Biochemical basis of late-onset neurolipidoses.
The occurrence and the tremendous phenotypic variability of late-onset neurolipidosis variants are explained on the basis of a simple kinetic model that describes the correlation between residual activity of a deficient lysosomal enzyme and the degradation rate of its substrate in the lysosome.
Conzelmann
E
E
Physiologisch-Chemisches Institut, Universität Würzburg, BRD.
Sandhoff
K
K
D000328:Adult; D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism*; D002478:Cells, Cultured; D002648:Child; D004796:Clinical Enzyme Tests; D005347:Fibroblasts / Q000378:metabolism; D006017:Glycolipids / Q000378:metabolism; D006801:Humans; D007223:Infant; D007700:Kinetics; D007962:Leukocytes / Q000378:metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism*; D008247:Lysosomes / Q000201:enzymology*; D008954:Models, Biological; D010641:Phenotype
D006017:Glycolipids