Niemann-Pick type C disease: Molecular mechanisms and potential therapeutic approaches

Journal of Neurochemistry

Volumn 116, Issue 5, 2011, Pages 789-795

  Rosenbaum, Anton I ^a   Maxfield, Frederick R ^a  

^a WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

acid sphingomyelinase; bis(monoacylglycerol)phosphate; cyclodextrin; lysosomal acid lipase; lysosomal storage organelle; miglustat

Indexed keywords

3ALPHA HYDROXY 5ALPHA PREGNAN 20 ONE; ABC TRANSPORTER A1; APOLIPOPROTEIN E; BETA CYCLODEXTRIN; EZETIMIBE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; MIGLUSTAT; NIEMANN PICK C 1 PROTEIN; NIEMANN PICK C 2 PROTEIN; RECOMBINANT ENZYME; SPHINGOMYELIN PHOSPHODIESTERASE; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; CHOLESTEROL TRANSPORT; CONFORMATIONAL TRANSITION; CRYSTAL STRUCTURE; GENE MUTATION; HUMAN; LIGAND BINDING; NERVE DEGENERATION; NIEMANN PICK DISEASE; NONHUMAN; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN LIPID INTERACTION; PROTEIN LOCALIZATION; REVIEW;

ANIMALS; CARRIER PROTEINS; CHOLESTEROL; CYCLODEXTRINS; GLYCOPROTEINS; HUMANS; MEMBRANE GLYCOPROTEINS; MODELS, BIOLOGICAL; MOLECULAR CHAPERONES; MUTATION; NIEMANN-PICK DISEASE, TYPE C; SPHINGOMYELIN PHOSPHODIESTERASE;

MAMMALIA;

EID: 79851476221     PISSN: 00223042     EISSN: 14714159     Source Type: Journal    
DOI: 10.1111/j.1471-4159.2010.06976.x     Document Type: Review

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