Co-cultivation of Niemann-Pick disease type C fibroblasts belonging to complementation groups α and β stimulates LDL-derived cholesterol esterification

Journal of Inherited Metabolic Disease

Volumn 19, Issue 6, 1996, Pages 769-774

  Steinberg, S J ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; FILIPIN; LOW DENSITY LIPOPROTEIN;

ARTICLE; CHOLESTEROL ESTERIFICATION; FIBROBLAST; GENETIC COMPLEMENTATION; HUMAN; HUMAN CELL; NIEMANN PICK DISEASE; SOMATIC CELL;

EID: 0029845517     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799171     Document Type: Article

References (8)

1. Blanehette-Mackie EJ, Dwyer NK, Vanier MT, et al (1989) Type C Niemann - Pick disease: dimethyl sulfoxide moderates abnormal LDL-cholesterol processing in mutant fibroblasts. Biochim Biophys Acta 1006: 219-226.
2. Carstca ED, Polymeropoulos MH, Parker CC, et al (1993) Linkage of Niemann - Pick disease type C to human chromosome 18. Proc Natl Acad Sci USA 90: 2002-2004.
3. Neville BGR, Lake BD, Stephens R, Sanders MD (1973) A neurovisceral storage disease with vertical supranuclear ophthalmoplegia and its relationships to Niemann - Pick disease. Brain 96: 97-120.
4. Steinberg SJ, Ward CP, Fensom AH (1994) Complementation studies in Niemann - Pick disease type C indicate the existence of a second group. J Med Genet 31: 317-320.
5. Vanier MT, Pentchev P, Rodriguez-Lafrasse C. Rousson R (1991a) Niemann - Pick disease type C: an update. J Inher Metab Dis 14: 580-595.
6. Vanier MT, Rodriguez-Lafrasse C, Rousson R, et al (1991b) Type C Niemann - Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim Biophys Acta 1096: 328-337.
7. Vanier MT, Rodriguez-Lafrasse C, Rousson R, et al (1991c) Type C Niemann - Pick disease: biochemical aspects and phenotypic heterogeneity. Dev Neurosci 13: 307-314.
8. Vanier MT, Duthel S, Rodriguez-Lafrasse C, et al (1996) Genetic heterogeneity in Niemann - Pick C disease: a study using somatic cell hybridization and linkage analysis. Am J Hum Genet 58: 118-125.