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

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 unknown f...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Pérez-Rius, Carla, Folgueira, Mónica, Elorza-Vidal, Xabier, Alia, A., Hoegg-Beiler, Maja B., Eeza, Muhamed N. H., Díaz, María Luz, Nunes, Virginia, Barrallo-Gimeno, Alejandro, Estévez, Raúl
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6873532/
https://ncbi.nlm.nih.gov/pubmed/31752924
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1248-5
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