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Article

Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations.

Blood cells, molecules & diseases - 1 Jan 2000

Alfonso Pilar, Pampín Sandra, Estrada Jorge, Rodríguez-Rey José Carlos, Giraldo Pilar, Sancho Javier, Pocoví Miguel

Abstract excerpt

Gaucher disease (GD) is a disorder of glycosphinglipid metabolism caused by deficiency of lysosomal acid beta-glucosidase (GC), resulting in progressive deposition of glucosylceramide in macrophages. The glucose analogue, N-butyl-deoxynojirimycin (NB-DNJ, Miglustat), is an inhibitor of the ceramide-specific glucosyltransferase (CSG) which catalyzes the first step of glycosphingolipids biosynthesis and is...

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Identifiers

PMID: 16039881
DOI: 10.1016/j.bcmd.2005.05.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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