Niemann-Pick Variant Disorders: Comparison of Errors of Cellular Cholesterol Homeostasis in Group D and Group C Fibroblasts

• Published in: Proceedings of the National Academy of Sciences - PNAS Vol. 84; no. 2; pp. 556 - 560
• Main Authors: Butler, Jean DeBrohun, Comly, Marcella E., Kruth, Howard S., Vanier, Marie, Filling-Katz, Michele, Fink, John, Barton, Norman, Weintroub, Hana, Quirk, Jane M., Tokoro, Toshioharu, Marshall, Darlene C., Brady, Roscoe O., Pentchev, Peter G.
• Format: Journal Article
• Language: English
• Published: United States National Academy of Sciences of the United States of America 01.01.1987; National Acad Sciences
• Subjects: Adult; Cell culture techniques; Cell lines; Child; Cholesterol - metabolism; Cholesterol esters; Cholesterols; Cultured cells; Disorders; Female; Fibroblasts; Fibroblasts - metabolism; Fluorescent Antibody Technique; Genetic Variation; Heterozygote; Homeostasis; Homozygote; Humans; Kinetics; Lesions; Male; Niemann Pick diseases; Niemann-Pick Diseases - genetics; Niemann-Pick Diseases - metabolism; Skin - metabolism; Ungulates

Fluorescence microscopic examination of filipin-stained cultured skin fibroblasts derived from two brothers with group D Niemann-Pick disease revealed abnormal storage of low density lipoprotein (LDL)-derived cholesterol. LDL stimulation of intracellular cholesteryl ester synthesis was severely comp...