Article
Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts.
Human molecular genetics - 1 Nov 2004
Teijido Oscar, Martínez Albert, Pusch Michael, Zorzano Antonio, Soriano Eduardo, Del Río Jose Antonio, Palacín Manuel, Estévez Raúl
Abstract excerpt
Mutations in the MLC1 gene are responsible for one form of the neurological disorder megalencephalic leukoencephalopathy with subcortical cysts (MLC). The disease is a type of vacuolating myelinopathy. The biochemical properties and the function of the MLC1 protein are unknown. To characterize MLC1, we generated polyclonal antibodies. The MLC1 protein was detected in the brain, assembled into higher molecular...
Topics
Join the communities discussing this publication.