Missense mutations in APOB within the βα1 domain of human APOB-100 result in impaired secretion of ApoB and ApoB-containing lipoproteins in familial hypobetalipoproteinemia

Journal of Biological Chemistry

Volumn 282, Issue 33, 2007, Pages 24270-24283

  Burnett, John R ^a,b   Zhong, Shumei ^c   Jiang, Zhenghui G ^d   Hooper, Amanda J ^a,b   Fisher, Eric A ^e   McLeod, Roger S ^e   Zhao, Yang ^f   Barrett, P Hugh R ^b   Hegele, Robert A ^g   Van Bockxmeer, Frank M ^a   Zhang, Hongyu ^c   Vance, Dennis E ^f   McKnight, C James ^d   Yao, Zemin ^c  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c UNIVERSITY OF OTTAWA   (Canada)

^d BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e DALHOUSIE UNIVERSITY   (Canada)

^f UNIVERSITY OF ALBERTA   (Canada)

^g ROBARTS RESEARCH INSTITUTE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

BIOCHEMISTRY; GENES; PROTEINS;

ENDOPLASMIC RETICULUM; LOW DENSITY LIPOPROTEINS; MICROSOMAL TRIGLYCERIDE; SECRETION EFFICIENCY;

MUTAGENESIS;

APOLIPOPROTEIN; APOLIPOPROTEIN B100; GLUCOSE REGULATED PROTEIN 78; MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN; VERY LOW DENSITY LIPOPROTEIN;

ADULT; ARTICLE; CLINICAL ARTICLE; ENDOPLASMIC RETICULUM; FAMILIAL DISEASE; FAMILY; FEMALE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPOBETALIPOPROTEINEMIA; LIPID BLOOD LEVEL; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN FOLDING;

EID: 34548277608     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M702442200     Document Type: Article

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