To see a world in a grain of sand: elucidating the pathophysiology of Anderson-Fabry disease through investigations of a cellular model.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 19180148.
- Also identified by DOI 10.1038/ki.2008.606.
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Abstract
Thomaidis and colleagues have created a cellular model of Anderson-Fabry disease by 'silencing' alpha-galactosidase A (AGAL) activity in human tubular epithelial cells. Increased membrane globotriaosylceramide (Gb3/CD77) expression was observed; it is suggested that this finding may be potentially useful as a surrogate marker of disease severity. Decreased membrane Gb3/CD77 expression was observed following agalsidase-alpha treatment, providing evidence of changes in cellular phenotype in response to enzyme therapy.
Medical subject headings
- Epithelial Cells
- Fabry Disease
- Models, Biological
- alpha-Galactosidase