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The cell polarity protein Vangl2 in the muscle shapes the neuromuscular synapse by binding to and regulating the tyrosine kinase MuSK.
Boëx M, Cottin S, Halliez M, Bauché S, Buon C, Sans N, Montcouquiol M, Molgó J, Amar M, Ferry A, Lemaitre M, Rouche A, Langui D, Baskaran A, Fontaine B, Messéant J, Strochlic L. Boëx M, et al. Among authors: buon c. Sci Signal. 2022 May 17;15(734):eabg4982. doi: 10.1126/scisignal.abg4982. Epub 2022 May 17. Sci Signal. 2022. PMID: 35580169
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Bauché S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S. Bauché S, et al. Among authors: buon c. Am J Hum Genet. 2016 Sep 1;99(3):753-761. doi: 10.1016/j.ajhg.2016.06.033. Epub 2016 Aug 25. Am J Hum Genet. 2016. PMID: 27569547 Free PMC article.
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes.
Bauché S, Sureau A, Sternberg D, Rendu J, Buon C, Messéant J, Boëx M, Furling D, Fauré J, Latypova X, Gelot AB, Mayer M, Mary P, Whalen S, Fournier E, Cloix I, Remerand G, Laffargue F, Nougues MC, Fontaine B, Eymard B, Isapof A, Strochlic L. Bauché S, et al. Among authors: buon c. Neurol Genet. 2020 Dec 3;6(6):e534. doi: 10.1212/NXG.0000000000000534. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33659639 Free PMC article.
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.
Masingue M, Cattaneo O, Wolff N, Buon C, Sternberg D, Euchparmakian M, Boex M, Behin A, Mamchaouhi K, Maisonobe T, Nougues MC, Isapof A, Fontaine B, Messéant J, Eymard B, Strochlic L, Bauché S. Masingue M, et al. Among authors: buon c. Sci Rep. 2023 Aug 28;13(1):14054. doi: 10.1038/s41598-023-41008-5. Sci Rep. 2023. PMID: 37640745 Free PMC article.
Discovery of P2X3 selective antagonists for the treatment of chronic pain.
Cantin LD, Bayrakdarian M, Buon C, Grazzini E, Hu YJ, Labrecque J, Leung C, Luo X, Martino G, Paré M, Payza K, Popovic N, Projean D, Santhakumar V, Walpole C, Yu XH, Tomaszewski MJ. Cantin LD, et al. Among authors: buon c. Bioorg Med Chem Lett. 2012 Apr 1;22(7):2565-71. doi: 10.1016/j.bmcl.2012.01.124. Epub 2012 Feb 9. Bioorg Med Chem Lett. 2012. PMID: 22370269