NIEMANN-PICK-DISEASE TYPE-C

Authors
LISCUM L KLANSEK JJ
Citation
L. Liscum et Jj. Klansek, NIEMANN-PICK-DISEASE TYPE-C, Current opinion in lipidology, 9(2), 1998, pp. 131-135
Citations number
32
Categorie Soggetti
Peripheal Vascular Diseas",Biology,"Endocrynology & Metabolism
Journal title
Current opinion in lipidology → ACNP
ISSN journal
09579672
Volume
9
Issue
2
Year of publication
1998
Pages
131 - 135
Database
ISI
SICI code
0957-9672(1998)9:2<131:>2.0.ZU;2-1
Abstract
Niemann-Pick type C (NPC) is an autosomal recessive lysosomal storage disease. Fibroblasts from individuals with Niemann-Pick type C exhibit defective intracellular cholesterol transport. Linkage analysis has l ed to the recent cloning of the NPC1 gene on human chromosome 18, whic h is the major disease locus. Analysis of NPC1 reveals homologies with key regulators of cholesterol homeostasis and a Drosophila morphogen receptor. (C) 1998 Rapid Science Ltd.