Research paperFamilial defective apolipoprotein B-100: detection in the United Kingdom and Scandinavia, and clinical characteristics of ten cases
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Apolipoprotein B levels, APOB alleles, and risk of ischemic cardiovascular disease in the general population, a review
2009, AtherosclerosisCitation Excerpt :These studies were all carried out using a design with simultaneously injection of labeled carrier LDL and differently labeled non-carrier LDL into the same individual, thus reducing interindividual variation, because carrier and non-carrier LDL is metabolized at the same time under exact the same conditions. The R3500Q/W mutations are known to cause familial defective apolipoprotein B-100 (FDB, OMIM 144010) characterized by severe hypercholesterolemia (Fig. 7) [11,50,56]. Both mutations have reduced LDL fractional catabolic rate by 33–70% in human in vivo turnover studies [13,57,58], and similarly reduced LDL receptor affinity by 75% in in vitro fibroblast binding studies [10,51,54,55,59].
Familial defective apolipoprotein B-100 in Slovakia. Are differences in prevalence of familial defective apolipoprotein B-100 explained by ethnicity?
2007, AtherosclerosisCitation Excerpt :Homozygotes with FDB may also have milder hypercholesterolemia and cardiovascular complications than homozygotes with FH [34,35]. However, other groups reported no differences in lipid parameters between FDB and FH patients [39]. Our probands with FDB had no significant differences in total cholesterol and LDL-cholesterol when compared with FH.
A new but frequent mutation of apoB-100 - ApoB His3543Tyr
2004, AtherosclerosisIs there a genetic basis for resistance to atherosclerosis?
2002, AtherosclerosisThe Molecular Mechanism for the Genetic Disorder Familial Defective Apolipoprotein B100
2001, Journal of Biological Chemistry