Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH F Coin, JC Marinoni, C Rodolfo, S Fribourg, AM Pedrini, JM Egly Nature genetics 20 (2), 184-188, 1998 | 430 | 1998 |
Structural basis for the recognition of a nucleoporin FG repeat by the NTF2-like domain of the TAP/p15 mRNA nuclear export factor S Fribourg, IC Braun, E Izaurralde, E Conti Molecular cell 8 (3), 645-656, 2001 | 291 | 2001 |
Impaired ribosome biogenesis in Diamond-Blackfan anemia V Choesmel, D Bacqueville, J Rouquette, J Noaillac-Depeyre, S Fribourg, ... Blood 109 (3), 1275-1283, 2007 | 271 | 2007 |
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy G Bernard, E Chouery, ML Putorti, M Tétreault, A Takanohashi, G Carosso, ... The American Journal of Human Genetics 89 (3), 415-423, 2011 | 257 | 2011 |
Molecular structure of human TFIIH P Schultz, S Fribourg, A Poterszman, V Mallouh, D Moras, JM Egly Cell 102 (5), 599-607, 2000 | 252 | 2000 |
The archaeal exosome core is a hexameric ring structure with three catalytic subunits E Lorentzen, P Walter, S Fribourg, E Evguenieva-Hackenberg, G Klug, ... Nature structural & molecular biology 12 (7), 575-581, 2005 | 234 | 2005 |
A novel mode of RBD-protein recognition in the Y14–Mago complex S Fribourg, D Gatfield, E Izaurralde, E Conti Nature Structural & Molecular Biology 10 (6), 433-439, 2003 | 216 | 2003 |
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations NI Wolf, A Vanderver, RML Van Spaendonk, R Schiffmann, B Brais, ... Neurology 83 (21), 1898-1905, 2014 | 196 | 2014 |
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy M Tétreault, K Choquet, S Orcesi, D Tonduti, U Balottin, M Teichmann, ... The American Journal of Human Genetics 89 (5), 652-655, 2011 | 166 | 2011 |
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III I Thiffault, NI Wolf, D Forget, K Guerrero, LT Tran, K Choquet, ... Nature communications 6 (1), 7623, 2015 | 161 | 2015 |
Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder V Choesmel, S Fribourg, AH Aguissa-Touré, N Pinaud, P Legrand, ... Human molecular genetics 17 (9), 1253-1263, 2008 | 147 | 2008 |
Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections B Ogunjimi, SY Zhang, KB Sørensen, KA Skipper, M Carter-Timofte, ... The Journal of clinical investigation 127 (9), 3543-3556, 2017 | 132 | 2017 |
Deciphering correct strategies for multiprotein complex assembly by co-expression: application to complexes as large as the histone octamer ML Diebold, S Fribourg, M Koch, T Metzger, C Romier Journal of structural biology 175 (2), 178-188, 2011 | 132 | 2011 |
RPS19 mutations in patients with Diamond‐Blackfan anemia MF Campagnoli, U Ramenghi, M Armiraglio, P Quarello, E Garelli, ... Human mutation 29 (7), 911-920, 2008 | 123 | 2008 |
Dissecting the interaction network of multiprotein complexes by pairwise coexpression of subunits in E. coli S Fribourg, C Romier, S Werten, YG Gangloff, A Poterszman, D Moras Journal of molecular biology 306 (2), 363-373, 2001 | 90 | 2001 |
Peptides derived from the bifunctional kinase/RNase enzyme IRE1α modulate IRE1α activity and protect cells from endoplasmic reticulum stress M Bouchecareilh, A Higa, S Fribourg, M Moenner, E Chevet The FASEB Journal 25 (9), 3115-3129, 2011 | 89 | 2011 |
Molecular basis of Diamond–Blackfan anemia: structure and function analysis of RPS19 LA Gregory, AH Aguissa-Toure, N Pinaud, P Legrand, PE Gleizes, ... Nucleic Acids Research 35 (17), 5913-5921, 2007 | 80 | 2007 |
Structural similarity in the absence of sequence homology of the messenger RNA export factors Mtr2 and p15 S Fribourg, E Conti EMBO reports 4 (7), 699-703, 2003 | 69 | 2003 |
Structural and functional aspects of winged-helix domains at the core of transcription initiation complexes M Teichmann, H Dumay-Odelot, S Fribourg Transcription 3 (1), 2-7, 2012 | 61 | 2012 |
Exploring TAR–RNA aptamer loop–loop interaction by X-ray crystallography, UV spectroscopy and surface plasmon resonance I Lebars, P Legrand, A Aimé, N Pinaud, S Fribourg, C Di Primo Nucleic acids research 36 (22), 7146-7156, 2008 | 60 | 2008 |