Article
Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts.
Human molecular genetics - 15 Aug 2011
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
Abstract excerpt
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy caused by mutations in MLC1 or GLIALCAM. The GLIALCAM gene product functions as an MLC1 beta-subunit. We aim to further clarify the molecular mechanisms of MLC caused by mutations in MLC1 or GLIALCAM. For this purpose, we analyzed a human post-mortem brain obtained from an MLC patient, who was homozygous for a missense...
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