Dataset Information
Glycosphingolipid storage in Fabry mice extends beyond globotriaosylceramide and is affected by ABCB1 depletion.
Ontology highlight
ABSTRACT:
SUBMITTER: Kamani MA
PROVIDER: S-EPMC5242178 | biostudies-literature | 2016 Dec
REPOSITORIES: biostudies-literature
Publications
Glycosphingolipid storage in Fabry mice extends beyond globotriaosylceramide and is affected by ABCB1 depletion.
Future science OA 20161013 4
<h4>Aim</h4>Fabry disease is caused by α-galactosidase A deficiency leading to accumulation of globotriaosylceramide (Gb<sub>3</sub>) in tissues. Clinical manifestations do not appear to correlate with total Gb<sub>3</sub> levels. Studies examining tissue distribution of specific acyl chain species of Gb<sub>3</sub> and upstream glycosphingolipids are lacking.<h4>Material & methods/results</h4>Thorough characterization of the Fabry mouse sphingolipid profile by LC-MS revealed unique Gb<sub>3</su ...[more]