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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.
IL1-receptor accessory protein-like 1 (IL1RAPL1), a protein involved in cognitive functions, regulates N-type Ca2+-channel and neurite elongation.
Gambino F, Pavlowsky A, Béglé A, Dupont JL, Bahi N, Courjaret R, Gardette R, Hadjkacem H, Skala H, Poulain B, Chelly J, Vitale N, Humeau Y. Gambino F, et al. Among authors: chelly j. Proc Natl Acad Sci U S A. 2007 May 22;104(21):9063-8. doi: 10.1073/pnas.0701133104. Epub 2007 May 14. Proc Natl Acad Sci U S A. 2007. PMID: 17502602 Free PMC 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
Lack of the presynaptic RhoGAP protein oligophrenin1 leads to cognitive disabilities through dysregulation of the cAMP/PKA signalling pathway.
Khelfaoui M, Gambino F, Houbaert X, Ragazzon B, Müller C, Carta M, Lanore F, Srikumar BN, Gastrein P, Lepleux M, Zhang CL, Kneib M, Poulain B, Reibel-Foisset S, Vitale N, Chelly J, Billuart P, Lüthi A, Humeau Y. Khelfaoui M, et al. Among authors: chelly j. Philos Trans R Soc Lond B Biol Sci. 2013 Dec 2;369(1633):20130160. doi: 10.1098/rstb.2013.0160. Print 2014 Jan 5. Philos Trans R Soc Lond B Biol Sci. 2013. PMID: 24298161 Free PMC article.
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.
669 results