| Niemann-Pick disease type C |
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| Author(s): Liscum L, Klansek JJ |
| Source: CURRENT OPINION IN LIPIDOLOGY Volume: 9 Issue: 2 Pages: 131-135 Published: APR 1998 |
| Times Cited: 77 References: 32 |
| 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 led to the recent cloning of the NPC1 gene on human chromosome 18, which 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. |
| Document Type: Review |
| Language: English |
| Reprint Address: Liscum, L (reprint author), Tufts Univ, Sch Med, Dept Physiol, 136 Harrison Ave, Boston, MA 02111 USA |
Addresses:
1. Tufts Univ, Sch Med, Dept Physiol, Boston, MA 02111 USA |
| Publisher: LIPPINCOTT WILLIAMS & WILKINS, 227 EAST WASHINGTON SQ, PHILADELPHIA, PA 19106 USA |
| Subject Category: Biochemistry & Molecular Biology; Endocrinology & Metabolism; Peripheral Vascular Disease |
| IDS Number: ZD786 |
| ISSN: 0957-9672 |