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Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-g...
Diaz, G.A.; Gelb, B.D.; Risch, N.; Nygaard, T.G.; Frisch, A.; Cohen, I.J.; Miranda, C.S.; Amaral, O.; Maire, I.; Poenaru, L.; Caillaud, C.; Weizberg, M.Type 1 Gaucher disease (GD), a non-neuronopathic lysosomal storage disorder, results from the deficient activity of acid beta-glucosidase (GBA). Type 1 disease is panethnic but is more prevalent in individuals of Ashkenazi Jewish (AJ) descent. Of the causative GBA mutations, N370S is particularly frequent in the AJ population, (q approximately .03), whereas the 84GG insertion (q approximately .003) occurs exclu...
Gaucher disease: expression and characterization of mild and severe acid beta-g...
Amaral, O.; Marcão, A.; Sá Miranda, M.; Desnick, R.J.; Grace, M.E.Type 1 Gaucher disease (GD), the most prevalent lysosomal storage disease, results from the deficient activity of acid alpha-glucosidase. Molecular analysis of 12 unrelated Portuguese patients with type 1 GD identified three novel acid â-glucosidase mutations (F109V, W184R and R395P), as well as three previously reported, but uncharacterized, lesions (R359Q, G377S and N396T). The type 1 probands were either het...
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