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DTSTART:20171029T010000
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DTSTART;TZID=Europe/Madrid:20170113T130000
DTEND;TZID=Europe/Madrid:20170113T140000
DTSTAMP:20260407T074005
CREATED:20231106T152830Z
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UID:208687-1484312400-1484316000@katedra.eus
SUMMARY:Achucarro Seminars: A conserved role for Mlc1 in regulating the surface localization of Glialcam from fish to humans
DESCRIPTION:Xehetasunak \n\n\n\n\nData eta ordua:  \n\n\n\n\n\n\n\n\n\nEgoitza \n\n\n\n\n\n\n\n\nResearcher: Alejandro Barrallo (University of Barcelona) \n\n\n\nAbstract: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a leukodystrophy characterized by myelin vacuolization and caused by mutations in MLC1 or GLIALCAM. Patients with recessive mutations in either MLC1 or GLIALCAM show the same clinical phenotype. It has been shown that GLIALCAM is necessary for the correct targeting of MLC1 to the membrane at cell junctions\, but its own localization was independent of MLC1 in vitro. However\, recent studies in Mlc1 ko mice have shown that GlialCAM is mislocalized in glial cells. In order to investigate whether the relationship between Mlc1 and GlialCAM is species-specific\, we first identified MLC-related genes in zebrafish and generated an mlc1 ko zebrafish. We have characterized mlc1 ko zebrafish both functionally and histologically and compared the phenotype with that of the Mlc1 ko mice. In mlc1 ko zebrafish\, as in Mlc1 ko mice\, Glialcam is mislocalized. Re-examination of a brain biopsy from an MLC patient indicates that GLIALCAM is also mislocalized in Bergmann glia in the cerebellum. In vitro\, impaired localization of GlialCAM was observed in astrocyte cultures from Mlc1 ko mouse only in the presence of elevated potassium levels\, which mimics neuronal activity. In summary\, here we demonstrate an evolutionary conserved role for MLC1 in regulating glial surface levels of GLIALCAM\, and this interrelationship explains why patients with mutations in either gene (MLC1 or GLIALCAM) share the same clinical phenotype.
URL:https://katedra.eus/en/events/achucarro-seminars-a-conserved-role-for-mlc1-in-regulating-the-surface-localization-of-glialcam-from-fish-to-humans/
LOCATION:Achucarro Basque Center for Neuroscience\, Bizkaia Science and Technology Park Building 205\, Zamudio
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