Hypobetalipoproteinemia and abetalipoproteinemia: liver disease and cardiovascular disease
Tóm tắt
Từ khóa
Tài liệu tham khảo
Havel, 1995, Introduction: structure and metabolism of plasma lipoproteins, The metabolic and molecular bases of inherited disease, 1841
Young, 1990, Recent progress in understanding apolipoprotein B, Circulation, 82, 1574, 10.1161/01.CIR.82.5.1574
Chen, 1987, Apolipoprotein B-48 is the product of a messenger RNA with an organ-specific in-frame stop codon, Science, 238, 363, 10.1126/science.3659919
Berriot-Varoqueaux, 2000, The role of the microsomal triglyceride transfer protein in abetalipoproteinemia, Annu Rev Nutr, 20, 663, 10.1146/annurev.nutr.20.1.663
Weisgraber, 1987, Human apolipoprotein B-100 heparin-binding sites, J Biol Chem, 262, 11097, 10.1016/S0021-9258(18)60931-7
Sehayek, 1991, Lipolysis exposes unreactive endogenous apolipoprotein E-3 in human and rat plasma very low density lipoprotein, J Clin Invest, 88, 553, 10.1172/JCI115339
Beigneux, 2007, Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons, Cell Metab, 5, 279, 10.1016/j.cmet.2007.02.002
Burnett, 2015, Clinical utility gene card for: familial hypobetalipoproteinaemia (APOB)--Update 2014, Eur J Hum Genet, 23
Welty, 1991, A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia, J Clin Invest, 87, 1748, 10.1172/JCI115193
Lee, 2017, Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels, PLoS One, 12, e0186446, 10.1371/journal.pone.0186446
Blanco-Vaca, 2019, Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: evidence supporting polygenicity in mutation-negative patients, Atherosclerosis, 283, 52, 10.1016/j.atherosclerosis.2019.01.036
Peloso, 2019, Rare protein-truncating variants in APOB, lower low-density lipoprotein cholesterol, and protection against coronary heart disease, Circ Genom Precis Med, 12, e002376, 10.1161/CIRCGEN.118.002376
van den Boogert, 2019, N-glycosylation defects in humans lower low-density lipoprotein cholesterol through increased low-density lipoprotein receptor expression, Circulation, 140, 280, 10.1161/CIRCULATIONAHA.118.036484
Welty, 1995, Identification and molecular analysis of two apoB gene mutations causing low plasma cholesterol levels, Circulation, 92, 2036, 10.1161/01.CIR.92.8.2036
Tarugi, 2001, Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene, J Lipid Res, 42, 1552, 10.1016/S0022-2275(20)32208-2
Tanoli, 2004, Fatty liver in familial hypobetalipoproteinemia: roles of the APOB defects, intra-abdominal adipose tissue, and insulin sensitivity, J Lipid Res, 45, 941, 10.1194/jlr.M300508-JLR200
Schonfeld, 2003, Fatty liver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis, J Lipid Res, 44, 470, 10.1194/jlr.M200342-JLR200
Welty, 1997, Decreased production and increased catabolism of apolipoprotein B-100 in apolipoprotein B-67/B-100 heterozygotes, Arterioscler Thromb Vasc Biol, 17, 881, 10.1161/01.ATV.17.5.881
Welty, 1997, Production of apolipoprotein B-67 in apolipoprotein B-67/B-100 heterozygotes: technical problems associated with leucine contamination in stable isotope studies, J Lipid Res, 38, 1535, 10.1016/S0022-2275(20)37171-6
Elias, 1999, Decreased production rates of VLDL triglycerides and ApoB-100 in subjects heterozygous for familial hypobetalipoproteinemia, Arterioscler Thromb Vasc Biol, 19, 2714, 10.1161/01.ATV.19.11.2714
Aguilar-Salinas, 1995, Apoprotein B-100 production is decreased in subjects heterozygous for truncations of apoprotein B, Arterioscler Thromb Vasc Biol, 15, 71, 10.1161/01.ATV.15.1.71
Parhofer, 1996, Positive linear correlation between the length of truncated apolipoprotein B and its secretion rate: in vivo studies in human apoB89, apoB-75, apoB-54.8, and apoB-31 heterozygotes, J Lipid Res, 37, 844, 10.1016/S0022-2275(20)37582-9
Mouzaki, 2019, Extremely low levels of low-density lipoprotein potentially suggestive of familial hypobetalipoproteinemia: a separate phenotype of NAFLD?, J Clin Lipidol, 13, 425, 10.1016/j.jacl.2019.02.002
Della Corte, 2013, Fatty liver and insulin resistance in children with hypobetalipoproteinemia: the importance of aetiology, Clin Endocrinol, 79, 49, 10.1111/j.1365-2265.2012.04498.x
Visser, 2011, Hepatic steatosis does not cause insulin resistance in people with familial hypobetalipoproteinaemia, Diabetologia, 54, 2113, 10.1007/s00125-011-2157-x
Kotronen, 2007, Effect of liver fat on insulin clearance, Am J Physiol Endocrinol Metab, 293, E1709, 10.1152/ajpendo.00444.2007
Lonardo, 2006, Hepatic steatosis and insulin resistance: does etiology make a difference?, J Hepatol, 44, 190, 10.1016/j.jhep.2005.06.018
Noto, 2017, Association between familial hypobetalipoproteinemia and the risk of diabetes. Is this the other side of the cholesterol-diabetes connection? A systematic review of literature, Acta Diabetol, 54, 111, 10.1007/s00592-016-0931-4
Tarugi, 1997, Heterozygous familial hypobetalipoproteinemia associated with fatty liver, Am J Gastroenterol, 92, 1400
Bonnefont-Rousselot, 2009, Cryptogenic cirrhosis in a patient with familial hypocholesterolemia due to a new truncated form of apolipoprotein B, Eur J Gastroenterol Hepatol, 21, 104, 10.1097/MEG.0b013e3282ffd9f8
Lonardo, 1998, Familial heterozygous hypobetalipoproteinemia, extrahepatic primary malignancy, and hepatocellular carcinoma, Dig Dis Sc, 43, 2489, 10.1023/A:1026646618643
Cefalu, 2013, A novel apoB mutation identified by exome sequencing cosegregates with steatosis, liver cancer and hypocholesterolemia, Arterioscler Thromb Vasc Biol, 33, 2021, 10.1161/ATVBAHA.112.301101
Pelusi, 2019, Rare pathogenic variants predispose to hepatocellular carcinoma in nonalcoholic fatty liver disease, Sci Rep, 9, 3682, 10.1038/s41598-019-39998-2
Di Leo, 2009, Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia, Mol Genet Metab, 96, 66, 10.1016/j.ymgme.2008.10.016
Zhu, 1997, Organ loci of catabolism of short truncations of apoB, Arterioscler Thromb Vasc Biol, 17, 1032, 10.1161/01.ATV.17.6.1032
Tarugi, 2011, Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum, Adv Clin Chem, 54, 81, 10.1016/B978-0-12-387025-4.00004-2
Cariou, 2018, Prevalence of hypobetalipoproteinemia and related psychiatric characteristics in a psychiatric population: results from the retrospective HYPOPSY Study, Lipids Health Dis, 17, 249, 10.1186/s12944-018-0892-4
Cohen, 2006, Sequence variations in PCSK9, low LDL, and protection against coronary heart disease, N Engl J Med, 354, 1264, 10.1056/NEJMoa054013
Schwartz, 2018, Alirocumab and cardiovascular outcomes after acute coronary syndrome, N Engl J Med, 379, 2097, 10.1056/NEJMoa1801174
Sabatine, 2017, Evolocumab and clinical outcomes in patients with cardiovascular disease, N Engl J Med, 376, 1713, 10.1056/NEJMoa1615664
Musunuru, 2010, Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia, N Engl J Med, 363, 2220, 10.1056/NEJMoa1002926
Minicocci, 2012, Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization, J Clin Endocrinol Metab, 97, E1266, 10.1210/jc.2012-1298
Noto, 2012, Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia, Arterioscler Thromb Vasc Biol, 32, 805, 10.1161/ATVBAHA.111.238766
Minicocci, 2013, Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis, J Lipid Res, 54, 3481, 10.1194/jlr.P039875
Di Costanzo, 2017, Clinical and biochemical characteristics of individuals with low cholesterol syndromes: a comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia, J Clin Lipidol, 11, 1234, 10.1016/j.jacl.2017.06.013
Burnett, 2015, Clinical utility gene card for: abetalipoproteinaemia--Update 2014, Eur J Hum Genet, 23
Lee, 2013, Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management, J Inherit Metab Dis, 37, 333, 10.1007/s10545-013-9665-4
Hsiao, 2015, MTTP-297H polymorphism reduced serum cholesterol but increased risk of nonalcoholic fatty liver disease – a cross-sectional study, BMC Med Genet, 16, 93, 10.1186/s12881-015-0242-6
Gündüz, 2016, Microsomal triglyceride transfer protein gene mutations in Turkish children: a novel mutation and clinical follow up, Indian J Gastroenterol, 35, 236, 10.1007/s12664-016-0654-z
Cuchel, 2013, Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study, Lancet, 381, 40, 10.1016/S0140-6736(12)61731-0