Glucocerebrosidase "processing" and gene expression in various forms of Gaucher disease.
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.
D002460:Cell Line; D004229:Dithiothreitol / Q000494:pharmacology; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005776:Gaucher Disease / Q000235:genetics*; D005796:Genes; D005959:Glucosidases / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics* / Q000302:isolation & purification / Q000378:metabolism; D006801:Humans; D008970:Molecular Weight; D010920:Placenta / Q000201:enzymology; D011247:Pregnancy; D012323:RNA Processing, Post-Transcriptional; D012867:Skin / Q000201:enzymology; D014158:Transcription, Genetic
D005959:Glucosidases; D005962:Glucosylceramidase; D004229:Dithiothreitol