Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit

Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit

Abstract Background Megalencephalic Leukoencephalopathy with subcortical Cysts (MLC) is a rare type of leukodystrophy characterized by astrocyte and myelin vacuolization, epilepsy and early-onset macrocephaly. MLC is caused by mutations in MLC1 or GLIALCAM, coding for two membrane proteins with an u...

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Bibliographic Details
Main Authors: Carla Pérez-Rius, Mónica Folgueira, Xabier Elorza-Vidal, A. Alia, Maja B. Hoegg-Beiler, Muhamed N. H. Eeza, María Luz Díaz, Virginia Nunes, Alejandro Barrallo-Gimeno, Raúl Estévez
Format: Article
Language:English
Published: BMC 2019-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
MLC1
GLIALCAM
Megalencephalic leukoencephalopathy
Myelin
Astrocyte
Zebrafish
Online Access:http://link.springer.com/article/10.1186/s13023-019-1248-5

Internet

http://link.springer.com/article/10.1186/s13023-019-1248-5

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