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Page 1
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: guerrera ic. Nat Commun. 2019 Sep 3;10(1):3967. doi: 10.1038/s41467-019-11951-x. Nat Commun. 2019. PMID: 31481669 Free PMC article.
Impact of Cystinosin Glycosylation on Protein Stability by Differential Dynamic Stable Isotope Labeling by Amino Acids in Cell Culture (SILAC).
Nevo N, Thomas L, Chhuon C, Andrzejewska Z, Lipecka J, Guillonneau F, Bailleux A, Edelman A, Antignac C, Guerrera IC. Nevo N, et al. Among authors: guerrera ic. Mol Cell Proteomics. 2017 Mar;16(3):457-468. doi: 10.1074/mcp.M116.063867. Epub 2017 Jan 12. Mol Cell Proteomics. 2017. PMID: 28082515 Free PMC article.
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: guerrera ic. 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.
The equilibrative nucleoside transporter ENT1 is critical for nucleotide homeostasis and optimal erythropoiesis.
Mikdar M, González-Menéndez P, Cai X, Zhang Y, Serra M, Dembele AK, Boschat AC, Sanquer S, Chhuon C, Guerrera IC, Sitbon M, Hermine O, Colin Y, Le Van Kim C, Kinet S, Mohandas N, Xia Y, Peyrard T, Taylor N, Azouzi S. Mikdar M, et al. Among authors: guerrera ic. Blood. 2021 Jun 24;137(25):3548-3562. doi: 10.1182/blood.2020007281. Blood. 2021. PMID: 33690842 Free PMC article.
Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis.
Lobry T, Miller R, Nevo N, Rocca CJ, Zhang J, Catz SD, Moore F, Thomas L, Pouly D, Bailleux A, Guerrera IC, Gubler MC, Cheung WW, Mak RH, Montier T, Antignac C, Cherqui S. Lobry T, et al. Among authors: guerrera ic. Kidney Int. 2019 Aug;96(2):350-362. doi: 10.1016/j.kint.2019.01.029. Epub 2019 Mar 6. Kidney Int. 2019. PMID: 30928021 Free PMC article.
The Heterochromatin protein 1 is a regulator in RNA splicing precision deficient in ulcerative colitis.
Mata-Garrido J, Xiang Y, Chang-Marchand Y, Reisacher C, Ageron E, Guerrera IC, Casafont I, Bruneau A, Cherbuy C, Treton X, Dumay A, Ogier-Denis E, Batsché E, Costallat M, Revêchon G, Eriksson M, Muchardt C, Arbibe L. Mata-Garrido J, et al. Among authors: guerrera ic. Nat Commun. 2022 Nov 18;13(1):6834. doi: 10.1038/s41467-022-34556-3. Nat Commun. 2022. PMID: 36400769 Free PMC article.
Intracellular offspring released from SFB filaments are flagellated.
Nkamba I, Mulet C, Dubey GP, Gorgette O, Couesnon A, Salles A, Moya-Nilges M, Jung V, Gaboriau-Routhiau V, Guerrera IC, Shima T, Umesaki Y, Nigro G, Krijnse-Locker J, Bérard M, Cerf-Bensussan N, Sansonetti PJ, Schnupf P. Nkamba I, et al. Among authors: guerrera ic. Nat Microbiol. 2020 Jan;5(1):34-39. doi: 10.1038/s41564-019-0608-1. Epub 2019 Dec 9. Nat Microbiol. 2020. PMID: 31819216 Free PMC article.
89 results