title: Niemann-Pick C disease: cystine and lipids accumulate in the murine model of this lysosomal cholesterol lipidosis.
abstract: Cystine levels in tissues of the murine BALB/C mouse model of type C Niemann-Pick disease were shown to be greatly elevated. Subcellular fractionation of liver homogenates by differential centrifugation suggested preferential accumulation in a fraction corresponding to lysosomes. Developmentally, a sharp increase in the accumulation of cystine in the mutant mouse liver occurs subsequent to a similar change in the accumulation of cholesterol, sphingomyelin and glucocerebroside. The lysosomal accumulation of cystine in this mutant mouse provides the experimental opportunity to study some aspects of the deficiency of lysosomal cystine transport noted in cystinosis.
authors.affiliation: Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892.
authors.forename: J D
authors.initials: JD
authors.lastname: Butler
authors.forename: M T
authors.initials: MT
authors.lastname: Vanier
authors.forename: P G
authors.initials: PG
authors.lastname: Pentchev
mesh_terms: D000818:Animals; D002784:Cholesterol / Q000378:metabolism; D003553:Cystine / Q000378:metabolism*; D003554:Cystinosis / Q000378:metabolism*; D004195:Disease Models, Animal; D005963:Glucosylceramides / Q000378:metabolism; D006801:Humans; D050356:Lipid Metabolism; D008099:Liver / Q000378:metabolism; D008247:Lysosomes / Q000378:metabolism*; D051379:Mice; D008807:Mice, Inbred BALB C / Q000235:genetics; D008817:Mice, Mutant Strains / Q000378:metabolism*; D009542:Niemann-Pick Diseases / Q000145:classification / Q000378:metabolism*; D013109:Sphingomyelins / Q000378:metabolism; D014018:Tissue Distribution
chemical_list: D005963:Glucosylceramides; D013109:Sphingomyelins; D003553:Cystine; D002784:Cholesterol