Gepubliceerd in:

01-02-2013

Astrocytic MLC1 involved in brain water homeostasis and myeline integrity

Auteurs: Mohit Dubey, M. Bugiani, J.C Lodder, HD. Mansvelder, I. Boor, Marjo S. van der Knaap

Gepubliceerd in: Tijdschrift voor Kindergeneeskunde | bijlage 1/2013

Extract

MLC1 is eight transmembrane domain protein that is highly expressed in astrocytes in the brain. Human mutations in MLC1 lead to the rare genetic disorder Megalencephalic Leukoencephalopathy with subcortical cyst (MLC). Most characteristic for the disease are macrocephaly within the first year of life, slowly progressive loss of motor skills, epilepsy, and mental decline. At the cellular level countless fluid-filled vacuoles occur within myeling sheaths surrounding axons and in astrocytic endfeet. …

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