Article

Functional analysis of<i>LDLR</i>variants reveals that the novel p.(Ser610Tyr) variant in the YMDD motif drastically impacts LDL uptake

2025-05-29

Abstract excerpt

<h4>Background and Aims</h4> Familial hypercholesterolemia (FH) is an inherited metabolic disease characterized by high low-density lipoprotein cholesterol (LDL-c) levels, leading to premature cardiovascular events. The heterozygous form (HeFH) affects 1 in 313 people, while the homozygous form (HoFH) affects 1 in 360,000. FH is primarily caused by pathogenic variants in the LDLR gene (79%), with other genes like...

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Literature Corpus work: b5695e39-0997-5054-bbb2-fd097f130bf2
DOI: 10.1101/2025.05.16.25325576

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