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Identification of the GlialCAM interactome: the G protein-coupled receptors GPRC5B and GPR37L1 modulate megalencephalic leukoencephalopathy proteins.
Alonso-Gardón M, Elorza-Vidal X, Castellanos A, La Sala G, Armand-Ugon M, Gilbert A, Di Pietro C, Pla-Casillanis A, Ciruela F, Gasull X, Nunes V, Martínez A, Schulte U, Cohen-Salmon M, Marazziti D, Estévez R. Alonso-Gardón M, et al. Among authors: estevez r. Hum Mol Genet. 2021 Aug 12;30(17):1649-1665. doi: 10.1093/hmg/ddab155. Hum Mol Genet. 2021. PMID: 34100078 Free PMC article.
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects.
Duarri A, Teijido O, López-Hernández T, Scheper GC, Barriere H, Boor I, Aguado F, Zorzano A, Palacín M, Martínez A, Lukacs GL, van der Knaap MS, Nunes V, Estévez R. Duarri A, et al. Among authors: estevez r. Hum Mol Genet. 2008 Dec 1;17(23):3728-39. doi: 10.1093/hmg/ddn269. Epub 2008 Aug 30. Hum Mol Genet. 2008. PMID: 18757878 Free PMC article.
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.
López-Hernández T, Ridder MC, Montolio M, Capdevila-Nortes X, Polder E, Sirisi S, Duarri A, Schulte U, Fakler B, Nunes V, Scheper GC, Martínez A, Estévez R, van der Knaap MS. López-Hernández T, et al. Among authors: estevez r. Am J Hum Genet. 2011 Apr 8;88(4):422-32. doi: 10.1016/j.ajhg.2011.02.009. Epub 2011 Mar 17. Am J Hum Genet. 2011. PMID: 21419380 Free PMC article.
Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts.
López-Hernández T, Sirisi S, Capdevila-Nortes X, Montolio M, Fernández-Dueñas V, Scheper GC, van der Knaap MS, Casquero P, Ciruela F, Ferrer I, Nunes V, Estévez R. López-Hernández T, et al. Among authors: estevez r. Hum Mol Genet. 2011 Aug 15;20(16):3266-77. doi: 10.1093/hmg/ddr238. Epub 2011 May 30. Hum Mol Genet. 2011. PMID: 21624973
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.
Sirisi S, Folgueira M, López-Hernández T, Minieri L, Pérez-Rius C, Gaitán-Peñas H, Zang J, Martínez A, Capdevila-Nortes X, De La Villa P, Roy U, Alia A, Neuhauss S, Ferroni S, Nunes V, Estévez R, Barrallo-Gimeno A. Sirisi S, et al. Among authors: estevez r. Hum Mol Genet. 2014 Oct 1;23(19):5069-86. doi: 10.1093/hmg/ddu231. Epub 2014 May 12. Hum Mol Genet. 2014. PMID: 24824219 Free article.
Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy.
Sirisi S, Elorza-Vidal X, Arnedo T, Armand-Ugón M, Callejo G, Capdevila-Nortes X, López-Hernández T, Schulte U, Barrallo-Gimeno A, Nunes V, Gasull X, Estévez R. Sirisi S, et al. Among authors: estevez r. Hum Mol Genet. 2017 Jul 1;26(13):2436-2450. doi: 10.1093/hmg/ddx134. Hum Mol Genet. 2017. PMID: 28398517
Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit.
Pérez-Rius C, Folgueira M, Elorza-Vidal X, Alia A, Hoegg-Beiler MB, Eeza MNH, Díaz ML, Nunes V, Barrallo-Gimeno A, Estévez R. Pérez-Rius C, et al. Among authors: estevez r. Orphanet J Rare Dis. 2019 Nov 21;14(1):268. doi: 10.1186/s13023-019-1248-5. Orphanet J Rare Dis. 2019. PMID: 31752924 Free PMC article.
Megalencephalic leukoencephalopathy with subcortical cysts is a developmental disorder of the gliovascular unit.
Gilbert A, Elorza-Vidal X, Rancillac A, Chagnot A, Yetim M, Hingot V, Deffieux T, Boulay AC, Alvear-Perez R, Cisternino S, Martin S, Taïb S, Gelot A, Mignon V, Favier M, Brunet I, Declèves X, Tanter M, Estevez R, Vivien D, Saubaméa B, Cohen-Salmon M. Gilbert A, et al. Among authors: estevez r. Elife. 2021 Nov 1;10:e71379. doi: 10.7554/eLife.71379. Elife. 2021. PMID: 34723793 Free PMC article.
GPR37 Receptors and Megalencephalic Leukoencephalopathy with Subcortical Cysts.
Pla-Casillanis A, Ferigle L, Alonso-Gardón M, Xicoy-Espaulella E, Errasti-Murugarren E, Marazziti D, Estévez R. Pla-Casillanis A, et al. Among authors: estevez r. Int J Mol Sci. 2022 May 16;23(10):5528. doi: 10.3390/ijms23105528. Int J Mol Sci. 2022. PMID: 35628339 Free PMC article. Review.
212 results