The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations

FEBS Journal

Volumn 281, Issue 19, 2014, Pages 4450-4466

  Macías Vidal, Judit ^a,b,c   Girós, Marisa ^a,b,c   Guerrero, Martina ^d   Gascón, Pere ^a,c   Serratosa, Joan ^c,e   Bachs, Oriol ^c,d   Coll, Aria Josep ^a,b,c  

^a HOSPITAL CLÍNIC   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^d UNIVERSITY OF BARCELONA   (Spain)

^e INST D INVESTIGACIONS B   (Spain)

Author keywords

Bortezomib; Missense mutations; Niemann Pick type C disease; NPC1 protein; Proteasome inhibitors

Indexed keywords

BENZYLOXYCARBONYLLEUCYLLEUCYLLEUCINAL; BORTEZOMIB; CHOLESTEROL; MUTANT PROTEIN; N ACETYLLEUCYLLEUCYLNORLEUCINAL; PROTEIN NPC1; UNCLASSIFIED DRUG; BENZYLOXYCARBONYLLEUCYL-LEUCYL-LEUCINE ALDEHYDE; BORONIC ACID DERIVATIVE; CARRIER PROTEIN; LEUPEPTIN; MEMBRANE PROTEIN; NPC1 PROTEIN, HUMAN; PROTEASOME; PROTEASOME INHIBITOR; PYRAZINE DERIVATIVE;

ARTICLE; CELL LEVEL; CHOLESTEROL TRANSPORT; CLINICAL ARTICLE; CONCENTRATION RESPONSE; CONTROLLED STUDY; DRUG MECHANISM; FIBROBLAST; GENE; HALF LIFE TIME; HOMOZYGOSITY; HUMAN; HUMAN CELL; IN VITRO STUDY; LIPID STORAGE; LOW DRUG DOSE; MISSENSE MUTATION; NIEMANN PICK DISEASE; NPC1 GENE; NUCLEOTIDE SEQUENCE; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN STABILITY; CELL CULTURE; DRUG EFFECTS; ENDOSOME; GENETICS; METABOLISM; PATHOLOGY; PROTEIN TRANSPORT;

BORONIC ACIDS; CARRIER PROTEINS; CELLS, CULTURED; CHOLESTEROL; ENDOSOMES; FIBROBLASTS; HUMANS; LEUPEPTINS; MEMBRANE GLYCOPROTEINS; MUTATION, MISSENSE; NIEMANN-PICK DISEASE, TYPE C; PROTEASOME ENDOPEPTIDASE COMPLEX; PROTEASOME INHIBITORS; PROTEIN STABILITY; PROTEIN TRANSPORT; PROTEOLYSIS; PYRAZINES;

EID: 84912103263     PISSN: 1742464X     EISSN: 17424658     Source Type: Journal    
DOI: 10.1111/febs.12954     Document Type: Article

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