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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: menara g. Nat Commun. 2019 Sep 3;10(1):3967. doi: 10.1038/s41467-019-11951-x. Nat Commun. 2019. PMID: 31481669 Free PMC article.
A rare castration-resistant progenitor cell population is highly enriched in Pten-null prostate tumours.
Sackmann Sala L, Boutillon F, Menara G, De Goyon-Pélard A, Leprévost M, Codzamanian J, Lister N, Pencik J, Clark A, Cagnard N, Bole-Feysot C, Moriggl R, Risbridger GP, Taylor RA, Kenner L, Guidotti JE, Goffin V. Sackmann Sala L, et al. Among authors: menara g. J Pathol. 2017 Sep;243(1):51-64. doi: 10.1002/path.4924. Epub 2017 Jul 28. J Pathol. 2017. PMID: 28603917