268 related articles for article (PubMed ID: 25382142)
1. 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; 77(1):114-31. PubMed ID: 25382142
[TBL] [Abstract][Full Text] [Related]
2. Megalencephalic leukoencephalopathy with cysts: the
Bugiani M; Dubey M; Breur M; Postma NL; Dekker MP; Ter Braak T; Boschert U; Abbink TEM; Mansvelder HD; Min R; van Weering JRT; van der Knaap MS
Ann Clin Transl Neurol; 2017 Jul; 4(7):450-465. PubMed ID: 28695146
[TBL] [Abstract][Full Text] [Related]
3. 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; 134(Pt 11):3342-54. PubMed ID: 22006981
[TBL] [Abstract][Full Text] [Related]
4. Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis.
van der Knaap MS; Boor I; Estévez R
Lancet Neurol; 2012 Nov; 11(11):973-85. PubMed ID: 23079554
[TBL] [Abstract][Full Text] [Related]
5. 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; 22(21):4405-16. PubMed ID: 23793458
[TBL] [Abstract][Full Text] [Related]
6. Astrocyte-mediated infantile-onset leukoencephalopathy mouse model.
Sugio S; Tohyama K; Oku S; Fujiyoshi K; Yoshimura T; Hikishima K; Yano R; Fukuda T; Nakamura M; Okano H; Watanabe M; Fukata M; Ikenaka K; Tanaka KF
Glia; 2017 Jan; 65(1):150-168. PubMed ID: 27748972
[TBL] [Abstract][Full Text] [Related]
7. 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; 23(19):5069-86. PubMed ID: 24824219
[TBL] [Abstract][Full Text] [Related]
8. 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
Hum Mol Genet; 2011 Aug; 20(16):3266-77. PubMed ID: 21624973
[TBL] [Abstract][Full Text] [Related]
9. 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
Neurobiol Dis; 2011 Jul; 43(1):228-38. PubMed ID: 21440627
[TBL] [Abstract][Full Text] [Related]
10. 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
Hum Mol Genet; 2017 Jul; 26(13):2436-2450. PubMed ID: 28398517
[TBL] [Abstract][Full Text] [Related]
11. 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; 56():307-21. PubMed ID: 23851226
[TBL] [Abstract][Full Text] [Related]
12. Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective.
Estévez R; Elorza-Vidal X; Gaitán-Peñas H; Pérez-Rius C; Armand-Ugón M; Alonso-Gardón M; Xicoy-Espaulella E; Sirisi S; Arnedo T; Capdevila-Nortes X; López-Hernández T; Montolio M; Duarri A; Teijido O; Barrallo-Gimeno A; Palacín M; Nunes V
Eur J Med Genet; 2018 Jan; 61(1):50-60. PubMed ID: 29079544
[TBL] [Abstract][Full Text] [Related]
13. GlialCAM/MLC1 modulates LRRC8/VRAC currents in an indirect manner: Implications for megalencephalic leukoencephalopathy.
Elorza-Vidal X; Sirisi S; Gaitán-Peñas H; Pérez-Rius C; Alonso-Gardón M; Armand-Ugón M; Lanciotti A; Brignone MS; Prat E; Nunes V; Ambrosini E; Gasull X; Estévez R
Neurobiol Dis; 2018 Nov; 119():88-99. PubMed ID: 30076890
[TBL] [Abstract][Full Text] [Related]
14. Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations.
Lanciotti A; Brignone MS; Molinari P; Visentin S; De Nuccio C; Macchia G; Aiello C; Bertini E; Aloisi F; Petrucci TC; Ambrosini E
Hum Mol Genet; 2012 May; 21(10):2166-80. PubMed ID: 22328087
[TBL] [Abstract][Full Text] [Related]
15. Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients.
Mahmoud IG; Mahmoud M; Refaat M; Girgis M; Waked N; El Badawy A; Selim L; Hassan S; Abdel Aleem AK
Pediatr Neurol; 2014 Feb; 50(2):140-8. PubMed ID: 24315536
[TBL] [Abstract][Full Text] [Related]
16. Cerebellar Astrocyte Transduction as Gene Therapy for Megalencephalic Leukoencephalopathy.
Sánchez A; García-Lareu B; Puig M; Prat E; Ruberte J; Chillón M; Nunes V; Estévez R; Bosch A
Neurotherapeutics; 2020 Oct; 17(4):2041-2053. PubMed ID: 32372403
[TBL] [Abstract][Full Text] [Related]
17. Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction.
Hoegg-Beiler MB; Sirisi S; Orozco IJ; Ferrer I; Hohensee S; Auberson M; Gödde K; Vilches C; de Heredia ML; Nunes V; Estévez R; Jentsch TJ
Nat Commun; 2014 Mar; 5():3475. PubMed ID: 24647135
[TBL] [Abstract][Full Text] [Related]
18. 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; 9(6):. PubMed ID: 32521795
[TBL] [Abstract][Full Text] [Related]
19. Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts.
Kariminejad A; Rajaee A; Ashrafi MR; Alizadeh H; Tonekaboni SH; Malamiri RA; Ghofrani M; Karimzadeh P; Mohammadi MM; Baghalshooshtari A; Bozorgmehr B; Kariminejad MH; Postma N; Abbink TE; van der Knaap MS
Eur J Med Genet; 2015 Feb; 58(2):71-4. PubMed ID: 25497041
[TBL] [Abstract][Full Text] [Related]
20. 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
Am J Hum Genet; 2011 Apr; 88(4):422-32. PubMed ID: 21419380
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]