Format

Send to

Choose Destination
See comment in PubMed Commons below
Autophagy. 2013 Aug;9(8):1258-62. doi: 10.4161/auto.24856. Epub 2013 May 14.

Role of Epg5 in selective neurodegeneration and Vici syndrome.

Author information

1
State Key Laboratory of Biomacromolecules; Institute of Biophysics; Chinese Academy of Sciences; Beijing, China.

Abstract

Autophagy activity is essential for the survival of neural cells. Impairment of autophagy has been implicated in the pathogenesis of neurodegenerative disorders. Unlike the massive neuron loss in mice deficient for autophagy genes essential for autophagosome formation, we demonstrated that mice deficient for the metazoan-specific autophagy gene Epg5 develop selective neuronal damage and exhibit key characteristics of amyotrophic lateral sclerosis. Epg5 deficiency blocks the maturation of autophagosomes into degradative autolysosomes, slows endocytic degradation and also impairs endocytic recycling. Recessive mutations in human EPG5 have recently been causally associated with the multisystem disorder Vici syndrome. Here we show that while Epg5 knockout mice display some features of Vici syndrome, many phenotypes are absent.

KEYWORDS:

Epg5; Vici syndrome; autophagosome; autophagy; neurodegeneration

PMID:
23674064
PMCID:
PMC3748201
DOI:
10.4161/auto.24856
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Taylor & Francis Icon for PubMed Central
    Loading ...
    Support Center