Glucocerebrosidase "processing" and Gene Expression in Various Forms of Gaucher Disease

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1985 Nov 1

PMID 4083278

Citations 2

Authors

E Beutler

W KUHL

J Sorge

Affiliations

Soon will be listed here.

Abstract

Immunoblots were prepared using extracts of fibroblasts derived from five controls and from four unrelated patients with type I, three with type II, and two with type III Gaucher disease. Five monoclonal antisera and two rabbit sera, crude and affinity purified, were utilized to detect antigen transferred to nitrocellulose paper. Only a band of 63,000 molecular weight (Mr) was consistently detected. We found no 56-K band either in normal or in Gaucher disease fibroblast extracts. Thus, using a variety of antisera, we are unable to verify the claim that the types of Gaucher disease can be differentiated from one another by immunoblotting.

Citing Articles

Glucocerebrosidase processing in normal fibroblasts and in fibroblasts from patients with type I, type II, and type III Gaucher disease.

Beutler E, KUHL W Proc Natl Acad Sci U S A. 1986; 83(19):7472-4.

PMID: 3463977 PMC: 386740. DOI: 10.1073/pnas.83.19.7472.

Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form.

Masuno M, Tomatsu S, Sukegawa K, Orii T Hum Genet. 1990; 84(2):203-6.

PMID: 1967589 DOI: 10.1007/BF00208943.

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