Clinical utility gene card for: Familial Hypobetalipoproteinaemia (APOB)

被引:4
作者
Burnett, John R. [2 ,3 ,4 ]
Bell, Damon A. [2 ,3 ]
Hooper, Amanda J. [2 ,3 ,4 ]
Hegele, Robert A. [1 ]
机构
[1] Robarts Res Inst, London, ON N6A 5K8, Canada
[2] Royal Perth Hosp, PathWest Lab Med, Dept Core Clin Pathol & Biochem, Perth, WA, Australia
[3] Univ Western Australia, Sch Med & Pharmacol, Perth, WA 6009, Australia
[4] Univ Western Australia, Sch Pathol & Lab Med, Perth, WA 6009, Australia
基金
加拿大健康研究院;
关键词
FATTY LIVER; LIPOPROTEINS; METABOLISM; MUTATIONS;
D O I
10.1038/ejhg.2012.85
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
[No abstract available]
引用
收藏
页码:909 / 3
页数:3
相关论文
共 11 条
[1]   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 [J].
Burnett, John R. ;
Zhong, Shumei ;
Jiang, Zhenghui G. ;
Hooper, Amanda J. ;
Fisher, Eric A. ;
McLeod, Roger S. ;
Zhao, Yang ;
Barrett, P. Hugh R. ;
Hegele, Robert A. ;
van Bockxmeer, Frank M. ;
Zhang, Hongyu ;
Vance, Dennis E. ;
McKnight, C. James ;
Yao, Zemin .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2007, 282 (33) :24270-24283
[2]   Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients [J].
Chowers, I ;
Banin, E ;
Merin, S ;
Cooper, M ;
Granot, E .
EYE, 2001, 15 (4) :525-530
[3]   Assessment of tocopherol metabolism and oxidative stress in familial hypobetalipoproteinemia [J].
Clarke, Michael W. ;
Hooper, Amanda J. ;
Headlam, Henrietta A. ;
Wu, Jason H. Y. ;
Croft, Kevin D. ;
Burnett, John R. .
CLINICAL CHEMISTRY, 2006, 52 (07) :1339-1345
[4]   Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism [J].
Hooper, AJ ;
van Bockxmeer, FM ;
Burnett, JR .
CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES, 2005, 42 (5-6) :515-545
[5]   Thematic Review Series: Genetics of Human Lipid Diseases Genetic determinants of hepatic steatosis in man [J].
Hooper, Amanda J. ;
Adams, Leon A. ;
Burnett, John R. .
JOURNAL OF LIPID RESEARCH, 2011, 52 (04) :593-617
[6]  
Kane J.P., 2001, METABOLIC MOL BASES, V2, P2717
[7]   Familial heterozygous hypobetalipoproteinemia, extrahepatic primary malignancy, and hepatocellular carcinoma [J].
Lonardo, A ;
Tarugi, P ;
Ballarini, G ;
Bagni, A .
DIGESTIVE DISEASES AND SCIENCES, 1998, 43 (11) :2489-2492
[8]   Fatty liver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis [J].
Schonfeld, G ;
Patterson, BW ;
Yablonskiy, DA ;
Tanoli, TSK ;
Averna, M ;
Elias, N ;
Yue, P ;
Ackerman, J .
JOURNAL OF LIPID RESEARCH, 2003, 44 (03) :470-478
[9]   A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5) [J].
Tarugi, P ;
Lonardo, A ;
Ballarini, G ;
Erspamer, L ;
Tondelli, E ;
Bertolini, S ;
Calandra, S .
JOURNAL OF HEPATOLOGY, 2000, 33 (03) :361-370
[10]   HYPOBETALIPOPROTEINEMIA: GENETICS, BIOCHEMISTRY, AND CLINICAL SPECTRUM [J].
Tarugi, Patrizia ;
Averna, Maurizio .
ADVANCES IN CLINICAL CHEMISTRY, VOL 54, 2011, 54 :81-107