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...
Topics
- Alleles
- Blotting, Northern
- Blotting, Western
- Chromatography, Affinity
- DNA
- Glucosylceramidase
- Glycoproteins
- Hot Temperature
- Humans
- Inositol
- Mutagenesis, Site-Directed