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Article

Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles.

Chemistry & biology - 1 Nov 2005

Sawkar Anu R, Adamski-Werner Sara L, Cheng Wei-Chieh, Wong Chi-Huey, Beutler Ernest, Zimmer Klaus-Peter, Kelly Jeffery W

Abstract excerpt

Gaucher disease is a lysosomal storage disorder caused by deficient glucocerebrosidase activity. We have previously shown that the cellular activity of the most common Gaucher disease-associated glucocerebrosidase variant, N370S, is increased when patient-derived cells are cultured with the chemical chaperone N-nonyl-deoxynojirimycin. Chemical chaperones stabilize proteins against misfolding, enabling their...

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Identifiers

PMID: 16298303
DOI: 10.1016/j.chembiol.2005.09.007

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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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