-
2
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
DeJesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011;72:245-563.
-
(2011)
Neuron
, vol.72
, pp. 245-563
-
-
Dejesus-Hernandez, M.1
Mackenzie, I.R.2
Boeve, B.F.3
-
3
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
Renton AE, Majounie E, Waite A, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011;72:257-684.
-
(2011)
Neuron
, vol.72
, pp. 257-684
-
-
Renton, A.E.1
Majounie, E.2
Waite, A.3
-
4
-
-
84874272095
-
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
-
Ash PE, Bieniek KF, Gendron TF, et al. Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 2013;77:639-465.
-
(2013)
Neuron
, vol.77
, pp. 639-465
-
-
Ash, P.E.1
Bieniek, K.F.2
Gendron, T.F.3
-
5
-
-
84874962380
-
The C9orf72 GGGGCC repeat istranslated into aggregating dipeptide-repeat proteins in FTLD/ALS
-
Mori K, Weng SM, Arzberger T, et al. The C9orf72 GGGGCC repeat istranslated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 2013;339:1335-86.
-
(2013)
Science
, vol.339
, pp. 1335-1386
-
-
Mori, K.1
Weng, S.M.2
Arzberger, T.3
-
6
-
-
0142009656
-
RNA structure of trinucleotide repeats associated with human neurological diseases
-
Sobczak K, de Mezer M, Michlewski G, et al. RNA structure of trinucleotide repeats associated with human neurological diseases. Nucleic Acids Res 2003;31:5469-82
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 5469-5482
-
-
Sobczak, K.1
De Mezer, M.2
Michlewski, G.3
-
7
-
-
0028947317
-
Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues
-
Taneja KL, McCurrach M, Schalling M, et al. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J Cell Biol 1995;128:995-1002
-
(1995)
J Cell Biol
, vol.128
, pp. 995-1002
-
-
Taneja, K.L.1
McCurrach, M.2
Schalling, M.3
-
8
-
-
28044432118
-
The structural basis of myotonic dystrophy from the crystal structure of CUG repeats
-
Mooers BH, Logue JS, Berglund JA. The structural basis of myotonic dystrophy from the crystal structure of CUG repeats. Proc Natl Acad Sci USA 2005;102:16626-31
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 16626-16631
-
-
Mooers, B.H.1
Logue, J.S.2
Berglund, J.A.3
-
9
-
-
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 MP, Jiang H, et al. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell 2002;10:35-44
-
(2002)
Mol Cell
, vol.10
, pp. 35-44
-
-
Mankodi, A.1
Takahashi, M.P.2
Jiang, H.3
-
10
-
-
14044252328
-
MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1
-
Dansithong W, Paul S, Comai L, et al. MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1. J Biol Chem 2005;280:5773-80
-
(2005)
J Biol Chem
, vol.280
, pp. 5773-5780
-
-
Dansithong, W.1
Paul, S.2
Comai, L.3
-
11
-
-
78651105614
-
Non-ATG-initiated translation directed by microsatellite expansions
-
Zu T, Gibbens B, Doty NS, et al. Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci USA 2011;108:260-512.
-
(2011)
Proc Natl Acad Sci USA
, vol.108
, pp. 260-512
-
-
Zu, T.1
Gibbens, B.2
Doty, N.S.3
-
12
-
-
75149196287
-
The mechanism of eukaryotic translation initiation and principles of its regulation
-
Jackson RJ, Hellen CU, Pestova TV. The mechanism of eukaryotic translation initiation and principles of its regulation. Nat Rev Mol Cell Biol 2010;11:113-27
-
(2010)
Nat Rev Mol Cell Biol
, vol.11
, pp. 113-127
-
-
Jackson, R.J.1
Hellen, C.U.2
Pestova, T.V.3
-
13
-
-
84877331220
-
CGG repeat-associated translation mediates neurodegeneration in fragile x tremor ataxia syndrome
-
Todd PK, Oh SY, Krans A, et al. CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome. Neuron 2013;78:440-55
-
(2013)
Neuron
, vol.78
, pp. 440-455
-
-
Todd, P.K.1
Oh, S.Y.2
Krans, A.3
-
14
-
-
84877342215
-
Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration
-
Xu Z, Poidevin M, Li X, et al. Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration. Proc Natl Acad Sci USA 2013;110:7778-83
-
(2013)
Proc Natl Acad Sci USA
, vol.110
, pp. 7778-7783
-
-
Xu, Z.1
Poidevin, M.2
Li, X.3
-
15
-
-
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 SY, et al. 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 2013;288:9860-6
-
(2013)
J Biol Chem
, vol.288
, pp. 9860-9866
-
-
Reddy, K.1
Zamiri, B.2
Stanley, S.Y.3
-
16
-
-
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 IR, et al. 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 2013;125:413-23
-
(2013)
Acta Neuropathol
, vol.125
, pp. 413-423
-
-
Mori, K.1
Lammich, S.2
Mackenzie, I.R.3
-
17
-
-
84875605133
-
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
-
Kim HJ, Kim NC, Wang YD, et al. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature 2013;495:467-73
-
(2013)
Nature
, vol.495
, pp. 467-473
-
-
Kim, H.J.1
Kim, N.C.2
Wang, Y.D.3
-
18
-
-
67650828361
-
Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA
-
Wheeler TM, Sobczak K, Lueck JD, et al. Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA. Science 2009;325:336-9
-
(2009)
Science
, vol.325
, pp. 336-339
-
-
Wheeler, T.M.1
Sobczak, K.2
Lueck, J.D.3
-
19
-
-
84864446995
-
From dynamic combinatorial 'hit' to lead: In vitro and in vivo activity of compounds targeting the pathogenic RNAs that cause myotonic dystrophy
-
Ofori LO, Hoskins J, Nakamori M, et al. From dynamic combinatorial 'hit' to lead: in vitro and in vivo activity of compounds targeting the pathogenic RNAs that cause myotonic dystrophy. Nucleic Acids Res 2012;40:6380-90
-
(2012)
Nucleic Acids Res
, vol.40
, pp. 6380-6390
-
-
Ofori, L.O.1
Hoskins, J.2
Nakamori, M.3
-
20
-
-
84862105985
-
Rationally designed small molecules targeting the RNA that causes myotonic dystrophy type 1 are potently bioactive
-
Childs-Disney JL, Hoskins J, Rzuczek SG, et al. Rationally designed small molecules targeting the RNA that causes myotonic dystrophy type 1 are potently bioactive. ACS Chem Biol 2012;7:856-62
-
(2012)
ACS Chem Biol
, vol.7
, pp. 856-862
-
-
Childs-Disney, J.L.1
Hoskins, J.2
Rzuczek, S.G.3
-
21
-
-
84864439453
-
Targeting nuclear RNA for in vivo correction of myotonic dystrophy
-
Wheeler TM, Leger AJ, Pandey SK, et al. Targeting nuclear RNA for in vivo correction of myotonic dystrophy. Nature 2012;488:111-15
-
(2012)
Nature
, vol.488
, pp. 111-115
-
-
Wheeler, T.M.1
Leger, A.J.2
Pandey, S.K.3
-
22
-
-
84863270094
-
RNase H-mediated degradation of toxic RNA in myotonic dystrophy type 1
-
Lee JE, Bennett CF, Cooper TA. RNase H-mediated degradation of toxic RNA in myotonic dystrophy type 1. Proc Natl Acad Sci USA 2012; 109: 4221-6
-
(2012)
Proc Natl Acad Sci USA
, vol.109
, pp. 4221-4226
-
-
Lee, J.E.1
Bennett, C.F.2
Cooper, T.A.3
-
23
-
-
84873414139
-
RNA interference targeting CUG repeats in a mouse model of myotonic dystrophy
-
Sobczak K, Wheeler TM, Wang W, et al. RNA interference targeting CUG repeats in a mouse model of myotonic dystrophy. Mol Ther 2013;21:380-7
-
(2013)
Mol Ther
, vol.21
, pp. 380-387
-
-
Sobczak, K.1
Wheeler, T.M.2
Wang, W.3
-
24
-
-
84871801926
-
C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
-
Fratta P, Mizielinska S, Nicoll AJ, et al. C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci Rep 2012;2:1016
-
(2012)
Sci Rep
, vol.2
, pp. 1016
-
-
Fratta, P.1
Mizielinska, S.2
Nicoll, A.J.3
-
25
-
-
83555166183
-
A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: A gene identification study
-
Gijselinck I, Van Langenhove T, van der Zee J, et al. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol 2012;11:54-65
-
(2012)
Lancet Neurol
, vol.11
, pp. 54-65
-
-
Gijselinck, I.1
Van Langenhove, T.2
Van Der Zee, J.3
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