Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit.
Carla Pérez-RiusMónica FolgueiraXabier Elorza-VidalA AliaMaja B Hoegg-BeilerMuhamed N H EezaMaría Luz DíazVirginia NunesAlejandro Barrallo-GimenoRaul EstevezPublished in: Orphanet journal of rare diseases (2019)
This work indicates that the two proteins involved in the pathogenesis of MLC, GlialCAM and MLC1, form a functional unit, and thus, that loss-of-function mutations in these genes cause leukodystrophy through a common pathway.