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Autophagy. 2013 Feb 1;9(2):234-5. doi: 10.4161/auto.22501. Epub 2012 Oct 19.

Autophagic dysfunction in a lysosomal storage disorder due to impaired proteolysis.

Author information

1
Department of Pathology, University of Michigan, Ann Arbor, MI, USA.

Abstract

Alterations in macroautophagy (hereafter referred to as "autophagy") are a common feature of lysosomal storage disorders, and have been hypothesized to play a major role in the pathogenesis of these diseases. We have recently reported multiple defects in autophagy contributing to the lysosomal storage disorder Niemann-Pick type C (NPC). These include increased formation of autophagosomes, slowed turnover of autophagosomes secondary to impaired lysosomal proteolysis, and delivery of stored lipids to the lysosome via autophagy. The study summarized here describes novel methods for the interrogation of individual stages of the autophagic pathway, and suggests mechanisms by which lipid storage may result in broader lysosomal dysfunction.

KEYWORDS:

Niemann-Pick; autophagy; cathepsin; cholesterol; lipid storage; lysosome; neurodegeneration

PMID:
23086309
PMCID:
PMC3552886
DOI:
10.4161/auto.22501
[Indexed for MEDLINE]
Free PMC Article

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