2021年11月23日 · The LDLR (low-density lipoprotein receptor) in the liver is the major determinant of LDL-cholesterol levels in human plasma. The discovery of genes that regulate the activity of LDLR helps to identify pathomechanisms of hypercholesterolemia and novel therapeutic targets against atherosclerotic cardiovascular disease.

PCSK9是近年来新发现的常染色体显性高胆固醇血症相关基因, 其编码蛋白可以与肝细胞表面 低密度脂蛋白受体 (low density lipoprotein receptor, LDLR) 结合, 构成复合物并靶向转运到溶酶体内进行降解, 从而阻断LDLR在细胞膜表面的循环途径, 抑制低密度脂蛋白胆固醇 (low ...

2017年11月1日 · AAV8-LDLr gene transfer induced a strong reduction of plasma cholesterol and lipoprotein levels, which then resulted in the attenuation of cardiac hypertrophy and decreased lung congestion as well as mortality after TAC 1 (Figure 1).

Knockout of SRBI in either ApoE−/− mice or LDLR−/− mice causes an increase in larger HDL particles, highlighting the role of SRBI in reverse cholesterol transport [28, 197, 203]. Absence of SRBI in LDLR−/− mice lead to a sixfold increase in diet-induced atherosclerosis [28].

低密度脂蛋白受体（low density lipoprotein receptor, LDLR）参与胆固醇的代谢过程，在维持机体细胞胆固醇稳态中发挥着重要作用。 LDLR的表达受到转录、转录后及翻译后水平的精确调节，其表达失调将导致多种疾病的发生发展。

We established a platform for in-depth functional profiling of LDLR variants regarding cellular LDL uptake and LDLR expression, utilizing robotics and multiplexed high-content microscopy. This is the largest study providing functional data on cellular LDLR activity for 315 LDLR variants.

2025年3月1日 · PCSK9 is an enzyme that controls the metabolism of LDL-C by degrading the low-density lipoprotein receptor (LDLR), which in turn affects the metabolism of LDL-C. A newly discovered Long Non-coding RNA named LASER, which affects the homeostasis of cholesterol, has been identified through the evaluation of bioinformatics.

2023年9月22日 · 在13月龄，小鼠的动脉粥样硬化病变从颈动脉、心脏和主动脉扩展到肾动脉和髂分叉。 LDLR-/-在正常饮食情况，不会出现动脉粥样硬化斑块，需要 高胆固醇饲料 诱导。 高胆固醇饲料喂养12周后，小鼠出现主动脉广泛的内膜增厚及60%-80%表面 苏丹染色 阳性。

LDL受体 最先从牛肾上腺分离出LDL受体，以后又分离了编码牛LDL受体羟基末端1/3氨基酸的cDNA，并初步阐明了牛LDL受体的cDNA，并且推导出人LDL受体的氨基酸序列。 （一）LDL受体结构. LDL受体是一种多功能蛋白，由836个氨基酸残基组成36面体结构蛋白，分子量约115ku，由五种不同的区域构成，各区域有其独特的功能，见图4-6. 图4-6 LDL受体与VLDL受体结构示意图. 1.配体结合结构域配体结合结构域由292个氨基酸残基组成，其中共有47个半胱氨酸（Cys）。

The proprotein convertase subtilisin kexin type 9 (PCSK9) gene encodes a hepatic secretory protein, and its mutations are strongly associated with levels of LDL-C. We and others have shown that PCSK9 directly interacts with LDLR on the cell surface and both are internalized through the clathrin-coated vesicles.

基于配体竞争分析，ApoE2与低密度脂蛋白受体（LDLR）的结合存在缺陷是最显著的ApoE亚型特异性生化特征之一。 先前的研究共性使得研究人员推测，脂质化ApoE（lipApoE）与LDLR结合的减少可能是降低AD风险的一种机制。 研究结果 LDLR是lipApoE的关键受体。

2025年3月12日 · PCSK9 prevents the acidic pH–induced conformational change in LDLR and blocks its interaction with SNX17. Knocking down SNX17 abolishes PCSK9-mediated LDLR degradation. Any FH sequence variations that disrupt LDLR recycling are unresponsive to PCSK9 or PCSK9 inhibitors, even though they can internalize LDL.

2019年5月2日 · Following TAC surgery, about 90% of ApoE –/– mice developed coronary lesions, especially in the left anterior descending artery, with 59% of the mice manifesting a different magnitude of LAD stenosis. Myocardial events, identified in 74% of the mice, were mainly due to coronary plaque thrombosis and occlusion.

The interaction between PCSK9 and LDLR locks the receptor in its open conformation in the endosome and routes the ligand–receptor pair to the lysosomal compartment for degradation, thus inhibiting the LDLR recycling that follows internalization of ligands, such as apoB on LDL and apoE (apolipoprotein E) on remnants. 16 – 19 In other words ...

2021年5月12日 · In this review, we focus on the discovery, structure, and normal function of the LDL receptor, as well as its role in a selection of infections. The LDL receptor plays an important role in certain infections and is a potential target for treatment deserving further research.

LDLR regulator-1 (Compound 7b) 是一种低密度脂蛋白受体 (LDLR) 调节剂，能够增加 LDLR 的 mRNA 表达。 20-HC-Me-Pyrrolidine 是一种有效的 Aster 蛋白抑制剂，对 Aster-A、Aster-B 和 Aster-C 的 IC50 分别为 0.11 μM、0.06 μM 和 0.71 μM。 20-HC-Me-Pyrrolidine 阻止 Aster 蛋白结合和转移胆固醇。 20-HC-Me-Pyrrolidine 还抑制低密度脂蛋白 (LDL) 胆固醇向内质网 (ER) 的移动。

2025年2月7日 · 为了扩充有限的用于 TPD 的溶酶体穿梭受体库，研究人员利用癌症基因组图谱（TCGA）的数据，检测并比较了多种溶酶体靶向受体（LTRs），包括甘露糖 - 6 - 磷酸受体（M6PR）、去唾液酸糖蛋白受体（ASGPR）、低密度脂蛋白受体（LDLR）、转铁蛋白受体（TFRC）、整合素 ...

2024年12月25日 · LDLR (Low Density Lipoprotein Receptor) is a Protein Coding gene. Diseases associated with LDLR include Hypercholesterolemia, Familial, 1 and Homozygous Familial Hypercholesterolemia. Among its related pathways are Familial hyperlipidemia type 1 and Statin inhibition of cholesterol production.

2024年12月5日 · 该研究揭示抑制酯化APOE与LDLR的结合通过减少脂褐素沉积和促进溶酶体功能降低阿尔兹海默症风险或疾病进展，不仅强调APOE3-Christchurch和APOE2变体的保护机制，也为开发新的治疗策略提供思考。 酯化APOE （lipAPOE） 暴露受体结合位点从而与LDLR结合。

本专题将讨论对家族性高胆固醇血症 (familial hypercholesterolemia, FH)相关3种基因进行基因检测后的结果解读和可能的诊疗变化，这3种基因包括： LDLR 、 APOB 和 PCSK9。