[Lysosomal beta-galactosidase properties and the molecular genetics of GM1 gangliosidosis].
Review of the data is presented on the hereditary disease gangliosidosis GM1 and on the enzyme beta-galactosidose, deficiency of which is responsible for this disease. Heterogeneity of the disease and existence of various forms of beta-galactosidase are considered. Possible correlation is discussed between the defects of the enzyme forms detected and the type of the disease.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D004789:Enzyme Activation; D005677:G(M1) Ganglioside / Q000235:genetics*; D005696:Galactosidases / Q000378:metabolism*; D005732:Gangliosides / Q000235:genetics*; D005733:Gangliosidoses / Q000145:classification / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007700:Kinetics; D008099:Liver / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology*; D008967:Molecular Biology; D008970:Molecular Weight; D009154:Mutation; D001616:beta-Galactosidase / Q000145:classification / Q000235:genetics / Q000378:metabolism*
D005732:Gangliosides; D005677:G(M1) Ganglioside; D005696:Galactosidases; D001616:beta-Galactosidase
Svoistva lizosomal'noi beta-galaktozidazy i molekuliarnaia generika gangliozidozov GM1.