Document Detail

Autophagy in Gaucher disease due to saposin C deficiency.
MedLine Citation:
PMID:  20980829     Owner:  NLM     Status:  In-Process    
Gaucher disease, due to a deficit of glucosylceramidase or, rarely, of its activator saposin C, is characterized by accumulation of glucosylceramide in the lysosomes of monocyte/macrophage lineage. In our study we demonstrate that saposin C deficiency due to mutations involving a cysteine residue results in increased autophagy. Autophagy was monitored by LC3 analysis and confirmed by electron microscopy; we observed a correlation among saposin C mutation, Gaucher phenotype and increased autophagy.
Massimo Tatti; Marialetizia Motta; Rosa Salvioli
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Publication Detail:
Type:  Journal Article     Date:  2011-01-01
Journal Detail:
Title:  Autophagy     Volume:  7     ISSN:  1554-8635     ISO Abbreviation:  Autophagy     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2010-11-30     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101265188     Medline TA:  Autophagy     Country:  United States    
Other Details:
Languages:  eng     Pagination:  94-5     Citation Subset:  IM    
Department of Haematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Roma, Italy.
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