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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Courraud J, Chater-Diehl E, Durand B, Vincent M, Del Mar Muniz Moreno M, Boujelbene I, Drouot N, Genschik L, Schaefer E, Nizon M, Gerard B, Abramowicz M, Cogné B, Bronicki L, Burglen L, Barth M, Charles P, Colin E, Coubes C, David A, Delobel B, Demurger F, Passemard S, Denommé AS, Faivre L, Feger C, Fradin M, Francannet C, Genevieve D, Goldenberg A, Guerrot AM, Isidor B, Johannesen KM, Keren B, Kibæk M, Kuentz P, Mathieu-Dramard M, Demeer B, Metreau J, Steensbjerre Møller R, Moutton S, Pasquier L, Pilekær Sørensen K, Perrin L, Renaud M, Saugier P, Rio M, Svane J, Thevenon J, Tran Mau Them F, Tronhjem CE, Vitobello A, Layet V, Auvin S, Khachnaoui K, Birling MC, Drunat S, Bayat A, Dubourg C, El Chehadeh S, Fagerberg C, Mignot C, Guipponi M, Bienvenu T, Herault Y, Thompson J, Willems M, Mandel JL, Weksberg R, Piton A. Courraud J, et al. Among authors: herault y. Genet Med. 2021 Nov;23(11):2150-2159. doi: 10.1038/s41436-021-01263-1. Epub 2021 Aug 3. Genet Med. 2021. PMID: 34345024 Free article.
DYRK1A: a master regulatory protein controlling brain growth.
Guedj F, Pereira PL, Najas S, Barallobre MJ, Chabert C, Souchet B, Sebrie C, Verney C, Herault Y, Arbones M, Delabar JM. Guedj F, et al. Among authors: herault y. Neurobiol Dis. 2012 Apr;46(1):190-203. doi: 10.1016/j.nbd.2012.01.007. Epub 2012 Jan 26. Neurobiol Dis. 2012. PMID: 22293606
Targeted deletion of kidney glucose-6 phosphatase leads to nephropathy.
Clar J, Gri B, Calderaro J, Birling MC, Hérault Y, Smit GP, Mithieux G, Rajas F. Clar J, et al. Among authors: herault y. Kidney Int. 2014 Oct;86(4):747-56. doi: 10.1038/ki.2014.102. Epub 2014 Apr 9. Kidney Int. 2014. PMID: 24717294 Free PMC article.
Excitation/inhibition balance and learning are modified by Dyrk1a gene dosage.
Souchet B, Guedj F, Sahún I, Duchon A, Daubigney F, Badel A, Yanagawa Y, Barallobre MJ, Dierssen M, Yu E, Herault Y, Arbones M, Janel N, Créau N, Delabar JM. Souchet B, et al. Among authors: herault y. Neurobiol Dis. 2014 Sep;69:65-75. doi: 10.1016/j.nbd.2014.04.016. Epub 2014 May 4. Neurobiol Dis. 2014. PMID: 24801365
Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration.
Dubos A, Castells-Nobau A, Meziane H, Oortveld MA, Houbaert X, Iacono G, Martin C, Mittelhaeuser C, Lalanne V, Kramer JM, Bhukel A, Quentin C, Slabbert J, Verstreken P, Sigrist SJ, Messaddeq N, Birling MC, Selloum M, Stunnenberg HG, Humeau Y, Schenck A, Herault Y. Dubos A, et al. Among authors: herault y. Hum Mol Genet. 2015 Dec 1;24(23):6736-55. doi: 10.1093/hmg/ddv380. Epub 2015 Sep 16. Hum Mol Genet. 2015. PMID: 26376863 Free PMC article.
Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability.
Meziane H, Khelfaoui M, Morello N, Hiba B, Calcagno E, Reibel-Foisset S, Selloum M, Chelly J, Humeau Y, Riet F, Zanni G, Herault Y, Bienvenu T, Giustetto M, Billuart P. Meziane H, et al. Among authors: herault y. Hum Mol Genet. 2016 Jun 1;25(11):2314-2323. doi: 10.1093/hmg/ddw102. Epub 2016 May 4. Hum Mol Genet. 2016. PMID: 27146843 Free article.
203 results