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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Braun DA, et al. Among authors: leidel sa. Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14. Nat Genet. 2017. PMID: 28805828 Free PMC article.
Codon-specific translation reprogramming promotes resistance to targeted therapy.
Rapino F, Delaunay S, Rambow F, Zhou Z, Tharun L, De Tullio P, Sin O, Shostak K, Schmitz S, Piepers J, Ghesquière B, Karim L, Charloteaux B, Jamart D, Florin A, Lambert C, Rorive A, Jerusalem G, Leucci E, Dewaele M, Vooijs M, Leidel SA, Georges M, Voz M, Peers B, Büttner R, Marine JC, Chariot A, Close P. Rapino F, et al. Among authors: leidel sa. Nature. 2018 Jun;558(7711):605-609. doi: 10.1038/s41586-018-0243-7. Epub 2018 Jun 20. Nature. 2018. PMID: 29925953
The ubiquitination landscape of the influenza A virus polymerase.
Günl F, Krischuns T, Schreiber JA, Henschel L, Wahrenburg M, Drexler HCA, Leidel SA, Cojocaru V, Seebohm G, Mellmann A, Schwemmle M, Ludwig S, Brunotte L. Günl F, et al. Among authors: leidel sa. Nat Commun. 2023 Feb 11;14(1):787. doi: 10.1038/s41467-023-36389-0. Nat Commun. 2023. PMID: 36774438 Free PMC article.
65 results