p.M337V human TDP-43 in mice worsens disease features compared to wild-type human TDP-43 mice
-
Janssens J, et al. (2013) Overexpression of ALS-associated p.M337V human TDP-43 in mice worsens disease features compared to wild-type human TDP-43 mice. Mol Neurobiol 48(1):22-35.
-
(2013)
Mol Neurobiol
, vol.48
, Issue.1
, pp. 22-35
-
-
Janssens, J.1
-
37
-
-
84896799718
-
ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects
-
Qiu H, et al. (2014) ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects. J Clin Invest 124(3):981-999.
-
(2014)
J Clin Invest
, vol.124
, Issue.3
, pp. 981-999
-
-
Qiu, H.1
-
38
-
-
0035862813
-
Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability
-
Medghalchi SM, et al. (2001) Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability. Hum Mol Genet 10(2):99-105.
-
(2001)
Hum Mol Genet
, vol.10
, Issue.2
, pp. 99-105
-
-
Medghalchi, S.M.1
-
39
-
-
2442658908
-
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
-
Chen Y-Z, et al. (2004) DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 74(6):1128-1135.
-
(2004)
Am J Hum Genet
, vol.74
, Issue.6
, pp. 1128-1135
-
-
Chen, Y.-Z.1
-
40
-
-
84873156875
-
The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1
-
Lim SC, Bowler MW, Lai TF, Song H (2012) The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1. Nucleic Acids Res 40(21):11009-11022.
-
(2012)
Nucleic Acids Res
, vol.40
, Issue.21
, pp. 11009-11022
-
-
Lim, S.C.1
Bowler, M.W.2
Lai, T.F.3
Song, H.4
-
41
-
-
66149083625
-
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery
-
de Planell-Saguer M, Schroeder DG, Rodicio MC, Cox GA, Mourelatos Z (2009) Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery. Hum Mol Genet 18(12):2115-2126.
-
(2009)
Hum Mol Genet
, vol.18
, Issue.12
, pp. 2115-2126
-
-
De Planell-Saguer, M.1
Schroeder, D.G.2
Rodicio, M.C.3
Cox, G.A.4
Mourelatos, Z.5
-
42
-
-
0030860931
-
Association of the mammalian helicase MAH with the premRNA splicing complex
-
Molnar GM, et al. (1997) Association of the mammalian helicase MAH with the premRNA splicing complex. Proc Natl Acad Sci USA 94(15):7831-7836.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, Issue.15
, pp. 7831-7836
-
-
Molnar, G.M.1
-
43
-
-
84871861757
-
Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the DNA damage response
-
Yüce Ö, West SC (2013) Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the DNA damage response. Mol Cell Biol 33(2):406-417.
-
(2013)
Mol Cell Biol
, vol.33
, Issue.2
, pp. 406-417
-
-
Yüce, Ö.1
West, S.C.2
-
44
-
-
84886871585
-
Mov10 and APOBEC3G localization to processing bodies is not required for virion incorporation and antiviral activity
-
Izumi T, et al. (2013) Mov10 and APOBEC3G localization to processing bodies is not required for virion incorporation and antiviral activity. J Virol 87(20):11047-11062.
-
(2013)
J Virol
, vol.87
, Issue.20
, pp. 11047-11062
-
-
Izumi, T.1
-
45
-
-
84901240387
-
MOV10 Is a 5′ to 3′ RNA helicase contributing to UPF1 mRNA target degradation by translocation along 3′ UTRs
-
Gregersen LH, et al. (2014) MOV10 Is a 5′ to 3′ RNA helicase contributing to UPF1 mRNA target degradation by translocation along 3′ UTRs. Mol Cell 54(4):573-585.
-
(2014)
Mol Cell
, vol.54
, Issue.4
, pp. 573-585
-
-
Gregersen, L.H.1
-
46
-
-
42249102078
-
Transgenics, toxicity and therapeutics in rodent models of mutant SOD1-mediated familial ALS
-
Turner BJ, Talbot K (2008) Transgenics, toxicity and therapeutics in rodent models of mutant SOD1-mediated familial ALS. Prog Neurobiol 85(1):94-134.
-
(2008)
Prog Neurobiol
, vol.85
, Issue.1
, pp. 94-134
-
-
Turner, B.J.1
Talbot, K.2
-
47
-
-
84920541142
-
Preservation of forelimb function by UPF1 gene therapy in a rat model of TDP-43-induced motor paralysis
-
Jackson KL, et al. (2015) Preservation of forelimb function by UPF1 gene therapy in a rat model of TDP-43-induced motor paralysis. Gene Ther 22(1):20-28.
-
(2015)
Gene Ther
, vol.22
, Issue.1
, pp. 20-28
-
-
Jackson, K.L.1
-
48
-
-
5744242172
-
Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1)
-
Grohmann K, et al. (2004) Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1). Hum Mol Genet 13(18):2031-2042.
-
(2004)
Hum Mol Genet
, vol.13
, Issue.18
, pp. 2031-2042
-
-
Grohmann, K.1
|