-
1
-
-
82355180826
-
P62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS
-
Al-Sarraj S., King A., Troakes C., Smith B., Maekawa S., Bodi I., Rogelj B., Al-Chalabi A., Hortobágyi T., Shaw C.E. p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS. Acta Neuropathol. 2011, 122:691-702.
-
(2011)
Acta Neuropathol.
, vol.122
, pp. 691-702
-
-
Al-Sarraj, S.1
King, A.2
Troakes, C.3
Smith, B.4
Maekawa, S.5
Bodi, I.6
Rogelj, B.7
Al-Chalabi, A.8
Hortobágyi, T.9
Shaw, C.E.10
-
2
-
-
84874272095
-
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
-
Ash P.E.A., Bieniek K.F., Gendron T.F., Caulfield T., Lin W.-L., Dejesus-Hernandez M., van Blitterswijk M.M., Jansen-West K., Paul J.W., Rademakers R., Boylan K.B., Dickson D.W., Petrucelli L. Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 2013, 77:639-646.
-
(2013)
Neuron
, vol.77
, pp. 639-646
-
-
Ash, P.E.A.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, J.W.9
Rademakers, R.10
Boylan, K.B.11
Dickson, D.W.12
Petrucelli, L.13
-
3
-
-
84876411369
-
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population
-
Beck J., Poulter M., Hensman D., Rohrer J.D., Mahoney C.J., Adamson G., Campbell T., Uphill J., Borg A., Fratta P., Orrell R.W., Malaspina A., Rowe J., Brown J., Hodges J., Sidle K., Polke J.M., Houlden H., Schott J.M., Fox N.C., Rossor M.N., Tabrizi S.J., Isaacs A.M., Hardy J., Warren J.D., Collinge J., Mead S. Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am. J. Hum. Genet. 2013, 92:345-353.
-
(2013)
Am. J. Hum. Genet.
, vol.92
, pp. 345-353
-
-
Beck, J.1
Poulter, M.2
Hensman, D.3
Rohrer, J.D.4
Mahoney, C.J.5
Adamson, G.6
Campbell, T.7
Uphill, J.8
Borg, A.9
Fratta, P.10
Orrell, R.W.11
Malaspina, A.12
Rowe, J.13
Brown, J.14
Hodges, J.15
Sidle, K.16
Polke, J.M.17
Houlden, H.18
Schott, J.M.19
Fox, N.C.20
Rossor, M.N.21
Tabrizi, S.J.22
Isaacs, A.M.23
Hardy, J.24
Warren, J.D.25
Collinge, J.26
Mead, S.27
more..
-
4
-
-
84890958553
-
Visualization and selective chemical targeting of RNA G-quadruplex structures in the cytoplasm of human cells
-
Biffi G., Di Antonio M., Tannahill D., Balasubramanian S. Visualization and selective chemical targeting of RNA G-quadruplex structures in the cytoplasm of human cells. Nat. Chem. 2014, 6:75-80.
-
(2014)
Nat. Chem.
, vol.6
, pp. 75-80
-
-
Biffi, G.1
Di Antonio, M.2
Tannahill, D.3
Balasubramanian, S.4
-
5
-
-
84875464903
-
Quantitative visualization of DNA G-quadruplex structures in human cells
-
Biffi G., Tannahill D., McCafferty J., Balasubramanian S. Quantitative visualization of DNA G-quadruplex structures in human cells. Nat. Chem. 2013, 5:182-186.
-
(2013)
Nat. Chem.
, vol.5
, pp. 182-186
-
-
Biffi, G.1
Tannahill, D.2
McCafferty, J.3
Balasubramanian, S.4
-
6
-
-
84890688724
-
Biophysical characterization of G-quadruplex forming FMR1 mRNA and of its interactions with different fragile X mental retardation protein isoforms
-
Blice-Baum A.C., Mihailescu M.-R. Biophysical characterization of G-quadruplex forming FMR1 mRNA and of its interactions with different fragile X mental retardation protein isoforms. RNA 2014, 20:103-114.
-
(2014)
RNA
, vol.20
, pp. 103-114
-
-
Blice-Baum, A.C.1
Mihailescu, M.-R.2
-
7
-
-
84867744921
-
DNA secondary structures: stability and function of G-quadruplex structures
-
Bochman M.L., Paeschke K., Zakian V.A. DNA secondary structures: stability and function of G-quadruplex structures. Nat. Rev. Genet. 2012, 13:770-780.
-
(2012)
Nat. Rev. Genet.
, vol.13
, pp. 770-780
-
-
Bochman, M.L.1
Paeschke, K.2
Zakian, V.A.3
-
8
-
-
84861367008
-
The RNA helicase RHAU (DHX36) unwinds a G4-quadruplex in human telomerase RNA and promotes the formation of the P1 helix template boundary
-
Booy E.P., Meier M., Okun N., Novakowski S.K., Xiong S., Stetefeld J., McKenna S.A. The RNA helicase RHAU (DHX36) unwinds a G4-quadruplex in human telomerase RNA and promotes the formation of the P1 helix template boundary. Nucleic Acids Res. 2012, 40:4110-4124.
-
(2012)
Nucleic Acids Res.
, vol.40
, pp. 4110-4124
-
-
Booy, E.P.1
Meier, M.2
Okun, N.3
Novakowski, S.K.4
Xiong, S.5
Stetefeld, J.6
McKenna, S.A.7
-
9
-
-
84875840045
-
Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation
-
Buchman V.L., Cooper-Knock J., Connor-Robson N., Higginbottom A., Kirby J., Razinskaya O.D., Ninkina N., Shaw P.J. Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation. Mol. Neurodegener. 2013, 8:12.
-
(2013)
Mol. Neurodegener.
, vol.8
, pp. 12
-
-
Buchman, V.L.1
Cooper-Knock, J.2
Connor-Robson, N.3
Higginbottom, A.4
Kirby, J.5
Razinskaya, O.D.6
Ninkina, N.7
Shaw, P.J.8
-
11
-
-
84899847533
-
Anew pathway of DNA g-quadruplex formation
-
Ceru S., Sket P., Prislan I., Lah J., Plavec J. Anew pathway of DNA g-quadruplex formation. Angew. Chem. Int. Ed. Engl. 2014, 53:4881-4884.
-
(2014)
Angew. Chem. Int. Ed. Engl.
, vol.53
, pp. 4881-4884
-
-
Ceru, S.1
Sket, P.2
Prislan, I.3
Lah, J.4
Plavec, J.5
-
12
-
-
84884782975
-
Repeat-associated non-ATG (RAN) translation in neurological disease
-
Cleary J.D., Ranum L.P.W. Repeat-associated non-ATG (RAN) translation in neurological disease. Hum. Mol. Genet. 2013, 22:R45-R51.
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. R45-R51
-
-
Cleary, J.D.1
Ranum, L.P.W.2
-
13
-
-
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., Kouri N., Wojtas A., Sengdy P., Hsiung G.-Y.R., Karydas A., Seeley W.W., Josephs K.A., Coppola G., Geschwind D.H., Wszolek Z.K., Feldman H., Knopman D.S., Petersen R.C., Miller B.L., Dickson D.W., Boylan K.B., Graff-Radford N.R., Rademakers R. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011, 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
Kouri, N.11
Wojtas, A.12
Sengdy, P.13
Hsiung, G.-Y.R.14
Karydas, A.15
Seeley, W.W.16
Josephs, K.A.17
Coppola, G.18
Geschwind, D.H.19
Wszolek, Z.K.20
Feldman, H.21
Knopman, D.S.22
Petersen, R.C.23
Miller, B.L.24
Dickson, D.W.25
Boylan, K.B.26
Graff-Radford, N.R.27
Rademakers, R.28
more..
-
14
-
-
84892451456
-
Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia
-
Dols-Icardo O., Garcia-Redondo A., Rojas-Garcia R., Sanchez-Valle R., Noguera A., Gomez-Tortosa E., Pastor P., Hernandez I., Esteban-Perez J., Suarez-Calvet M., Anton-Aguirre S., Amer G., Ortega-Cubero S., Blesa R., Fortea J., Alcolea D., Capdevila A., Antonell A., Llado A., Munoz-Blanco J.L., Mora J.S., Galan-Davila L., Rodriguez De Rivera F.J., Lleo A., Clarimon J. Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia. Hum. Mol. Genet. 2014, 23:749-754.
-
(2014)
Hum. Mol. Genet.
, vol.23
, pp. 749-754
-
-
Dols-Icardo, O.1
Garcia-Redondo, A.2
Rojas-Garcia, R.3
Sanchez-Valle, R.4
Noguera, A.5
Gomez-Tortosa, E.6
Pastor, P.7
Hernandez, I.8
Esteban-Perez, J.9
Suarez-Calvet, M.10
Anton-Aguirre, S.11
Amer, G.12
Ortega-Cubero, S.13
Blesa, R.14
Fortea, J.15
Alcolea, D.16
Capdevila, A.17
Antonell, A.18
Llado, A.19
Munoz-Blanco, J.L.20
Mora, J.S.21
Galan-Davila, L.22
Rodriguez De Rivera, F.J.23
Lleo, A.24
Clarimon, J.25
more..
-
15
-
-
84901038797
-
C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking
-
Farg M.A., Sundaramoorthy V., Sultana J.M., Yang S., Atkinson R.A.K., Levina V., Halloran M.A., Gleeson P.A., Blair I.P., Soo K.Y., King A.E., Atkin J.D. C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking. Hum. Mol. Genet. 2014, 23:3579-3595.
-
(2014)
Hum. Mol. Genet.
, vol.23
, pp. 3579-3595
-
-
Farg, M.A.1
Sundaramoorthy, V.2
Sultana, J.M.3
Yang, S.4
Atkinson, R.A.K.5
Levina, V.6
Halloran, M.A.7
Gleeson, P.A.8
Blair, I.P.9
Soo, K.Y.10
King, A.E.11
Atkin, J.D.12
-
16
-
-
84860518297
-
AG-rich element forms a G-quadruplex and regulates BACE1 mRNA alternative splicing
-
Fisette J.-F., Montagna D.R., Mihailescu M.-R., Wolfe M.S. AG-rich element forms a G-quadruplex and regulates BACE1 mRNA alternative splicing. J.Neurochem. 2012, 121:763-773.
-
(2012)
J.Neurochem.
, vol.121
, pp. 763-773
-
-
Fisette, J.-F.1
Montagna, D.R.2
Mihailescu, M.-R.3
Wolfe, M.S.4
-
17
-
-
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.C., Parkinson G., Isaacs A.M. 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
Zloh, M.4
Fisher, E.M.C.5
Parkinson, G.6
Isaacs, A.M.7
-
18
-
-
84892590289
-
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
-
Gendron T.F., Bieniek K.F., Zhang Y.-J., Jansen-West K., Ash P.E.A., Caulfield T., Daughrity L., Dunmore J.H., Castanedes-Casey M., Chew J., Cosio D.M., van Blitterswijk M., Lee W.C., Rademakers R., Boylan K.B., Dickson D.W., Petrucelli L. Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS. Acta Neuropathol. 2013, 126:829-844.
-
(2013)
Acta Neuropathol.
, vol.126
, pp. 829-844
-
-
Gendron, T.F.1
Bieniek, K.F.2
Zhang, Y.-J.3
Jansen-West, K.4
Ash, P.E.A.5
Caulfield, T.6
Daughrity, L.7
Dunmore, J.H.8
Castanedes-Casey, M.9
Chew, J.10
Cosio, D.M.11
van Blitterswijk, M.12
Lee, W.C.13
Rademakers, R.14
Boylan, K.B.15
Dickson, D.W.16
Petrucelli, L.17
-
19
-
-
83555166183
-
AC9orf72 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., Sleegers K., Philtjens S., Kleinberger G., Janssens J., Bettens K., Van Cauwenberghe C., Pereson S., Engelborghs S., Sieben A., De Jonghe P., Vandenberghe R., Santens P., De Bleecker J., Maes G., Bäumer V., Dillen L., Joris G., Cuijt I., Corsmit E., Elinck E., Van Dongen J., Vermeulen S., Van den Broeck M., Vaerenberg C., Mattheijssens M., Peeters K., Robberecht W., Cras P., Martin J.-J., De Deyn P.P., Cruts M., Van Broeckhoven C. AC9orf72 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
Sleegers, K.4
Philtjens, S.5
Kleinberger, G.6
Janssens, J.7
Bettens, K.8
Van Cauwenberghe, C.9
Pereson, S.10
Engelborghs, S.11
Sieben, A.12
De Jonghe, P.13
Vandenberghe, R.14
Santens, P.15
De Bleecker, J.16
Maes, G.17
Bäumer, V.18
Dillen, L.19
Joris, G.20
Cuijt, I.21
Corsmit, E.22
Elinck, E.23
Van Dongen, J.24
Vermeulen, S.25
Van den Broeck, M.26
Vaerenberg, C.27
Mattheijssens, M.28
Peeters, K.29
Robberecht, W.30
Cras, P.31
Martin, J.-J.32
De Deyn, P.P.33
Cruts, M.34
Van Broeckhoven, C.35
more..
-
20
-
-
33845994055
-
Telomestatin-induced telomere uncapping is modulated by POT1 through G-overhang extension in HT1080 human tumor cells
-
Gomez D., Wenner T., Brassart B., Douarre C., O'Donohue M.-F., El Khoury V., Shin-Ya K., Morjani H., Trentesaux C., Riou J.-F. Telomestatin-induced telomere uncapping is modulated by POT1 through G-overhang extension in HT1080 human tumor cells. J.Biol. Chem. 2006, 281:38721-38729.
-
(2006)
J.Biol. Chem.
, vol.281
, pp. 38721-38729
-
-
Gomez, D.1
Wenner, T.2
Brassart, B.3
Douarre, C.4
O'Donohue, M.-F.5
El Khoury, V.6
Shin-Ya, K.7
Morjani, H.8
Trentesaux, C.9
Riou, J.-F.10
-
21
-
-
84873676245
-
C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration
-
Gómez-Tortosa E., Gallego J., Guerrero-López R., Marcos A., Gil-Neciga E., Sainz M.J., Díaz A., Franco-Macías E., Trujillo-Tiebas M.J., Ayuso C., Pérez-Pérez J. C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration. Neurology 2013, 80:366-370.
-
(2013)
Neurology
, vol.80
, pp. 366-370
-
-
Gómez-Tortosa, E.1
Gallego, J.2
Guerrero-López, R.3
Marcos, A.4
Gil-Neciga, E.5
Sainz, M.J.6
Díaz, A.7
Franco-Macías, E.8
Trujillo-Tiebas, M.J.9
Ayuso, C.10
Pérez-Pérez, J.11
-
22
-
-
84896259966
-
C9orf72 nucleotide repeat structures initiate molecular cascades of disease
-
Haeusler A.R., Donnelly C.J., Periz G., Simko E.A.J., Shaw P.G., Kim M.-S., Maragakis N.J., Troncoso J.C., Pandey A., Sattler R., Rothstein J.D., Wang J. C9orf72 nucleotide repeat structures initiate molecular cascades of disease. Nature 2014, 507:195-200.
-
(2014)
Nature
, vol.507
, pp. 195-200
-
-
Haeusler, A.R.1
Donnelly, C.J.2
Periz, G.3
Simko, E.A.J.4
Shaw, P.G.5
Kim, M.-S.6
Maragakis, N.J.7
Troncoso, J.C.8
Pandey, A.9
Sattler, R.10
Rothstein, J.D.11
Wang, J.12
-
23
-
-
20144364292
-
Prevalence of quadruplexes in the human genome
-
Huppert J.L., Balasubramanian S. Prevalence of quadruplexes in the human genome. Nucleic Acids Res. 2005, 33:2908-2916.
-
(2005)
Nucleic Acids Res.
, vol.33
, pp. 2908-2916
-
-
Huppert, J.L.1
Balasubramanian, S.2
-
24
-
-
84877768759
-
G-quadruplex structures are stable and detectable in human genomic DNA
-
Lam E.Y.N., Beraldi D., Tannahill D., Balasubramanian S. G-quadruplex structures are stable and detectable in human genomic DNA. Nat. Commun. 2013, 4:1796.
-
(2013)
Nat. Commun.
, vol.4
, pp. 1796
-
-
Lam, E.Y.N.1
Beraldi, D.2
Tannahill, D.3
Balasubramanian, S.4
-
25
-
-
84858622829
-
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
-
Majounie E., Renton A.E., Mok K., Dopper E.G.P., Waite A., Rollinson S., Chiò A., Restagno G., Nicolaou N., Simon-Sanchez J., van Swieten J.C., Abramzon Y., Johnson J.O., Sendtner M., Pamphlett R., Orrell R.W., Mead S., Sidle K.C., Houlden H., Rohrer J.D., Morrison K.E., Pall H., Talbot K., Ansorge O., Hernandez D.G., Arepalli S., Sabatelli M., Mora G., Corbo M., Giannini F., Calvo A., Englund E., Borghero G., Floris G.L., Remes A.M., Laaksovirta H., McCluskey L., Trojanowski J.Q., Van Deerlin V.M., Schellenberg G.D., Nalls M.A., Drory V.E., Lu C.-S., Yeh T.-H., Ishiura H., Takahashi Y., Tsuji S., Le Ber I., Brice A., Drepper C., Williams N., Kirby J., Shaw P., Hardy J., Tienari P.J., Heutink P., Morris H.R., Pickering-Brown S., Traynor B.J. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol. 2012, 11:323-330. Chromosome 9-ALS/FTD Consortium, French research network on FTLD/FTLD/ALS, ITALSGEN Consortium.
-
(2012)
Lancet Neurol.
, vol.11
, pp. 323-330
-
-
Majounie, E.1
Renton, A.E.2
Mok, K.3
Dopper, E.G.P.4
Waite, A.5
Rollinson, S.6
Chiò, A.7
Restagno, G.8
Nicolaou, N.9
Simon-Sanchez, J.10
van Swieten, J.C.11
Abramzon, Y.12
Johnson, J.O.13
Sendtner, M.14
Pamphlett, R.15
Orrell, R.W.16
Mead, S.17
Sidle, K.C.18
Houlden, H.19
Rohrer, J.D.20
Morrison, K.E.21
Pall, H.22
Talbot, K.23
Ansorge, O.24
Hernandez, D.G.25
Arepalli, S.26
Sabatelli, M.27
Mora, G.28
Corbo, M.29
Giannini, F.30
Calvo, A.31
Englund, E.32
Borghero, G.33
Floris, G.L.34
Remes, A.M.35
Laaksovirta, H.36
McCluskey, L.37
Trojanowski, J.Q.38
Van Deerlin, V.M.39
Schellenberg, G.D.40
Nalls, M.A.41
Drory, V.E.42
Lu, C.-S.43
Yeh, T.-H.44
Ishiura, H.45
Takahashi, Y.46
Tsuji, S.47
Le Ber, I.48
Brice, A.49
Drepper, C.50
Williams, N.51
Kirby, J.52
Shaw, P.53
Hardy, J.54
Tienari, P.J.55
Heutink, P.56
Morris, H.R.57
Pickering-Brown, S.58
Traynor, B.J.59
more..
-
26
-
-
79952299200
-
G-quadruplex structures in TP53 intron 3: role in alternative splicing and in production of p53 mRNA isoforms
-
Marcel V., Tran P.L.T., Sagne C., Martel-Planche G., Vaslin L., Teulade-Fichou M.-P., Hall J., Mergny J.-L., Hainaut P., Van Dyck E. G-quadruplex structures in TP53 intron 3: role in alternative splicing and in production of p53 mRNA isoforms. Carcinogenesis 2011, 32:271-278.
-
(2011)
Carcinogenesis
, vol.32
, pp. 271-278
-
-
Marcel, V.1
Tran, P.L.T.2
Sagne, C.3
Martel-Planche, G.4
Vaslin, L.5
Teulade-Fichou, M.-P.6
Hall, J.7
Mergny, J.-L.8
Hainaut, P.9
Van Dyck, E.10
-
27
-
-
84892585908
-
C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci
-
Mizielinska S., Lashley T., Norona F.E., Clayton E.L., Ridler C.E., Fratta P., Isaacs A.M. C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci. Acta Neuropathol. 2013, 126:845-857.
-
(2013)
Acta Neuropathol.
, vol.126
, pp. 845-857
-
-
Mizielinska, S.1
Lashley, T.2
Norona, F.E.3
Clayton, E.L.4
Ridler, C.E.5
Fratta, P.6
Isaacs, A.M.7
-
28
-
-
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., Haass C., Edbauer D. The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 2013, 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
Haass, C.11
Edbauer, D.12
-
29
-
-
78649511027
-
Small-molecule-mediated G-quadruplex isolation from human cells
-
Müller S., Kumari S., Rodriguez R., Balasubramanian S. Small-molecule-mediated G-quadruplex isolation from human cells. Nat. Chem. 2010, 2:1095-1098.
-
(2010)
Nat. Chem.
, vol.2
, pp. 1095-1098
-
-
Müller, S.1
Kumari, S.2
Rodriguez, R.3
Balasubramanian, S.4
-
30
-
-
68249156463
-
Formation of a unique end-to-end stacked pair of G-quadruplexes in the hTERT core promoter with implications for inhibition of telomerase by G-quadruplex-interactive ligands
-
Palumbo S.L., Ebbinghaus S.W., Hurley L.H. Formation of a unique end-to-end stacked pair of G-quadruplexes in the hTERT core promoter with implications for inhibition of telomerase by G-quadruplex-interactive ligands. J.Am. Chem. Soc. 2009, 131:10878-10891.
-
(2009)
J.Am. Chem. Soc.
, vol.131
, pp. 10878-10891
-
-
Palumbo, S.L.1
Ebbinghaus, S.W.2
Hurley, L.H.3
-
31
-
-
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.R., Macgregor R.B., Pearson C.E. 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, 288:9860-9866.
-
(2013)
J.Biol. Chem.
, vol.288
, pp. 9860-9866
-
-
Reddy, K.1
Zamiri, B.2
Stanley, S.Y.R.3
Macgregor, R.B.4
Pearson, C.E.5
-
32
-
-
80054837386
-
Ahexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
Renton A.E., Majounie E., Waite A., Simón-Sánchez J., Rollinson S., Gibbs J.R., Schymick J.C., Laaksovirta H., van Swieten J.C., Myllykangas L., Kalimo H., Paetau A., Abramzon Y., Remes A.M., Kaganovich A., Scholz S.W., Duckworth J., Ding J., Harmer D.W., Hernandez D.G., Johnson J.O., Mok K., Ryten M., Trabzuni D., Guerreiro R.J., Orrell R.W., Neal J., Murray A., Pearson J., Jansen I.E., Sondervan D., Seelaar H., Blake D., Young K., Halliwell N., Callister J.B., Toulson G., Richardson A., Gerhard A., Snowden J., Mann D., Neary D., Nalls M.A., Peuralinna T., Jansson L., Isoviita V.M., Kaivorinne A.L., Hölttä-Vuori M., Ikonen E., Sulkava R., Benatar M., Wuu J., Chiò A., Restagno G., Borghero G., Sabatelli M., Heckerman D., Rogaeva E., Zinman L., Rothstein J.D., Sendtner M., Drepper C., Eichler E.E., Alkan C., Abdullaev Z., Pack S.D., Dutra A., Pak E., Hardy J., Singleton A., Williams N.M., Heutink P., Pickering-Brown S., Morris H.R., Tienari P.J., Traynor B.J. Ahexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011, 72:257-268.
-
(2011)
Neuron
, vol.72
, pp. 257-268
-
-
Renton, A.E.1
Majounie, E.2
Waite, A.3
Simón-Sánchez, J.4
Rollinson, S.5
Gibbs, J.R.6
Schymick, J.C.7
Laaksovirta, H.8
van Swieten, J.C.9
Myllykangas, L.10
Kalimo, H.11
Paetau, A.12
Abramzon, Y.13
Remes, A.M.14
Kaganovich, A.15
Scholz, S.W.16
Duckworth, J.17
Ding, J.18
Harmer, D.W.19
Hernandez, D.G.20
Johnson, J.O.21
Mok, K.22
Ryten, M.23
Trabzuni, D.24
Guerreiro, R.J.25
Orrell, R.W.26
Neal, J.27
Murray, A.28
Pearson, J.29
Jansen, I.E.30
Sondervan, D.31
Seelaar, H.32
Blake, D.33
Young, K.34
Halliwell, N.35
Callister, J.B.36
Toulson, G.37
Richardson, A.38
Gerhard, A.39
Snowden, J.40
Mann, D.41
Neary, D.42
Nalls, M.A.43
Peuralinna, T.44
Jansson, L.45
Isoviita, V.M.46
Kaivorinne, A.L.47
Hölttä-Vuori, M.48
Ikonen, E.49
Sulkava, R.50
Benatar, M.51
Wuu, J.52
Chiò, A.53
Restagno, G.54
Borghero, G.55
Sabatelli, M.56
Heckerman, D.57
Rogaeva, E.58
Zinman, L.59
Rothstein, J.D.60
Sendtner, M.61
Drepper, C.62
Eichler, E.E.63
Alkan, C.64
Abdullaev, Z.65
Pack, S.D.66
Dutra, A.67
Pak, E.68
Hardy, J.69
Singleton, A.70
Williams, N.M.71
Heutink, P.72
Pickering-Brown, S.73
Morris, H.R.74
Tienari, P.J.75
Traynor, B.J.76
more..
-
33
-
-
56749151077
-
Anovel small molecule that alters shelterin integrity and triggers a DNA-damage response at telomeres
-
Rodriguez R., Müller S., Yeoman J.A., Trentesaux C., Riou J.-F., Balasubramanian S. Anovel small molecule that alters shelterin integrity and triggers a DNA-damage response at telomeres. J.Am. Chem. Soc. 2008, 130:15758-15759.
-
(2008)
J.Am. Chem. Soc.
, vol.130
, pp. 15758-15759
-
-
Rodriguez, R.1
Müller, S.2
Yeoman, J.A.3
Trentesaux, C.4
Riou, J.-F.5
Balasubramanian, S.6
-
34
-
-
0023788886
-
Formation of parallel four-stranded complexes by guanine-rich motifs in DNA and its implications for meiosis
-
Sen D., Gilbert W. Formation of parallel four-stranded complexes by guanine-rich motifs in DNA and its implications for meiosis. Nature 1988, 334:364-366.
-
(1988)
Nature
, vol.334
, pp. 364-366
-
-
Sen, D.1
Gilbert, W.2
-
35
-
-
77956428377
-
Tetramolecular DNA quadruplexes in solution: insights into structural diversity and cation movement
-
Sket P., Plavec J. Tetramolecular DNA quadruplexes in solution: insights into structural diversity and cation movement. J.Am. Chem. Soc. 2010, 132:12724-12732.
-
(2010)
J.Am. Chem. Soc.
, vol.132
, pp. 12724-12732
-
-
Sket, P.1
Plavec, J.2
-
36
-
-
84871219249
-
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder
-
Smith B.N., Newhouse S., Shatunov A., Vance C., Topp S., Johnson L., Miller J., Lee Y., Troakes C., Scott K.M., Jones A., Gray I., Wright J., Hortobágyi T., Al-Sarraj S., Rogelj B., Powell J., Lupton M., Lovestone S., Sapp P.C., Weber M., Nestor P.J., Schelhaas H.J., Asbroek A.A.T., Silani V., Gellera C., Taroni F., Ticozzi N., Van den Berg L., Veldink J., Van Damme P., Robberecht W., Shaw P.J., Kirby J., Pall H., Morrison K.E., Morris A., de Belleroche J., Vianney de Jong J.M.B., Baas F., Andersen P.M., Landers J., Brown R.H., Weale M.E., Al-Chalabi A., Shaw C.E. The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur. J. Hum. Genet. 2013, 21:102-108.
-
(2013)
Eur. J. Hum. Genet.
, vol.21
, pp. 102-108
-
-
Smith, B.N.1
Newhouse, S.2
Shatunov, A.3
Vance, C.4
Topp, S.5
Johnson, L.6
Miller, J.7
Lee, Y.8
Troakes, C.9
Scott, K.M.10
Jones, A.11
Gray, I.12
Wright, J.13
Hortobágyi, T.14
Al-Sarraj, S.15
Rogelj, B.16
Powell, J.17
Lupton, M.18
Lovestone, S.19
Sapp, P.C.20
Weber, M.21
Nestor, P.J.22
Schelhaas, H.J.23
Asbroek, A.A.T.24
Silani, V.25
Gellera, C.26
Taroni, F.27
Ticozzi, N.28
Van den Berg, L.29
Veldink, J.30
Van Damme, P.31
Robberecht, W.32
Shaw, P.J.33
Kirby, J.34
Pall, H.35
Morrison, K.E.36
Morris, A.37
de Belleroche, J.38
Vianney de Jong, J.M.B.39
Baas, F.40
Andersen, P.M.41
Landers, J.42
Brown, R.H.43
Weale, M.E.44
Al-Chalabi, A.45
Shaw, C.E.46
more..
-
37
-
-
84866600630
-
An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline
-
Troakes C., Maekawa S., Wijesekera L., Rogelj B., Siklós L., Bell C., Smith B., Newhouse S., Vance C., Johnson L., Hortobágyi T., Shatunov A., Al-Chalabi A., Leigh N., Shaw C.E., King A., Al-Sarraj S. An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline. Neuropathology 2012, 32:505-514.
-
(2012)
Neuropathology
, vol.32
, pp. 505-514
-
-
Troakes, C.1
Maekawa, S.2
Wijesekera, L.3
Rogelj, B.4
Siklós, L.5
Bell, C.6
Smith, B.7
Newhouse, S.8
Vance, C.9
Johnson, L.10
Hortobágyi, T.11
Shatunov, A.12
Al-Chalabi, A.13
Leigh, N.14
Shaw, C.E.15
King, A.16
Al-Sarraj, S.17
-
38
-
-
84884163243
-
Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study
-
Van Blitterswijk M., DeJesus-Hernandez M., Niemantsverdriet E., Murray M.E., Heckman M.G., Diehl N.N., Brown P.H., Baker M.C., Finch N.A., Bauer P.O., Serrano G., Beach T.G., Josephs K.A., Knopman D.S., Petersen R.C., Boeve B.F., Graff-Radford N.R., Boylan K.B., Petrucelli L., Dickson D.W., Rademakers R. Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study. Lancet Neurol. 2013, 12:978-988.
-
(2013)
Lancet Neurol.
, vol.12
, pp. 978-988
-
-
Van Blitterswijk, M.1
DeJesus-Hernandez, M.2
Niemantsverdriet, E.3
Murray, M.E.4
Heckman, M.G.5
Diehl, N.N.6
Brown, P.H.7
Baker, M.C.8
Finch, N.A.9
Bauer, P.O.10
Serrano, G.11
Beach, T.G.12
Josephs, K.A.13
Knopman, D.S.14
Petersen, R.C.15
Boeve, B.F.16
Graff-Radford, N.R.17
Boylan, K.B.18
Petrucelli, L.19
Dickson, D.W.20
Rademakers, R.21
more..
-
39
-
-
84903819307
-
Unconventional features of C9ORF72 expanded repeat in amyotrophic lateral sclerosis and frontotemporal lobar degeneration
-
Vatovec S., Kovanda A., Rogelj B. Unconventional features of C9ORF72 expanded repeat in amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Neurobiol. Aging 2014, 35:2421.e1-2421.e12.
-
(2014)
Neurobiol. Aging
, vol.35
-
-
Vatovec, S.1
Kovanda, A.2
Rogelj, B.3
-
40
-
-
84896714434
-
Stimulation of ribosomal frameshifting by RNA G-quadruplex structures
-
Yu C.-H., Teulade-Fichou M.-P., Olsthoorn R.C.L. Stimulation of ribosomal frameshifting by RNA G-quadruplex structures. Nucleic Acids Res. 2014, 42:1887-1892.
-
(2014)
Nucleic Acids Res.
, vol.42
, pp. 1887-1892
-
-
Yu, C.-H.1
Teulade-Fichou, M.-P.2
Olsthoorn, R.C.L.3
-
41
-
-
84894465709
-
TMPyP4 porphyrin distorts RNA G-quadruplex structures of the disease-associated r(GGGGCC)n repeat of the C9orf72 gene and blocks interaction of RNA-binding proteins
-
Zamiri B., Reddy K., Macgregor R.B., Pearson C.E. TMPyP4 porphyrin distorts RNA G-quadruplex structures of the disease-associated r(GGGGCC)n repeat of the C9orf72 gene and blocks interaction of RNA-binding proteins. J.Biol. Chem. 2014, 289:4653-4659.
-
(2014)
J.Biol. Chem.
, vol.289
, pp. 4653-4659
-
-
Zamiri, B.1
Reddy, K.2
Macgregor, R.B.3
Pearson, C.E.4
-
42
-
-
84890837640
-
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
-
Zu T., Liu Y., Bañez-Coronel M., Reid T., Pletnikova O., Lewis J., Miller T.M., Harms M.B., Falchook A.E., Subramony S.H., Ostrow L.W., Rothstein J.D., Troncoso J.C., Ranum L.P.W. RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proc. Natl. Acad. Sci. U. S. A. 2013, 110:E4968-E4977.
-
(2013)
Proc. Natl. Acad. Sci. U. S. A.
, vol.110
, pp. E4968-E4977
-
-
Zu, T.1
Liu, Y.2
Bañez-Coronel, M.3
Reid, T.4
Pletnikova, O.5
Lewis, J.6
Miller, T.M.7
Harms, M.B.8
Falchook, A.E.9
Subramony, S.H.10
Ostrow, L.W.11
Rothstein, J.D.12
Troncoso, J.C.13
Ranum, L.P.W.14
|