Ivanova, Marina E. and Lukoyanova, Natalya and Malhotra, Sony and Topf, Maya and Trapani, J.A. and Voskoboinik, I. and Saibil, Helen
(2022)
The pore conformation of lymphocyte perforin.
Science Advances
8
(6),
ISSN 2375-2548.
Cif, L. and Demailly, D. and Lin, J.-P. and Barwick, K.E. and Sa, M. and Abela, L. and Malhotra, S. and Chong, W.K. and Steel, D. and Sanchis-Juan, A. and Ngoh, A. and Trump, N. and Meyer, E. and Vasques, X. and Rankin, J. and Allain, M.W. and Applegate, C.D. and Attaripour Isfahani, S. and Baleine, J. and Balint, B. and Bassetti, J.A. and Baple, E.L. and Bhatia, K.P. and Blanchet, C. and Burglen, L. and Cambonie, G. and Seng, E.C. and Bastaraud, S.C. and Cyprien, F. and Coubes, C. and d’Hardemare, V. and Doja, A. and Dorison, N. and Doummar, D. and Dy-Hollins, M.E. and Farrelly, E. and Fitzpatrick, D.R. and Fearon, C. and Fieg, E.L. and Fogel, B.L. and Forman, E.B. and Fox, R.G. and Gahl, W.A. and Galosi, S. and Gonzalez, V. and Graves, T.D. and Gregory, A. and Hallett, M. and Hasegawa, H. and Hayflick, S.J. and Hamosh, A. and Hully, M. and Jansen, S. and Jeong, S.Y. and Krier, J.B. and Krystal, S. and Kumar, K.R. and Laurencin, C. and Lee, H. and Lesca, G. and François, L.L. and Lynch, T. and Mahant, N. and Martinez-Agosto, J.A. and Milesi, C. and Mills, K.A. and Mondain, M. and Morales-Briceno, H. and Ostergaard, J.R and Pal, S. and Pallais, J.C. and Pavillard, F. and Perrigault, P.-F. and Petersen, A.K. and Polo, G. and Poulen, G. and Rinne, T. and Roujeau, T. and Rogers, C. and Roubertie, A. and Sahagian, M. and Schaefer, E. and Selim, L. and Selway, R. and Sharma, N. and Signer, R. and Soldatos, A.G. and Stevenson, D.A. and Stewart, F. and Tchan, M. and Verma, I.C. and de Vries, B.B.A and Wilson, J.L. and Wong, D.A. and Zaitoun, R. and Zhen, D. and Znaczko, A. and Dale, R.C. and de Gusmão, C.M. and Friedman, J. and Fung, V.S.C. and King, M.D. and Mohammad, S.S and Rohena, L. and Waugh, J.L. and Toro, C. and Raymond, F.L. and Topf, Maya and Coubes, P. and Gorman, K.M. and Kurian, M.A.
(2020)
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
143
(11),
pp. 3242-3261.
ISSN 0006-8950.
Vollmer, B. and Pražák, V. and Vasishtan, D. and Jefferys, E.E. and Hernandez-Duran, A. and Vallbracht, M. and Klupp, B. and Mettenleiter, T.C. and Backovic, M. and Rey, F.A. and Topf, Maya and Grünewald, K.
(2020)
The pre-fusion structure of Herpes simplex virus glycoprotein B.
Science Advances
6
(39),
ISSN 2375-2548.
Kryshtafovych, A. and Malhotra, Sony and Monastyrskyy, B. and Cragnolini, T. and Joseph, A.‐P. and Chiu, W. and Topf, Maya
(2019)
Cryo‐EM targets in CASP13: overview and evaluation of results.
Proteins: Structure, Function, and Bioinformatics
87
(12),
pp. 1128-1140.
ISSN 0887-3585.
Lepore, R. and Kryshtafovych, A. and Alahuhta, M. and Veraszto, H.A. and Bomble, Y. J. and Bufton, J.C. and Bullock, A.N. and Caba, C. and Cao, H. and Davies, O.R. and Desfosses, A. and Dunne, M. and Fidelis, K. and Goulding, C.W. and Gurusaran, M. and Gutsche, I. and Harding, C.J. and Hartmann, M.D. and Hayes, C.S. and Joachimiak, A. and Leiman, P.G. and Loppnau, P. and Lovering, A.L. and Lunin, V.V. and Michalska, K. and Mir‐Sanchis, I. and Mitra, A. and Moult, J. and Phillips Jr, G.N. and Pinkas, D.M. and Rice, P.A. and Tong, Y. and Topf, Maya and Walton, J.D. and Schwede, T.
(2019)
Target highlights in CASP13: experimental target structures through the eyes of their authors.
Proteins: Structure, Function, and Bioinformatics
ISSN 0887-3585.
Carecchio, Miryam and Invernizzi, F. and Gonzàlez-Latapi, P. and Panteghini, C. and Zorzi, G. and Romito, L. and Leuzzi, V. and Galosi, S. and Reale, C. and Zibordi, F. and Joseph, A.P. and Topf, Maya and Piano, C. and Bentivoglio, A.R. and Girotti, F. and Morana, P. and Morana, B. and Kurian, M.A. and Garavaglia, B. and Mencacci, N.E. and Lubbe, S.J. and Nardocci, N.
(2019)
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single‐center cohort study.
Movement Disorders
34
(10),
pp. 1516-1527.
ISSN 0885-3185.
Fumagalli, M. and Camus, S.M. and Diekmann, Y. and Burke, A. and Camus, M.D. and Norman, P.J. and Joseph, A. and Abi-Rached, L. and Benazzo, A. and Rasteiro, R. and Mathieson, I. and Topf, Maya and Parham, P. and Thomas, M.G. and Brodsky, F.M.
(2019)
Genetic diversity of CHC22 clathrin impacts its function in glucose metabolism.
eLife
8,
pp. e41517.
ISSN 2050-084X.
McTague, A. and Nair, U. and Malhotra, S. and Meyer, E. and Trump, N. and Gazina, E.V. and Papandreou, A. and Ngoh, A. and Ackermann, S. and Ambegaonkar, G. and Appleton, R. and Desurkar, A. and Eltze, C. and Kneen, R. and Kumar, A.V. and Lascelles, K. and Montgomery, T. and Ramesh, V. and Samanta, R. and Scott, R.H. and Tan, J. and Whitehouse, W. and Poduri, A. and Scheffer, I.E. and Chong, W.K. and Cross, J.H. and Topf, Maya and Petrou, S. and Kurian, M.A.
(2018)
Clinical and molecular characterization ofKCNT1-related severe early-onset epilepsy.
Neurology
90
(1),
ISSN 0028-3878.
Al-Olabi, L. and Polubothu, S. and Dowsett, K. and Andrews, K.A. and Stadnik, P. and Joseph, A.P. and Knox, R. and Pittman, A. and Clark, G. and Baird, W. and Bulstrode, N. and Glover, M. and Gordon, K. and Hargrave, D. and Huson, S.M. and Jacques, T.S. and James, G. and Kondolf, H. and Kangesu, L. and Keppler-Noreuil, K.M. and Khan, A. and Lindhurst, M.J. and Lipson, M. and Mansour, S. and O’Hara, J. and Mahon, C. and Mosica, A. and Moss, C. and Murthy, A. and Ong, J. and Parker, V.E. and Rivière, J.-B. and Sapp, J.C. and Sebire, N.J. and Shah, R. and Sivakumar, B. and Thomas, A. and Virasami, A. and Waelchli, R. and Zeng, Z. and Biesecker, L.G. and Barnacle, A. and Topf, Maya and Semple, R.K. and Patton, E.E. and Kinsler, V.A.
(2018)
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
Journal of Clinical Investigation
128
(4),
pp. 1496-1508.
ISSN 0021-9738.
McTague, A. and Nair, U. and Malhotra, S. and Meyer, E. and Trump, N. and Gazina, E.V. and Papandreou, A. and Ngoh, A. and Ackermann, S. and Ambegaonkar, G. and Appleton, R. and Desurkar, A. and Eltze, C. and Kneen, R. and Kumar, A.V. and Lascelles, K. and Montgomery, T. and Ramesh, V. and Samanta, R. and Scott, R.H. and Tan, J. and Whitehouse, W. and Poduri, A. and Scheffer, I.E. and Chong, W.K. "Kling" and Cross, H.K. and Topf, Maya and Petrou, S. and Kurian, M.A.
(2017)
Clinical and molecular characterisation of KCNT1-related severe early onset epilepsy.
Neurology
90
(1),
ISSN 0028-3878.
Locke, Julia and Joseph, Agnel Praveen and Pena, Alejandro and Mockel, M. and Mayer, T. and Topf, Maya and Moores, Carolyn A.
(2017)
Structural basis of human kinesin-8 function and inhibition.
Proceedings of the National Academy of Sciences of the United States of America
114
(45),
pp. E9539-E9548.
ISSN 0027-8424.
Joseph, Agnel Praveen and Polles, G. and Alber, F. and Topf, Maya
(2017)
Integrative modelling of cellular assemblies.
Current Opinion in Structural Biology
46,
pp. 102-109.
ISSN 0959-440X.
Atherton, Joe and Jiang, K. and Stangier, M.M. and Luo, Y. and Hua, S. and Houben, K. and von Hooff, J.J.E. and Joseph, Agnel Praveen and Scarabelli, G. and Grant, B.J. and Roberts, Anthony and Topf, Maya and Steinmetz, M. and Baldus, M. and Moores, Carolyn A. and Akhmanova, A.
(2017)
A structural model for microtubule minus-end recognition and protection by CAMSAP proteins.
Nature Structural and Molecular Biology
24,
pp. 931-943.
ISSN 1545-9993.
Meyer, E. and Carss, K.J and Rankin, J. and Nichols, J.M.E and Grozeva, D. and Joseph, A.P and Mencacci, N.E. and Papandreou, A. and Ng, J. and Barral, S. and Ngoh, A. and Ben-Pazi, H. and Willemsen, M.A. and Arkadir, D. and Barnicoat, A. and Bergman, H. and Bhate, S. and Boys, A. and Darin, N. and Foulds, N. and Gutowski, N. and Hills, A. and Houlden, H. and Hurst, J.A. and Israel, Z. and Kaminska, M. and Limousin, P. and Lumsden, D. and McKee, S. and Misra, S. and Mohammed, S.S. and Nakou, V. and Nicolai, J. and Nilsson, M. and Pall, H. and Peall, K.J. and Peters, G.B. and Prabhakar, P. and Reuter, M.S. and Rump, P. and Segel, R. and Sinnema, M. and Smith, M. and Turnpenny, P. and White, S.M. and Wieczorek, D. and Wiethoff, S. and Wilson, B.T. and Winter, G. and Wragg, C. and Pope, S. and Heales, S.J.H. and Morrogh, D. and Pittman, A. and Carr, L. J. and Perez-Dueñas, B. and Lin, J.-P. and Reis, A. and Gahl, W.A. and Toro, C. and Bhatia, K.P. and Wood, N.W. and Kamsteeg, E.-J. and Chong, W.K. and Gissen, P. and Topf, Maya and Dale, R.C. and Chubb, J.R. and Raymond, F.L. and Kurian, M.A.
(2016)
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Nature Genetics
49,
pp. 223-237.
ISSN 1061-4036.
Pilorge, M. and Fassier, C. and Le Corronc, H. and Potey, A. and Bai, J. and De Gois, S. and Delaby, E. and Assouline, B. and Guinchat, V. and Devillard, F. and Delorme, R. and Nygren, G. and Råstam, M. and Meier, J.C. and Otani, S. and Cheval, H. and James, V.M. and Topf, Maya and Dear, T.N. and Gillberg, C. and Leboyer, M. and Giros, B. and Gautron, S. and Hazan, J. and Harvey, R.J. and Legendre, P. and Betancur, C.
(2016)
Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism.
Molecular Psychiatry
21,
pp. 936-945.
ISSN 1359-4184.
Stödberg, T. and McTague, A. and Ruiz, A.J. and Hirata, H. and Zhen, J. and Long, P. and Farabella, Irene and Meyer, E. and Kawahara, A. and Vassallo, G. and Stivaros, S.M. and Bjursell, M.K. and Stranneheim, H. and Tigerschiöld, S. and Persson, B. and Bangash, I. and Das, K. and Hughes, D. and Lesko, N. and Lundeberg, J. and Scott, R.C. and Poduri, A. and Scheffer, I.E. and Smith, H. and Gissen, P. and Schorge, S. and Reith, M.E.A. and Topf, Maya and Kullmann, D.M. and Harvey, R.J. and Wedell, A. and Kurian, M.A.
(2015)
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
Nature Communications
6,
pp. 8038.
ISSN 2041-1723.
Sali, A. and Berman, H.M. and Schwede, T. and Trewhella, J. and Kleywegt, G. and Burley, S.K. and Markley, J. and Nakamura, H. and Adams, P. and Bonvin, A.M.J.J. and Wah, C. and Dal Peraro, M. and Di Maio, F. and Ferrin, T.E. and Grünewald, K. and Gutmanas, A. and Henderson, R. and Hummer, G. and Iawsaki, K. and Johnson, G. and Lawson, C.L. and Meiler, J. and Marti-Renom, M.A. and Montelione, G.T. and Nilges, M. and Nussinov, R. and Patwardhan, A. and Rappsilber, J. and Read, R.J. and Saibil, Helen R. and Schröder, G.F. and Schwieters, C. and Seidel, C.A.M. and Svergun, D. and Topf, Maya and Ulrich, E.L. and Velankar, S. and Westbrook, J.D.
(2015)
Outcome of the First wwPDB Hybrid / Integrative Methods Task Force Workshop.
Structure
23
(7),
pp. 1156-1167.
ISSN 0969-2126.
Lukoyanova, Natalya and Kondos, S.C. and Farabella, Irene and Law, R.H.P. and Reboul, C.F. and Caradoc-Davies, T.T. and Spicer, B.A. and Kleifeld, O. and Traore, D.A.K. and Ekkel, S.M. and Voskoboinik, I. and Trapani, J.A. and Hatfaludi, T. and Oliver, K. and Hotze, E.M. and Tweten, R.K. and Whisstock, J.C. and Topf, Maya and Saibil, Helen R. and Dunstone, M.A.
(2015)
Conformational changes during pore formation by the perforin-related protein pleurotolysin.
PLoS Biology
13
(2),
pp. e1002049.
ISSN 1545-7885.
Wood, C. and Burnley, T. and Patwardhan, A. and Scheres, S. and Topf, Maya and Roseman, A. and Winn, M.
(2015)
Collaborative computational project for electron cryo-microscopy.
Acta Crystallographica Section D Biological Crystallography
71
(1),
pp. 123-126.
ISSN 1399-0047.
Leung, C. and Dudkina, N.V. and Lukoyanova, Natalya and Hodel, A.W. and Farabella, I. and Pandurangan, A.P. and Jahan, N. and Pires Damaso, M. and Osmanović, D. and Reboul, C.F. and Dunstone, M.A. and Andrew, P.W. and Lonnen, R. and Topf, Maya and Saibil, Helen R. and Hoogenboom, B.W.
(2014)
Stepwise visualization of membrane pore formation by suilysin, a bacterial cholesterol-dependent cytolysin.
eLife
3,
ISSN 2050-084X.
Mortensen, M. and Iqbal, F. and Pandurangan, Arun and Hannan, S. and Huckvale, R. and Topf, Maya and Baker, J.R. and Smart, T.G.
(2014)
Photo-antagonism of the GABAA receptor.
Nature Communications
5,
ISSN 2041-1723.
James, Victoria M. and Bode, A. and Chung, S.-K. and Gill, J.L. and Nielsen, M. and Cowan, Frances M. and Vujic, M. and Thomas, R.H. and Rees, M.I. and Harvey, K. and Keramidas, A. and Topf, Maya and Ginjaar, I. and Lynch, J.W. and Harvey, R.J.
(2013)
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.
Neurobiology of Disease
52,
pp. 137-149.
ISSN 0969-9961.
Malet, Hélène and Topf, Maya and Clare, Daniel K. and Ebert, J. and Bonneau, F. and Basquin, J. and Drazkowska, K. and Tomecki, R. and Dziembowski, A. and Conti, E. and Saibil, Helen R. and Lorentzen, Esben
(2010)
RNA channelling by the eukaryotic exosome.
EMBO Reports
11
(12),
pp. 936-942.
ISSN 1469-221X.
Taylor, D.J. and Devkota, B. and Huang, A.D. and Topf, Maya and Narayanan, E. and Sali, A. and Harvey, S.C. and Frank, J.
(2009)
Comprehensive molecular structure of the Eukaryotic Ribosome.
Structure
17
(12),
pp. 1591-1604.
ISSN 0969-2126.
Booth, C.R. and Meyer, A.S. and Cong, Y. and Topf, Maya and Sali, A. and Ludtke, Steven J. and Chiu, W. and Frydman, J.
(2008)
Mechanism of lid closure in the eukaryotic chaperonin TRiC/CCT.
Nature Structural and Molecular Biology
15
(7),
pp. 746-753.
ISSN 1545-9993.