The epg5 knockout zebrafish line: a model to study Vici syndrome.

ABSTRACT: The EPG5 protein is a RAB7A effector involved in fusion specificity between autophagosomes and late endosomes or lysosomes during macroautophagy/autophagy. Mutations in the human EPG5 gene cause a rare and severe multisystem disorder called Vici syndrome. In this work, we show that zebrafish epg5^-/- mutants from both heterozygous and incrossed homozygous matings are viable and can develop to the age of sexual maturity without conspicuous defects in external appearance. In agreement with the dysfunctional autophagy of Vici syndrome, western blot revealed higher levels of the Lc3-II autophagy marker in epg5^-/- mutants with respect to wild type controls. Moreover, starvation elicited higher accumulation of Lc3-II in epg5^-/-

SUBMITTER: Meneghetti G 

PROVIDER: S-EPMC6613882 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature