Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice

Proceedings of the National Academy of Sciences of the United States of America

Volumn 108, Issue 37, 2011, Pages 15330-15335

  Xie, Xuefen ^a   Brown, Michael S ^a   Shelton, John M ^a   Richardson, James A ^a   Goldstein, Joseph L ^a   Liang, Guosheng ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

Cholesterol binding domain; Cyclodextrin; Knockin mutation; Lysosomal storage disease; Niemann Pick disease

Indexed keywords

2 HYDROXYPROPYL BETA CYCLODEXTRIN; ALANINE; BETA GLUCURONIDASE; CATHEPSIN B; CATHEPSIN D; CHOLESTEROL; LYSOSOME ENZYME; MEMBRANE PROTEIN; MESSENGER RNA; PHENYLALANINE; PROLINE; PROTEIN NPC1; PROTEIN NPC2; TRIACYLGLYCEROL LIPASE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ANIMAL CELL; ANIMAL CELL CULTURE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BINDING KINETICS; BIOACCUMULATION; CHOLESTEROL LIVER LEVEL; CONTROLLED STUDY; FEMALE; GENE MUTATION; HOMOLOGOUS RECOMBINATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; KNOCKOUT GENE; KNOCKOUT MOUSE; LYSOSOME; MALE; MOUSE; NERVE DEGENERATION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY;

AMINO ACID SUBSTITUTION; ANIMALS; CHOLESTEROL; CYCLODEXTRINS; FEMALE; GANGLIOSIDES; GENE KNOCK-IN TECHNIQUES; HUMANS; LIVER; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; MALE; MICE; ORGAN SPECIFICITY; PHENOTYPE; PROTEIN BINDING; PROTEIN TRANSPORT; PROTEINS; SURVIVAL ANALYSIS; TRANSFECTION;

ANIMALIA; MUS;

EID: 80053085866     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1112751108     Document Type: Article

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