Second, the levels of LDLR
mRNA became elevated, thus suggesting an increase in the uptake of serum LDL, especially by the liver.
Adenoviral-mediated expression of PCSK9 in mice was associated with a phenotype similar to the LDLR
knockout phenotype (55).
Binding of LDLs to the LDLR
is mediated by interactions between the LDLR
and the Apo B-100 lipoprotein.
12) The promoter and the 18 exons of the LDLR
gene (including about 50 bp of the intronic boundaries) and APOB gene regions (exons 26 and 29) were mutations causing FDB have been described were analyzed.
100] and this is now in the appropriate conformation for binding to the LDLR
3] Human genes: LDLR
, low density lipoprotein receptor; APOB, apolipoprotein B (including Ag(x) antigen); PCSK9, proprotein convertase subtilisin/kexin type 9.
In these cases, forty two cases were found high LDL-C, xanthelasmas, tendon xanthomas and arcus cornea with exons 3, 4 mutation of LDLR
Another study (62) demonstrated potential interactions of APO E [epsilon]2/[epsilon]3/[epsilon]4 and LDLR
C 1773T polymorphisms with the risk of having an episode of ischaemic stroke in northern Han Chinese population.
3) In this group, 3 mutations were identified in the LDLR
in addition, new data will also be presented showing that lowering of PCSK9 in an LDLR
heterozygous animal model of familial hypercholesterolemia results in a significant lowering of total cholesterol;
The results of qRT-PCR, western blotting and ELISA revealed that jatrorrhizine significantly up-regulated the mRNA and protein expression of LDLR
and CYP7A1, but exhibited no significant effect on mRNA and protein expression of HMGR and ASBT in hamsters.
Three different genes have been causally linked to autosomal dominant hypercholesterolemia (MIM #143890): the low density lipoprotein receptor gene (LDLR
)  (MIM #606945), which encodes a cell surface receptor that removes LDL from plasma (1); the apolipoprotein B (including Ag(x) antigen) gene (APOB) (MIM #107730), which encodes the main ligand for the LDL receptor (2); and the proprotein convertase subtilisin/kexin type 9 gene (PCSK9) (MIM #607786), which encodes a serum protease of which overexpression reduces LDLR
protein concentrations by a mechanism that is still unclear (3, 4).