Article
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes.
Human molecular genetics - 15 Apr 2016
Lanciotti Angela, Brignone Maria Stefania, Visentin Sergio, De Nuccio Chiara, Catacuzzeno Luigi, Mallozzi Cinzia, Petrini Stefania, Caramia Martino, Veroni Caterina, Minnone Gaetana, Bernardo Antonietta, Franciolini Fabio, Pessia Mauro, Bertini Enrico, Petrucci Tamara Corinna, Ambrosini Elena
Abstract excerpt
Mutations in the MLC1 gene, which encodes a protein expressed in brain astrocytes, are the leading cause of MLC, a rare leukodystrophy characterized by macrocephaly, brain edema, subcortical cysts, myelin and astrocyte vacuolation. Although recent studies indicate that MLC1 protein is implicated in the regulation of cell volume changes, the exact role of MLC1 in brain physiology and in the pathogenesis of MLC...
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