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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
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.
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CTP synthetase activity assay by liquid chromatography tandem mass spectrometry in the multiple reaction monitoring mode.
Boschat AC, Minet N, Martin E, Barouki R, Latour S, Sanquer S.
Boschat AC, et al.
J Mass Spectrom. 2019 Nov;54(11):885-893. doi: 10.1002/jms.4442.
J Mass Spectrom. 2019.
PMID: 31524312
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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.
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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.
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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.
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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.
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