Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.
AUTOR(ES)
Steinberg, S J
RESUMO
Niemann-Pick disease type C is a clinically heterogeneous storage disorder with an unknown primary metabolic defect. We have undertaken somatic cell hybridisation experiments using skin fibroblast strains from 12 patients representing a wide clinical spectrum. Preliminary experiments using filipin staining of free cholesterol as a marker for complementation indicated the existence of one major group (group alpha) and one minor group (group beta) represented by one mutant strain. Subsequent experiments in which sphingomyelinase activity was measured as a marker for complementation using five mutant strains showing activity consistently < 40% control levels confirmed the existence of the second group.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1049805Documentos Relacionados
- A defect in cholesterol esterification in Niemann-Pick disease (type C) patients.
- Linkage of Niemann-Pick disease type C to human chromosome 18.
- Localization of Niemann–Pick C1 protein in astrocytes: Implications for neuronal degeneration in Niemann– Pick type C disease
- Endocardial fibroelastosis and Niemann-Pick disease.
- Structure of a cholesterol-binding protein deficient in Niemann–Pick type C2 disease