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223 related items for PubMed ID: 15367490

  • 1. Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts.
    Teijido O, Martínez A, Pusch M, Zorzano A, Soriano E, Del Río JA, Palacín M, Estévez R.
    Hum Mol Genet; 2004 Nov 01; 13(21):2581-94. PubMed ID: 15367490
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  • 2. The brain-specific protein MLC1 implicated in megalencephalic leukoencephalopathy with subcortical cysts is expressed in glial cells in the murine brain.
    Schmitt A, Gofferje V, Weber M, Meyer J, Mössner R, Lesch KP.
    Glia; 2003 Dec 01; 44(3):283-95. PubMed ID: 14603469
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  • 4. 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.
    Hum Mol Genet; 2014 Oct 01; 23(19):5069-86. PubMed ID: 24824219
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  • 6. MLC1 trafficking and membrane expression in astrocytes: role of caveolin-1 and phosphorylation.
    Lanciotti A, Brignone MS, Camerini S, Serafini B, Macchia G, Raggi C, Molinari P, Crescenzi M, Musumeci M, Sargiacomo M, Aloisi F, Petrucci TC, Ambrosini E.
    Neurobiol Dis; 2010 Mar 01; 37(3):581-95. PubMed ID: 19931615
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  • 8. Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts.
    Petrini S, Minnone G, Coccetti M, Frank C, Aiello C, Cutarelli A, Ambrosini E, Lanciotti A, Brignone MS, D'Oria V, Strippoli R, De Benedetti F, Bertini E, Bracci-Laudiero L.
    Mol Cell Neurosci; 2013 Sep 01; 56():307-21. PubMed ID: 23851226
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  • 9. Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.
    Ilja Boor PK, de Groot K, Mejaski-Bosnjak V, Brenner C, van der Knaap MS, Scheper GC, Pronk JC.
    Hum Mutat; 2006 Jun 01; 27(6):505-12. PubMed ID: 16652334
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  • 10. Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation.
    Ridder MC, Boor I, Lodder JC, Postma NL, Capdevila-Nortes X, Duarri A, Brussaard AB, Estévez R, Scheper GC, Mansvelder HD, van der Knaap MS.
    Brain; 2011 Nov 01; 134(Pt 11):3342-54. PubMed ID: 22006981
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  • 11. Biochemical characterization of MLC1 protein in astrocytes and its association with the dystrophin-glycoprotein complex.
    Ambrosini E, Serafini B, Lanciotti A, Tosini F, Scialpi F, Psaila R, Raggi C, Di Girolamo F, Petrucci TC, Aloisi F.
    Mol Cell Neurosci; 2008 Mar 01; 37(3):480-93. PubMed ID: 18165104
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  • 12. Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1.
    Montagna G, Teijido O, Eymard-Pierre E, Muraki K, Cohen B, Loizzo A, Grosso P, Tedeschi G, Palacín M, Boespflug-Tanguy O, Bertini E, Santorelli FM, Estévez R.
    Hum Mutat; 2006 Mar 01; 27(3):292. PubMed ID: 16470554
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  • 13. Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.
    Leegwater PA, Boor PK, Yuan BQ, van der Steen J, Visser A, Könst AA, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS.
    Hum Genet; 2002 Mar 01; 110(3):279-83. PubMed ID: 11935341
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  • 14. Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents.
    Capdevila-Nortes X, López-Hernández T, Apaja PM, López de Heredia M, Sirisi S, Callejo G, Arnedo T, Nunes V, Lukacs GL, Gasull X, Estévez R.
    Hum Mol Genet; 2013 Nov 01; 22(21):4405-16. PubMed ID: 23793458
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  • 15. Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population.
    Yiş U, Scheper GC, Uran N, Unalp A, Cakmakçi H, Hiz-Kurul S, Dirik E, van der Knaap MS.
    Turk J Pediatr; 2010 Nov 01; 52(2):179-83. PubMed ID: 20560255
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  • 16. 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.
    Hum Mol Genet; 2008 Dec 01; 17(23):3728-39. PubMed ID: 18757878
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  • 17. Megalencephalic Leukoencephalopathy with Subcortical Cysts Disease-Linked MLC1 Protein Favors Gap-Junction Intercellular Communication by Regulating Connexin 43 Trafficking in Astrocytes.
    Lanciotti A, Brignone MS, Belfiore M, Columba-Cabezas S, Mallozzi C, Vincentini O, Molinari P, Petrucci TC, Visentin S, Ambrosini E.
    Cells; 2020 Jun 08; 9(6):. PubMed ID: 32521795
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  • 18. Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle.
    Dubey M, Bugiani M, Ridder MC, Postma NL, Brouwers E, Polder E, Jacobs JG, Baayen JC, Klooster J, Kamermans M, Aardse R, de Kock CP, Dekker MP, van Weering JR, Heine VM, Abbink TE, Scheper GC, Boor I, Lodder JC, Mansvelder HD, van der Knaap MS.
    Ann Neurol; 2015 Jan 08; 77(1):114-31. PubMed ID: 25382142
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  • 19. The beta1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesis.
    Brignone MS, Lanciotti A, Macioce P, Macchia G, Gaetani M, Aloisi F, Petrucci TC, Ambrosini E.
    Hum Mol Genet; 2011 Jan 01; 20(1):90-103. PubMed ID: 20926452
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  • 20. Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesis.
    Brignone MS, Lanciotti A, Visentin S, De Nuccio C, Molinari P, Camerini S, Diociaiuti M, Petrini S, Minnone G, Crescenzi M, Laudiero LB, Bertini E, Petrucci TC, Ambrosini E.
    Neurobiol Dis; 2014 Jun 01; 66(100):1-18. PubMed ID: 24561067
    [Abstract] [Full Text] [Related]

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