Structural and functional analysis of APOA5 mutations identifi ed in patients with severe hypertriglyceridemia

Journal of Lipid Research

Volumn 54, Issue 3, 2013, Pages 649-661

  Mendoza Barberá, Elena ^a   Julve, Josep ^a,b   Nilsson, Stefan K ^c   Lookene, Aivar ^d   Martín Campos, Jesús M ^a   Roig, Rosa ^a   Lechuga Sancho, Alfonso M ^e   Sloan, John H ^f   Fuentes Prior, Pablo ^a   Blanco Vaca, Francisco ^a,b,g  

^a BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c UMEÅ UNIVERSITY   (Sweden)

^d TALLINN UNIVERSITY OF TECHNOLOGY   (Estonia)

^e HOSPITAL UNIVERSITARIO PUERTA DEL MAR   (Spain)

^f ELI LILLY AND COMPANY   (United States)

^g UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

Author keywords

ApoA V; Familial hyperchylomicronemia; Homology modeling; LRP1; Molecular bases of disease; SorLA LR11; Sortilin; Triglyceride metabolism; Type V hyperlipidemia

Indexed keywords

APOLIPOPROTEIN A5; GENOMIC DNA; HEPARIN; LIPOSOME; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN; MEMBRANE PROTEIN; SORTILIN; SORTING PROTEIN RELATED RECEPTOR CONTAINING LOW DENSITY LIPOPROTEIN RECEPTOR CLASS A REPEAT PROTEIN; UNCLASSIFIED DRUG;

ADULT; APOA5 GENE; ARTICLE; CASE REPORT; CHILD; COMPLEX FORMATION; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; FOLLOW UP; GENE; GENE MUTATION; GENE OVEREXPRESSION; GENE STRUCTURE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HYPERTRIGLYCERIDEMIA; LIPOPROTEIN BLOOD LEVEL; LIPOPROTEIN METABOLISM; LPL GENE; MALE; MOLECULAR CLONING; MOLECULAR INTERACTION; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN ANALYSIS; RELATIVE; SEQUENCE ANALYSIS; WILD TYPE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; APOLIPOPROTEINS A; BLOTTING, WESTERN; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FEMALE; HUMANS; HYPERTRIGLYCERIDEMIA; LIPOSOMES; MALE; MIDDLE AGED; MUTAGENESIS, SITE-DIRECTED; MUTATION; YOUNG ADULT;

EID: 84874030482     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.M031195     Document Type: Article

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