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A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants
(MDPI, 2021-12-18)
Background: Gain of function (GOF) mutations of PCSK9 cause autosomal dominant familial hypercholesterolemia as they reduce the abundance of LDL receptor (LDLR) more efficiently than wild-type PCSK9. In contrast, PCSK9 ...
(r)HDL in Theranostics: How Do We Apply HDL's Biology for Precision Medicine in Atherosclerosis Management?
(Royal Society Of Chemistry, 2021-03-19)
High-density lipoproteins (HDL) are key players in cholesterol metabolism homeostasis since they are responsible for transporting excess cholesterol from peripheral tissues to the liver. Imbalance in this process, due to ...
(r)HDL in theranostics: how do we apply HDL's biology for precision medicine in atherosclerosis management?
(The Royal Society of Chemistry, 2021-05-07)
High-density lipoproteins (HDL) are key players in cholesterol metabolism homeostasis since they are responsible for transporting excess cholesterol from peripheral tissues to the liver. Imbalance in this process, due to ...
MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants
(Elsevier, 2021-11)
Untreated familial hypercholesterolemia (FH) leads to atherosclerosis and early cardiovascular disease. Mutations in the low-density lipoprotein receptor (LDLr) gene constitute the major cause of FH, and the high number ...