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ABSTRACT: Background
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare form of infantile-onset leukodystrophy. The disorder is caused primarily by mutations of MLC1 that leads to a series of phenotypic outcomes including vacuolation of myelin and astrocytes, subcortical cysts, brain edema, and macrocephaly. Recent studies have indicated that functional interactions among MLC1, GlialCAM, and ClC-2 channels play key roles in the regulation of neuronal, glial and vascular homeostasis. However, the physiological role of MLC1 in cellular homeostatic communication remains poorly understood. In the present study, we investigated the cellular function of MLC1 and its effects on cell-cell interactions.Methods
MLC1-dependent cellular morphology and motility were analyz
SUBMITTER: Hwang J
PROVIDER: S-EPMC6938022 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature