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Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model.
Duarri A, Lopez de Heredia M, Capdevila-Nortes X, Ridder MC, Montolio M, López-Hernández T, Boor I, Lien CF, Hagemann T, Messing A, Gorecki DC, Scheper GC, Martínez A, Nunes V, van der Knaap MS, Estévez R. Duarri A, et al. Among authors: nunes v. Neurobiol Dis. 2011 Jul;43(1):228-38. doi: 10.1016/j.nbd.2011.03.015. Epub 2011 Apr 3. Neurobiol Dis. 2011. PMID: 21440627 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: nunes v. 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: nunes v. 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: nunes v. 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
GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit.
Jeworutzki E, López-Hernández T, Capdevila-Nortes X, Sirisi S, Bengtsson L, Montolio M, Zifarelli G, Arnedo T, Müller CS, Schulte U, Nunes V, Martínez A, Jentsch TJ, Gasull X, Pusch M, Estévez R. Jeworutzki E, et al. Among authors: nunes v. Neuron. 2012 Mar 8;73(5):951-61. doi: 10.1016/j.neuron.2011.12.039. Neuron. 2012. PMID: 22405205 Free PMC article.
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: nunes v. 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.
Digenic Inheritance in Cystinuria Mouse Model.
Espino M, Font-Llitjós M, Vilches C, Salido E, Prat E, López de Heredia M, Palacín M, Nunes V. Espino M, et al. Among authors: nunes v. PLoS One. 2015 Sep 11;10(9):e0137277. doi: 10.1371/journal.pone.0137277. eCollection 2015. PLoS One. 2015. PMID: 26359869 Free PMC 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: nunes v. Hum Mol Genet. 2017 Jul 1;26(13):2436-2450. doi: 10.1093/hmg/ddx134. Hum Mol Genet. 2017. PMID: 28398517
573 results