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Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
Wilson GR, Sim JC, McLean C, Giannandrea M, Galea CA, Riseley JR, Stephenson SE, Fitzpatrick E, Haas SA, Pope K, Hogan KJ, Gregg RG, Bromhead CJ, Wargowski DS, Lawrence CH, James PA, Churchyard A, Gao Y, Phelan DG, Gillies G, Salce N, Stanford L, Marsh AP, Mignogna ML, Hayflick SJ, Leventer RJ, Delatycki MB, Mellick GD, Kalscheuer VM, D'Adamo P, Bahlo M, Amor DJ, Lockhart PJ. Wilson GR, et al. Among authors: mignogna ml. Am J Hum Genet. 2014 Dec 4;95(6):729-35. doi: 10.1016/j.ajhg.2014.10.015. Epub 2014 Nov 26. Am J Hum Genet. 2014. PMID: 25434005 Free PMC article.
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, D'Elia E, Vecellio M, Russo S, Cogliati F, Larizza L, Ropers HH, Tzschach A, Kalscheuer V, Oehl-Jaschkowitz B, Skinner C, Schwartz CE, Gecz J, Van Esch H, Raynaud M, Chelly J, de Brouwer AP, Toniolo D, D'Adamo P. Giannandrea M, et al. Among authors: mignogna ml. Am J Hum Genet. 2010 Feb 12;86(2):185-95. doi: 10.1016/j.ajhg.2010.01.011. Am J Hum Genet. 2010. PMID: 20159109 Free PMC article.
Critical importance of RAB proteins for synaptic function.
Mignogna ML, D'Adamo P. Mignogna ML, et al. Small GTPases. 2018 Mar 4;9(1-2):145-157. doi: 10.1080/21541248.2016.1277001. Epub 2017 Apr 13. Small GTPases. 2018. PMID: 28146371 Free PMC article. Review.
X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene.
Ciammola A, Carrera P, Di Fonzo A, Sassone J, Villa R, Poletti B, Ferrari M, Girotti F, Monfrini E, Buongarzone G, Silani V, Cinnante CM, Mignogna ML, D'Adamo P, Bonati MT. Ciammola A, et al. Among authors: mignogna ml. Parkinsonism Relat Disord. 2017 Nov;44:142-146. doi: 10.1016/j.parkreldis.2017.08.021. Epub 2017 Aug 26. Parkinsonism Relat Disord. 2017. PMID: 28851564
Inhibiting glycolysis rescues memory impairment in an intellectual disability Gdi1-null mouse.
D'Adamo P, Horvat A, Gurgone A, Mignogna ML, Bianchi V, Masetti M, Ripamonti M, Taverna S, Velebit J, Malnar M, Muhič M, Fink K, Bachi A, Restuccia U, Belloli S, Moresco RM, Mercalli A, Piemonti L, Potokar M, Bobnar ST, Kreft M, Chowdhury HH, Stenovec M, Vardjan N, Zorec R. D'Adamo P, et al. Among authors: mignogna ml. Metabolism. 2021 Mar;116:154463. doi: 10.1016/j.metabol.2020.154463. Epub 2020 Dec 10. Metabolism. 2021. PMID: 33309713 Free PMC article.