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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: sala c. 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.
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: sala c. 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.
The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity.
Montani C, Ramos-Brossier M, Ponzoni L, Gritti L, Cwetsch AW, Braida D, Saillour Y, Terragni B, Mantegazza M, Sala M, Verpelli C, Billuart P, Sala C. Montani C, et al. Among authors: sala c, sala m. J Neurosci. 2017 Jul 12;37(28):6606-6627. doi: 10.1523/JNEUROSCI.3775-16.2017. Epub 2017 Jun 2. J Neurosci. 2017. PMID: 28576939 Free PMC article.
Synaptic dysfunction and intellectual disability.
Valnegri P, Sala C, Passafaro M. Valnegri P, et al. Among authors: sala c. Adv Exp Med Biol. 2012;970:433-49. doi: 10.1007/978-3-7091-0932-8_19. Adv Exp Med Biol. 2012. PMID: 22351067 Review.
Epilepsy and intellectual disability linked protein Shrm4 interaction with GABABRs shapes inhibitory neurotransmission.
Zapata J, Moretto E, Hannan S, Murru L, Longatti A, Mazza D, Benedetti L, Fossati M, Heise C, Ponzoni L, Valnegri P, Braida D, Sala M, Francolini M, Hildebrand J, Kalscheuer V, Fanelli F, Sala C, Bettler B, Bassani S, Smart TG, Passafaro M. Zapata J, et al. Among authors: sala c, sala m. Nat Commun. 2017 Mar 6;8:14536. doi: 10.1038/ncomms14536. Nat Commun. 2017. PMID: 28262662 Free PMC article.
756 results