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Loss of X-linked mental retardation gene oligophrenin1 in mice impairs spatial memory and leads to ventricular enlargement and dendritic spine immaturity.
Khelfaoui M, Denis C, van Galen E, de Bock F, Schmitt A, Houbron C, Morice E, Giros B, Ramakers G, Fagni L, Chelly J, Nosten-Bertrand M, Billuart P. Khelfaoui M, et al. Among authors: chelly j. J Neurosci. 2007 Aug 29;27(35):9439-50. doi: 10.1523/JNEUROSCI.2029-07.2007. J Neurosci. 2007. PMID: 17728457 Free PMC article.
A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutation.
Pavlowsky A, Gianfelice A, Pallotto M, Zanchi A, Vara H, Khelfaoui M, Valnegri P, Rezai X, Bassani S, Brambilla D, Kumpost J, Blahos J, Roux MJ, Humeau Y, Chelly J, Passafaro M, Giustetto M, Billuart P, Sala C. Pavlowsky A, et al. Among authors: chelly j. Curr Biol. 2010 Jan 26;20(2):103-15. doi: 10.1016/j.cub.2009.12.030. Epub 2010 Jan 21. Curr Biol. 2010. PMID: 20096586 Free article.
IL1RAPL1 controls inhibitory networks during cerebellar development in mice.
Gambino F, Kneib M, Pavlowsky A, Skala H, Heitz S, Vitale N, Poulain B, Khelfaoui M, Chelly J, Billuart P, Humeau Y. Gambino F, et al. Among authors: chelly j. Eur J Neurosci. 2009 Oct;30(8):1476-86. doi: 10.1111/j.1460-9568.2009.06975.x. Epub 2009 Oct 7. Eur J Neurosci. 2009. PMID: 19811529
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.
Ramos-Brossier M, Montani C, Lebrun N, Gritti L, Martin C, Seminatore-Nole C, Toussaint A, Moreno S, Poirier K, Dorseuil O, Chelly J, Hackett A, Gecz J, Bieth E, Faudet A, Heron D, Frank Kooy R, Loeys B, Humeau Y, Sala C, Billuart P. Ramos-Brossier M, et al. Among authors: chelly j. Hum Mol Genet. 2015 Feb 15;24(4):1106-18. doi: 10.1093/hmg/ddu523. Epub 2014 Oct 9. Hum Mol Genet. 2015. PMID: 25305082 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: chelly j. 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.
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation.
Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Crollius H, Carrié A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J. Billuart P, et al. Among authors: chelly j. Nature. 1998 Apr 30;392(6679):923-6. doi: 10.1038/31940. Nature. 1998. PMID: 9582072
[X-linked mental retardation].
Billuart P, Chelly J, Gilgenkrantz S. Billuart P, et al. Among authors: chelly j. Med Sci (Paris). 2005 Nov;21(11):947-53. doi: 10.1051/medsci/20052111947. Med Sci (Paris). 2005. PMID: 16274646 Free article. Review. French.
669 results