Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis

Science

Volumn 277, Issue 5323, 1997, Pages 228-231

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

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

AMINO ACID SEQUENCE; ARTICLE; CONTROLLED STUDY; GENE DELETION; GENE INSERTION; GENE ISOLATION; HUMAN; HUMAN CELL; LIPOPROTEIN METABOLISM; MISSENSE MUTATION; NIEMANN PICK DISEASE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; CARRIER PROTEINS; CHOLESTEROL; CHOLESTEROL, LDL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 18; CLONING, MOLECULAR; DROSOPHILA PROTEINS; HOMEOSTASIS; HUMANS; HYDROXYMETHYLGLUTARYL COA REDUCTASES; INSECT PROTEINS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LYSOSOMES; MEMBRANE GLYCOPROTEINS; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NIEMANN-PICK DISEASES; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; RECEPTORS, CELL SURFACE; SEQUENCE HOMOLOGY, AMINO ACID; TRANSFECTION;

EID: 0030863352     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.277.5323.228     Document Type: Article

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34. We thank D. Mosbrook and N. Dietrich for nucleotide sequencing, F. S. Collins for advice, E. A. Dawidowicz for many helpful discussions, D. Schoenberg for assistance in the preparation of the manuscript, and J. M. Trent for encouragement and mentoring. We thank the Ara Parseghian Medical Research Foundation and the National Niemann-Pick Disease Foundation for research support and the United Kingdom Niemann-Pick Foundation for helpful interactions. We foremost acknowledge the wisdom, courage, understanding, and faith of the Niemann-Pick C patients and their families who have made this work possible.