Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein

European Heart Journal

Volumn 34, Issue 17, 2013, Pages 1292-1297

  Sorrentino, Vincenzo ^a   Fouchier, Sigrid W ^a   Motazacker, Mohammad M ^a   Nelson, Jessica K ^a   Defesche, Joep C ^a   Dallinga Thie, Geesje M ^a   Kastelein, John J P ^a   Kees Hovingh, G ^a   Zelcer, Noam ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

E3 ubiquitin ligase; IDOL; LDL; LDL receptor; Rare coding variants

Indexed keywords

APOLIPOPROTEIN B; KEXIN; KEXIN 9; LOW DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CIRCULATION; DEGRADATION; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; HYPERCHOLESTEROLEMIA; HYPOCHOLESTEROLEMIA; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; UBIQUITINATION;

E3-UBIQUITIN LIGASE; IDOL; LDL; LDL RECEPTOR; RARE CODING VARIANTS;

ADULT; CHOLESTEROL, LDL; CODON, NONSENSE; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LIPOPROTEINS, HDL; LIPOPROTEINS, LDL; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; RECEPTORS, LDL; UBIQUITIN-PROTEIN LIGASES;

EID: 84877246816     PISSN: 0195668X     EISSN: 15229645     Source Type: Journal    
DOI: 10.1093/eurheartj/ehs472     Document Type: Article

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