title: Biological implications of the Niemann-Pick C mutation.
authors.affiliation: National Institute of Neurological Disorders and Stroke, Developmental and Metabolic Neurology Branch, National Institutes of Health, Bethesda, Maryland 20892, USA.
authors.forename: P G
authors.initials: PG
authors.lastname: Pentchev
authors.forename: E J
authors.initials: EJ
authors.lastname: Blanchette-Mackie
authors.forename: L
authors.initials: L
authors.lastname: Liscum
mesh_terms: D000736:Androstenes / Q000494:pharmacology; D000818:Animals; D000924:Anticholesteremic Agents / Q000494:pharmacology; D002478:Cells, Cultured; D002784:Cholesterol / Q000378:metabolism*; D002788:Cholesterol Esters / Q000378:metabolism; D006056:Golgi Apparatus / Q000378:metabolism; D006801:Humans; D008074:Lipoproteins / Q000378:metabolism; D008247:Lysosomes / Q000378:metabolism; D009154:Mutation / Q000235:genetics; D009542:Niemann-Pick Diseases / Q000235:genetics* / Q000378:metabolism*
chemical_list: D000736:Androstenes; D000924:Anticholesteremic Agents; D002788:Cholesterol Esters; D008074:Lipoproteins; C006261:3-beta-(2-(diethylamino)ethoxy)androst-5-en-17-one; D002784:Cholesterol