Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts

By López-Hernández Tania   Sirisi Sònia   Capdevila-Nortes Xavier   Montolio Marisol   Fernández-Dueñas Victor   Scheper Gert C.   van der Knaap Marjo S.   Casquero Pilar   Ciruela Francisco   Ferrer Isidre   Nunes Virginia   Estévez Raúl  

Human Molecular Genetics, Vol. 20, Iss. 16, 2011-08 ,pp. : 3266-3277

Oxford University Press

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Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects

By Duarri Anna   Teijido Oscar   Lpez-Hernndez Tania   Scheper Gert C.   Barriere Herve   Boor Ilja   Aguado Fernando   Zorzano Antonio   Palacn Manuel   Martnez Albert   Lukacs Gergely L.   van der Knaap Marjo S.   Nunes Virginia   Estvez Ral  

Human Molecular Genetics, Vol. 17, Iss. 23, 2008-12 ,pp. : 3728-3739

Oxford University Press

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The 1 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

By Brignone Maria S.   Lanciotti Angela   Macioce Pompeo   Macchia Gianfranco   Gaetani Matteo   Aloisi Francesca   Petrucci Tamara C.   Ambrosini Elena  

Human Molecular Genetics, Vol. 20, Iss. 1, 2011-01 ,pp. : 90-103

Oxford University Press

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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

By Lanciotti Angela   Brignone Maria S.   Molinari Paola   Visentin Sergio   De Nuccio Chiara   Macchia Gianfranco   Aiello Chiara   Bertini Enrico   Aloisi Francesca   Petrucci Tamara C.   Ambrosini Elena  

Human Molecular Genetics, Vol. 21, Iss. 10, 2012-05 ,pp. : 2166-2180

Oxford University Press

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Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews

By Ben-Zeev Bruria   Levy-Nissenbaum Etgar   Lahat Hadas   Anikster Yair   Shinar Yael   Brand Nathan   Gross-Tzur Varda   MacGregor Daune   Sidi Roy   Kleta Robert   Frydman Moshe   Pras Elon  

Human Genetics, Vol. 111, Iss. 2, 2002-08 ,pp. : 214-218

Springer Publishing Company

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