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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: buscara l. Nat Commun. 2019 Sep 3;10(1):3967. doi: 10.1038/s41467-019-11951-x. Nat Commun. 2019. PMID: 31481669 Free PMC article.
Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs.
Mack DL, Poulard K, Goddard MA, Latournerie V, Snyder JM, Grange RW, Elverman MR, Denard J, Veron P, Buscara L, Le Bec C, Hogrel JY, Brezovec AG, Meng H, Yang L, Liu F, O'Callaghan M, Gopal N, Kelly VE, Smith BK, Strande JL, Mavilio F, Beggs AH, Mingozzi F, Lawlor MW, Buj-Bello A, Childers MK. Mack DL, et al. Among authors: buscara l. Mol Ther. 2017 Apr 5;25(4):839-854. doi: 10.1016/j.ymthe.2017.02.004. Epub 2017 Feb 22. Mol Ther. 2017. PMID: 28237839 Free PMC article.
Goat RSPO1 over-expression rescues sex-reversal in Rspo1-knockout XX mice but does not perturb testis differentiation in XY or sex-reversed XX mice.
Buscara L, Montazer-Torbati F, Chadi S, Auguste A, Laubier J, Chassot AA, Renault L, Passet B, Costa J, Pannetier M, Vilotte M, Chaboissier MC, Vilotte JL, Pailhoux E, Le Provost F. Buscara L, et al. Transgenic Res. 2009 Aug;18(4):649-54. doi: 10.1007/s11248-009-9247-2. Epub 2009 Jan 30. Transgenic Res. 2009. PMID: 19184501