Article
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.
Orphanet journal of rare diseases - 26 Sept 2013
Yildiz Yildiz, Hoffmann Per, Vom Dahl Stefan, Breiden Bernadette, Sandhoff Roger, Niederau Claus, Horwitz Mia, Karlsson Stefan, Filocamo Mirella, Elstein Deborah, Beck Michael, Sandhoff Konrad, Mengel Eugen, Gonzalez Maria C, Nöthen Markus M, Sidransky Ellen, Zimran Ari, Mattheisen Manuel
Abstract excerpt
BACKGROUND: Gaucher disease (GD) is the most common inherited lysosomal storage disorder in humans, caused by mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GBA1). GD is clinically heterogeneous and although the type of GBA1 mutation plays a role in determining the type of GD, it does not explain the clinical variability seen among patients. Cumulative evidence from recent studies...
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