Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

D. Carstea, Eugene; A. Morris, Jill; Coleman, Katherine; K. Loftus, Stacie; Zhang, Dana; Cummings, Christiano; Gu, Jessie; A. Rosenfeld, Melissa; J. Pavan, William; B. Krizman, David; W. Nagle, James; H. Polymeropoulos, Mihail; L. Sturley, Stephen; A. Ioannou, Yiannis; E. Higgins, Maureen; Comly, Marcella; Cooney, Adele; Brown, Anthony; R. Kaneski, Christine; Joan Blanchette‐Mackie, E.; K. Dwyer, Nancy; B. Neufeld, Edward; Chang, Ta‐Yuan; Liscum, Laura; F. Strauss, Jerome; Ohno, Kousaku; Zeigler, Marsha; Carmi, Rivka; Sokol, Jacob; Markie, David; O’Neill, Raymond; P. van Diggelen, O.; Elleder, M.; C. Patterson, Marc; O. Brady, Roscoe; T. Vanier, Marie; G. Pentchev, Peter; A. Tagle, Danilo

doi:10.1126/science.277.5323.228

Public

Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

Published in Science • Jul 11, 1997

Authors:

Eugene D. Carstea

Jill A. Morris

Katherine Coleman

Abstract

Niemann-Pick type C (NP-C) disease, a fatal neurovisceral disorder, is characterized by lysosomal accumulation of low density lipoprotein (LDL)-derived cholesterol. By positional cloning methods, a gene (NPC1) with insertion, deletion, and missense mutations has been identified in NP-C patients. Tra...

Subject

NPC1

Niemann–Pick disease

Biology

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!