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Article

Use of fluorescent substrates for characterization of Gaucher disease mutations.

Blood cells, molecules & diseases - 1 Jan 2000

Ron Idit, Dagan Arie, Gatt Shimon, Pasmanik-Chor Metzada, Horowitz Mia

Abstract excerpt

Gaucher disease results from impaired activity of the lysosomal enzyme beta-glucocerebrosidase. More than 200 mutations within the glucocerebrosidase gene have been associated with this disease. In this study we tested the effect of several mutations (K157Q, D140H, E326K, D140H+E326K, V394L and R463C) on RNA stability, protein stability and activity toward four different fluorescent substrates (LR-12-GC,...

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Identifiers

PMID: 15916907
DOI: 10.1016/j.bcmd.2005.03.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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