Identification of a gene variant in the master regulator of lipid metabolism SREBP-1 in a family with a novel form of severe combined hypolipidemia

Atherosclerosis

Volumn 218, Issue 1, 2011, Pages 134-143

  Kotzka, Jorg ^a   Knebel, Birgit ^a   Janssen, Onno E ^b   Schaefer, J R ^c   Soufi, M ^c   Jacob, Sylvia ^a   Nitzgen, Ulrike ^a   Muller Wieland, Dirk ^d  

^a HEINRICH HEINE UNIVERSITY   (Germany)

^b Cardiology Philips University Marburg ^*  (Germany)

^c PHILIPPS UNIVERSITY MARBURG   (Germany)

^d DEPARTMENT OF CARDIOLOGY   (Germany)

Author keywords

Erk MAPK; Low LDL C; Phosphorylation; SREBP; Transcription factor

Indexed keywords

APOLIPOPROTEIN A1; APOLIPOPROTEIN B; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; STEROL REGULATORY ELEMENT BINDING PROTEIN 1; TRANSCRIPTION FACTOR; TRIACYLGLYCEROL;

ARTICLE; ATHEROSCLEROSIS; CHOLESTEROL METABOLISM; CHOLESTEROL SYNTHESIS; FATTY ACID SYNTHESIS; FEMALE; GENE; GENE EXPRESSION; GENE STRUCTURE; GENETIC VARIABILITY; HEART INFARCTION; HUMAN; HYPOLIPEMIA; LIPID METABOLISM; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SREBF 1 GENE; SREBF 2 GENE; STROKE; TRANSCRIPTION INITIATION;

EID: 80052259615     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2011.05.008     Document Type: Article

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