Document Detail


Autophagy in Gaucher disease due to saposin C deficiency.
MedLine Citation:
PMID:  20980829     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
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.
Authors:
Massimo Tatti; Marialetizia Motta; Rosa Salvioli
Related Documents :
24386489 - Association analysis of genetic variants in the myosin ixb gene in acute pancreatitis.
12638939 - Identification and characterization of novel mutations of the aspartoacylase gene in no...
24782339 - Genetic variations in slc3a2/cd98 gene as prognosis predictors in non-small cell lung c...
23250129 - Diversity of arsacs mutations in french-canadians.
23069279 - Kit gene exon 11 mutations in canine malignant melanoma.
24407599 - Association between polymorphisms in the promoter region of interleukin-10 and suscepti...
16442619 - Absence of the jak2 mutation v617f in cd34+ hematopoietic stem and progenitor cells fro...
8409359 - Classification of hypotheses on the advantage of amphimixis.
10762389 - A quantitative genetic analysis of phenotypic plasticity of diapause induction in the c...
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    
Affiliation:
Department of Haematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Roma, Italy.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Reduction of Pten dose leads to neoplastic development in multiple organs of Pten (shRNA) mice.
Next Document:  Regulation of autophagy by extracellular matrix glycoproteins in HeLa cells.