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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: liger d. 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.
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.
Arrondel C, Missoury S, Snoek R, Patat J, Menara G, Collinet B, Liger D, Durand D, Gribouval O, Boyer O, Buscara L, Martin G, Machuca E, Nevo F, Lescop E, Braun DA, Boschat AC, Sanquer S, Guerrera IC, Revy P, Parisot M, Masson C, Boddaert N, Charbit M, Decramer S, Novo R, Macher MA, Ranchin B, Bacchetta J, Laurent A, Collardeau-Frachon S, van Eerde AM, Hildebrandt F, Magen D, Antignac C, van Tilbeurgh H, Mollet G. Arrondel C, et al. Among authors: liger d. Nat Commun. 2019 Sep 3;10(1):3967. doi: 10.1038/s41467-019-11951-x. Nat Commun. 2019. PMID: 31481669 Free PMC article.
Molecular determinants of the DprA-RecA interaction for nucleation on ssDNA.
Lisboa J, Andreani J, Sanchez D, Boudes M, Collinet B, Liger D, van Tilbeurgh H, Guérois R, Quevillon-Cheruel S. Lisboa J, et al. Among authors: liger d. Nucleic Acids Res. 2014 Jun;42(11):7395-408. doi: 10.1093/nar/gku349. Epub 2014 Apr 29. Nucleic Acids Res. 2014. PMID: 24782530 Free PMC article.
The Paris-Sud yeast structural genomics pilot-project: from structure to function.
Quevillon-Cheruel S, Liger D, Leulliot N, Graille M, Poupon A, Li de La Sierra-Gallay I, Zhou CZ, Collinet B, Janin J, Van Tilbeurgh H. Quevillon-Cheruel S, et al. Among authors: liger d. Biochimie. 2004 Sep-Oct;86(9-10):617-23. doi: 10.1016/j.biochi.2004.09.013. Biochimie. 2004. PMID: 15556271 Review.
Refolding strategies from inclusion bodies in a structural genomics project.
Trésaugues L, Collinet B, Minard P, Henckes G, Aufrère R, Blondeau K, Liger D, Zhou CZ, Janin J, Van Tilbeurgh H, Quevillon-Cheruel S. Trésaugues L, et al. Among authors: liger d. J Struct Funct Genomics. 2004;5(3):195-204. doi: 10.1023/B:JSFG.0000029017.46332.e3. J Struct Funct Genomics. 2004. PMID: 15263835
31 results