The nature of mutation in Krabbe disease.
Galactosylceramide beta-galactosidase cross reacting material was demonstrated in brain, liver, and skin fibroblasts from patients with Krabbe disease. The mutant enzyme was antigenically identical to the normal enzyme and exhibited similar electrophoretic mobility. Normal quantities of the catalytically deficient enzyme were measured in the patients' tissues by a sensitive single radial immunodiffusion assay, indicating that the mutation is in structural gene for the enzyme protein.
D000937:Antigen-Antibody Reactions; D001921:Brain / Q000201:enzymology; D002478:Cells, Cultured; D000939:Epitopes; D005696:Galactosidases / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000235:genetics*; D008099:Liver / Q000201:enzymology; D009154:Mutation; D010920:Placenta / Q000201:enzymology; D012867:Skin / Q000201:enzymology
D000939:Epitopes; D005696:Galactosidases