Original paper

Intracellular cholesterol accumulation and coenzyme Q10 deficiency in Familial Hypercholesterolemia

Volume: 1864, Issue: 12, Pages: 3697 - 3713
Published: Dec 1, 2018
Abstract
Familial Hypercholesterolemia (FH) is an autosomal co-dominant genetic disorder characterized by elevated low-density lipoprotein (LDL) cholesterol levels and increased risk for premature cardiovascular disease. Here, we examined FH pathophysiology in skin fibroblasts derived from FH patients harboring heterozygous mutations in the LDL-receptor. Fibroblasts from FH patients showed a reduced LDL-uptake associated with increased intracellular...
Paper Details
Title
Intracellular cholesterol accumulation and coenzyme Q10 deficiency in Familial Hypercholesterolemia
Published Date
Dec 1, 2018
Volume
1864
Issue
12
Pages
3697 - 3713
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