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Article

Characterization of human glucocerebrosidase from different mutant alleles.

The Journal of biological chemistry - 25 Feb 1991

Ohashi T, Hong C M, Weiler S, Tomich J M, Aerts J M, Tager J M, Barranger J A

Abstract excerpt

Human cDNA was mutagenized to duplicate six naturally occurring mutations in the gene for glucocere-brosidase. The mutant genes were expressed in NIH 3T3 cells. The abnormal human enzymes were purified by immunoaffinity chromatography and characterized. The Asn370----Ser mutant protein differed from normal enzyme in its inhibition by both conduritol B epoxide and glucosphingosine demonstrating that the 370 mutant...

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PMID: 1704891

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

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