Document Detail

Structural and functional properties of apolipoprotein A-I mutants.
MedLine Citation:
PMID:  11426584     Owner:  NLM     Status:  MEDLINE    
Apolipoprotein (apo) A-I is composed of 243 amino acid residues that fold into amphipathic helixes, and plays a central role in the high density lipoprotein (HDL) metabolism. Familial apoA-I deficiency is a rare metabolic disorder of which three cases have been characterized at a molecular level in western Japan. However, in subjects with apoA-I deficiency, coronary artery disease was not always present. One apo A-I deficiency was compound heterozygous apoA-I mutant for a TATA box mutation and a structural nonsense mutation. To date, screening analysis in our laboratory has identified nine genetically-determined structural mutations of apo A-I. We have also characterized these apo A-I mutations, including apoA-I (Glu235del) Nichinan. Few structural mutations were associated with altered HDL cholesterol levels.
J Sasaki; A Matsunaga; W Huang; H Han; W Li; M Kugi; T Koga
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Publication Detail:
Type:  Congresses    
Journal Detail:
Title:  Journal of atherosclerosis and thrombosis     Volume:  7     ISSN:  1340-3478     ISO Abbreviation:  J. Atheroscler. Thromb.     Publication Date:  2000  
Date Detail:
Created Date:  2001-06-27     Completed Date:  2001-08-09     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9506298     Medline TA:  J Atheroscler Thromb     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  67-70     Citation Subset:  IM    
Department of Internal Medicine, Fukuoka University School of Medicine, Japan.
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MeSH Terms
Apolipoprotein A-I / deficiency,  genetics*,  metabolism*
Reg. No./Substance:
0/Apolipoprotein A-I

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