-
1
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
Renton, A. E. et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72, 257-268 (2011).
-
(2011)
Neuron
, vol.72
, pp. 257-268
-
-
Renton, A.E.1
-
2
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
DeJesus-Hernandez, M. et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72, 245-256 (2011).
-
(2011)
Neuron
, vol.72
, pp. 245-256
-
-
DeJesus-Hernandez, M.1
-
3
-
-
84881490873
-
Converging mechanisms in ALS and FTD: Disrupted RNA and protein homeostasis
-
Ling, S. C., Polymenidou, M. & Cleveland, D. W. Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis. Neuron 79, 416-438 (2013).
-
(2013)
Neuron
, vol.79
, pp. 416-438
-
-
Ling, S.C.1
Polymenidou, M.2
Cleveland, D.W.3
-
4
-
-
84874962380
-
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS
-
Mori, K. et al. The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 339, 1335-1338 (2013).
-
(2013)
Science
, vol.339
, pp. 1335-1338
-
-
Mori, K.1
-
5
-
-
84890837640
-
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
-
Zu, T. et al. RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proceedings of the National Academy of Sciences of the United States of America 110, E4968-4977 (2013).
-
(2013)
Proceedings of the National Academy of Sciences of the United States of America
, vol.110
, pp. E4968-4977
-
-
Zu, T.1
-
6
-
-
84874272095
-
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
-
Ash, P. E. et al. Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 77, 639-646 (2013).
-
(2013)
Neuron
, vol.77
, pp. 639-646
-
-
Ash, P.E.1
-
7
-
-
84907221451
-
Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells
-
Kwon, I. et al. Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells. Science 345, 1139-1145 (2014).
-
(2014)
Science
, vol.345
, pp. 1139-1145
-
-
Kwon, I.1
-
8
-
-
84907188956
-
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins
-
Mizielinska, S. et al. C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins. Science 345, 1192-1194 (2014).
-
(2014)
Science
, vol.345
, pp. 1192-1194
-
-
Mizielinska, S.1
-
9
-
-
84926357619
-
Antisense Proline-Arginine RAN Dipeptides Linked to C9ORF72-ALS/FTD Form Toxic Nuclear Aggregates that Initiate in Vitro and in Vivo Neuronal Death
-
Wen, X. et al. Antisense Proline-Arginine RAN Dipeptides Linked to C9ORF72-ALS/FTD Form Toxic Nuclear Aggregates that Initiate In Vitro and In Vivo Neuronal Death. Neuron 84, 1213-1225 (2014).
-
(2014)
Neuron
, vol.84
, pp. 1213-1225
-
-
Wen, X.1
-
10
-
-
84942122433
-
Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS
-
Tran, H. et al. Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS. Neuron 87, 1207-1214 (2015).
-
(2015)
Neuron
, vol.87
, pp. 1207-1214
-
-
Tran, H.1
-
11
-
-
84940426318
-
Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS
-
Jovicic, A. et al. Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS. Nat Neurosci 18, 1226-+ (2015).
-
(2015)
Nat Neurosci
, vol.18
-
-
Jovicic, A.1
-
12
-
-
84900852084
-
Fifty years of nuclear pores and nucleocytoplasmic transport studies: Multiple tools revealing complex rules
-
Floch, A. G., Palancade, B. & Doye, V. Fifty years of nuclear pores and nucleocytoplasmic transport studies: multiple tools revealing complex rules. Methods in cell biology 122, 1-40 (2014).
-
(2014)
Methods in Cell Biology
, vol.122
, pp. 1-40
-
-
Floch, A.G.1
Palancade, B.2
Doye, V.3
-
13
-
-
84869237956
-
Arginine methylation next to the PY-NLS modulates Transportin binding and nuclear import of FUS
-
Dormann, D. et al. Arginine methylation next to the PY-NLS modulates Transportin binding and nuclear import of FUS. The EMBO journal 31, 4258-4275 (2012).
-
(2012)
The EMBO Journal
, vol.31
, pp. 4258-4275
-
-
Dormann, D.1
-
14
-
-
84871019907
-
Transportin 1 accumulates specifically with FET proteins but no other transportin cargos in FTLD-FUS and is absent in FUS inclusions in ALS with FUS mutations
-
Neumann, M. et al. Transportin 1 accumulates specifically with FET proteins but no other transportin cargos in FTLD-FUS and is absent in FUS inclusions in ALS with FUS mutations. Acta Neuropathologica 124, 705-716 (2012).
-
(2012)
Acta Neuropathologica
, vol.124
, pp. 705-716
-
-
Neumann, M.1
-
15
-
-
77955792022
-
ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import
-
Dormann, D. et al. ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import. The EMBO journal 29, 2841-2857 (2010).
-
(2010)
The EMBO Journal
, vol.29
, pp. 2841-2857
-
-
Dormann, D.1
-
16
-
-
84876437828
-
Protein arginine methyltransferase 1 and 8 interact with FUS to modify its sub-cellular distribution and toxicity in vitro and in vivo
-
Scaramuzzino, C. et al. Protein arginine methyltransferase 1 and 8 interact with FUS to modify its sub-cellular distribution and toxicity in vitro and in vivo. PloS one 8, e61576, doi: 10.1371/journal.pone.0061576 (2013).
-
(2013)
PloS One
, vol.8
, pp. e61576
-
-
Scaramuzzino, C.1
-
17
-
-
33749632259
-
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
Neumann, M. et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314, 130-133 (2006).
-
(2006)
Science
, vol.314
, pp. 130-133
-
-
Neumann, M.1
-
18
-
-
84892611020
-
Dipeptide repeat protein pathology in C9ORF72 mutation cases: Clinico-pathological correlations
-
Mackenzie, I. R. et al. Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations. Acta neuropathologica 126, 859-879 (2013).
-
(2013)
Acta Neuropathologica
, vol.126
, pp. 859-879
-
-
Mackenzie, I.R.1
-
19
-
-
85005915306
-
Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72
-
Mann, D. M. et al. Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72. Acta Neuropathol Commun 1, 68, doi: 10.1186/2051-5960-1-68 (2013).
-
(2013)
Acta Neuropathol Commun
, vol.1
, pp. 68
-
-
Mann, D.M.1
-
20
-
-
84870994113
-
Co-aggregation of RNA binding proteins in ALS spinal motor neurons: Evidence of a common pathogenic mechanism
-
Keller, B. A. et al. Co-aggregation of RNA binding proteins in ALS spinal motor neurons: evidence of a common pathogenic mechanism. Acta Neuropathologica 124, 733-747 (2012).
-
(2012)
Acta Neuropathologica
, vol.124
, pp. 733-747
-
-
Keller, B.A.1
-
21
-
-
84949104989
-
Accumulation of dipeptide repeat proteins predates that of TDP-43 in Frontotemporal Lobar Degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene
-
Baborie, A. et al. Accumulation of dipeptide repeat proteins predates that of TDP-43 in Frontotemporal Lobar Degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene. Neuropathol Appl Neurobiol 41(5), 601-12, doi: 10.1111/nan.12178 (2014).
-
(2014)
Neuropathol Appl Neurobiol
, vol.41
, Issue.5
, pp. 601-612
-
-
Baborie, A.1
-
22
-
-
84896723405
-
Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability
-
Proudfoot, M. et al. Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability. Acta neuropathologica 127, 451-458 (2014).
-
(2014)
Acta Neuropathologica
, vol.127
, pp. 451-458
-
-
Proudfoot, M.1
-
23
-
-
84942369240
-
Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis
-
Xiao, S. et al. Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis. Ann Neurol 78, 568-583 (2015).
-
(2015)
Ann Neurol
, vol.78
, pp. 568-583
-
-
Xiao, S.1
-
24
-
-
84940925534
-
GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport
-
Freibaum, B. D. et al. GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport. Nature 525, 129-+ (2015).
-
(2015)
Nature
, vol.525
-
-
Freibaum, B.D.1
-
25
-
-
84940923271
-
The C9orf72 repeat expansion disrupts nucleocytoplasmic transport
-
Zhang, K. et al. The C9orf72 repeat expansion disrupts nucleocytoplasmic transport. Nature 525, 56-+ (2015).
-
(2015)
Nature
, vol.525
-
-
Zhang, K.1
-
26
-
-
84907188956
-
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins
-
Mizielinska, S. et al. C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins. Science 345, 1192-1194 (2014).
-
(2014)
Science
, vol.345
, pp. 1192-1194
-
-
Mizielinska, S.1
-
27
-
-
0042121256
-
Mfold web server for nucleic acid folding and hybridization prediction
-
Zuker, M. Mfold web server for nucleic acid folding and hybridization prediction. Nucleic Acids Research 31, 3406-3415 (2003).
-
(2003)
Nucleic Acids Research
, vol.31
, pp. 3406-3415
-
-
Zuker, M.1
-
28
-
-
0345168202
-
Spatiotemporal rescue of memory dysfunction in Drosophila
-
McGuire, S. E., Le, P. T., Osborn, A. J., Matsumoto, K. & Davis, R. L. Spatiotemporal rescue of memory dysfunction in Drosophila. Science 302, 1765-1768 (2003).
-
(2003)
Science
, vol.302
, pp. 1765-1768
-
-
McGuire, S.E.1
Le, P.T.2
Osborn, A.J.3
Matsumoto, K.4
Davis, R.L.5
-
30
-
-
0037093644
-
Increasing the precision of comparative models with YASARA NOVA-A selfparameterizing force field
-
Krieger, E., Koraimann, G. & Vriend, G. Increasing the precision of comparative models with YASARA NOVA-a selfparameterizing force field. Proteins-Structure Function and Genetics 47, 393-402 (2002).
-
(2002)
Proteins-Structure Function and Genetics
, vol.47
, pp. 393-402
-
-
Krieger, E.1
Koraimann, G.2
Vriend, G.3
|