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

Por Duarri, Anna, Teijido, Oscar, López-Hernández, Tania, Scheper, Gert C., Barriere, Herve, Boor, Ilja, Aguado, Fernando, Zorzano, Antonio, Palacín, Manuel, Martínez, Albert, Lukacs, Gergely L., van der Knaap, Marjo S., Nunes, Virginia, Estévez, Raúl
Publicado em 2008

Defective Glial Maturation in Vanishing White Matter Disease

Por Bugiani, Marianna, Boor, Ilja, van Kollenburg, Barbara, Postma, Nienke, Polder, Emiel, van Berkel, Carola, van Kesteren, Ronald E., Windrem, Martha S., Hol, Elly M., Scheper, Gert C., Goldman, Steven A., van der Knaap, Marjo S.
Publicado em 2011

MLC1 is associated with the Dystrophin-Glycoprotein Complex at astrocytic endfeet

Por Boor, Ilja, Nagtegaal, Machiel, Kamphorst, Wouter, van der Valk, Paul, Pronk, Jan C., van Horssen, Jack, Dinopoulos, Argirios, Bove, Kevin E., Pascual-Castroviejo, Ignacio, Muntoni, Francesco, Estévez, Raúl, Scheper, Gert C., van der Knaap, Marjo S.
Publicado em 2007

Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model

Por Duarri, Anna, de Heredia, Miguel Lopez, Capdevila-Nortes, Xavier, Ridder, Margreet C., Montolio, Marisol, López-Hernández, Tania, Boor, Ilja, Lien, Chun-Fu, Hagemann, Tracy, Messing, Albee, Gorecki, Dariusz C., Scheper, Gert C., Martínez, Albert, Nunes, Virginia, van der Knaap, Marjo S., Estévez, Raúl
Publicado em 2011