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Page 1
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: boschat ac. 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: boschat ac. Nat Commun. 2019 Sep 3;10(1):3967. doi: 10.1038/s41467-019-11951-x. Nat Commun. 2019. PMID: 31481669 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: boschat ac. Blood. 2021 Jun 24;137(25):3548-3562. doi: 10.1182/blood.2020007281. Blood. 2021. PMID: 33690842 Free PMC article.
Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation.
Martin E, Minet N, Boschat AC, Sanquer S, Sobrino S, Lenoir C, de Villartay JP, Leite-de-Moraes M, Picard C, Soudais C, Bourne T, Hambleton S, Hughes SM, Wynn RF, Briggs TA; Genomics England Research Consortium; Patel S, Lawrence MG, Fischer A, Arkwright PD, Latour S. Martin E, et al. Among authors: boschat ac. JCI Insight. 2020 Mar 12;5(5):e133880. doi: 10.1172/jci.insight.133880. JCI Insight. 2020. PMID: 32161190 Free PMC article.
Lack of Skeletal Muscle Serotonin Impairs Physical Performance.
Falabrègue M, Boschat AC, Jouffroy R, Derquennes M, Djemai H, Sanquer S, Barouki R, Coumoul X, Toussaint JF, Hermine O, Noirez P, Côté F. Falabrègue M, et al. Among authors: boschat ac. Int J Tryptophan Res. 2021 Mar 22;14:11786469211003109. doi: 10.1177/11786469211003109. eCollection 2021. Int J Tryptophan Res. 2021. PMID: 33814916 Free PMC article.
Differential roles of CTP synthetases CTPS1 and CTPS2 in cell proliferation.
Minet N, Boschat AC, Lane R, Laughton D, Beer P, Asnagli H, Soudais C, Bourne T, Fischer A, Martin E, Latour S. Minet N, et al. Among authors: boschat ac. Life Sci Alliance. 2023 Jun 22;6(9):e202302066. doi: 10.26508/lsa.202302066. Print 2023 Sep. Life Sci Alliance. 2023. PMID: 37348953 Free PMC article.