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

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2012年 / 20卷 / 08期

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

页码：909 / 3

页数：3

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
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
[J]. 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
Chowers, I
Banin, E
Merin, S
Cooper, M
Granot, E
[J]. EYE, 2001, 15 (4) : 525 - 530
[3] Assessment of tocopherol metabolism and oxidative stress in familial hypobetalipoproteinemia
Clarke, Michael W.
Hooper, Amanda J.
Headlam, Henrietta A.
Wu, Jason H. Y.
Croft, Kevin D.
Burnett, John R.
[J]. CLINICAL CHEMISTRY, 2006, 52 (07) : 1339 - 1345
[4] Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism
Hooper, AJ
van Bockxmeer, FM
Burnett, JR
[J]. 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
Hooper, Amanda J.
Adams, Leon A.
Burnett, John R.
[J]. 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
Lonardo, A
Tarugi, P
Ballarini, G
Bagni, A
[J]. 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
Schonfeld, G
Patterson, BW
Yablonskiy, DA
Tanoli, TSK
Averna, M
Elias, N
Yue, P
Ackerman, J
[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)
Tarugi, P
Lonardo, A
Ballarini, G
Erspamer, L
Tondelli, E
Bertolini, S
Calandra, S
[J]. JOURNAL OF HEPATOLOGY, 2000, 33 (03) : 361 - 370
[10] HYPOBETALIPOPROTEINEMIA: GENETICS, BIOCHEMISTRY, AND CLINICAL SPECTRUM
Tarugi, Patrizia
Averna, Maurizio
[J]. ADVANCES IN CLINICAL CHEMISTRY, VOL 54, 2011, 54 : 81 - 107

← 1 2 →