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PMID: 4083278 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Glucocerebrosidase "processing" and gene expression in various forms of Gaucher disease.

American journal of human genetics ·Vol. 37 ·No. 6 ·1985-11-00 ·Pages 1062-70

Beutler E, Kuhl W, Sorge J

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.

MeSH Terms
Cell Line Dithiothreitol/pharmacology Female Fibroblasts/enzymology Gaucher Disease/genetics Genes Glucosidases/genetics Glucosylceramidase/genetics,isolation & purification,metabolism Humans Molecular Weight Placenta/enzymology Pregnancy RNA Processing, Post-Transcriptional Skin/enzymology Transcription, Genetic
Chemicals
Glucosidases Glucosylceramidase Dithiothreitol
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Beutler E
Kuhl W
Sorge J
References (13)
13 references, click to expand
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1985-11-00
Pages
1062-70
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1684731
Subset
IM
Grants
NCRR NIH HHS · RR00833 · United States
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