The impact of severe LDL receptor mutations on SREBP-pathway regulation in homozygous familial hypercholesterolemia (FH)

Familial hypercholesterolemia (FH), Niemann–Pick disease type C (NPC) and Tangier disease (TD) are genetic inherited disorders with impaired processing of cholesterol, caused by mutations in genes that regulate cellular uptake, intracellular movement and transport of cholesterol. Various studies hav...

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Veröffentlicht in:	Gene 2012-05, Vol.499 (1), p.218-222
Hauptverfasser:	Soufi, Muhidien, Ruppert, Volker, Kurt, Bilgen, Schaefer, Juergen R.
Format:	Artikel
Sprache:	eng
Schlagworte:	ABCA1 Adult ATP Binding Cassette Transporter 1 ATP-Binding Cassette Transporters - genetics ATP-Binding Cassette Transporters - metabolism ATP-Binding Cassette Transporters - physiology Cells, Cultured cholesterol Familial hypercholesterolemia Female fibroblasts Fibroblasts - metabolism Fibroblasts - pathology gene expression genes genetic disorders HEK293 Cells heterozygosity homeostasis homozygosity Homozygote Humans hypercholesterolemia Hyperlipoproteinemia Type II - genetics Hyperlipoproteinemia Type II - metabolism Hyperlipoproteinemia Type II - pathology LDL receptor low density lipoprotein Male Models, Biological mutation Mutation - physiology patients Primary Cell Culture receptors Receptors, LDL - genetics Scavenger Receptors, Class B - genetics Scavenger Receptors, Class B - metabolism Scavenger Receptors, Class B - physiology Severity of Illness Index Signal Transduction - genetics Signal Transduction - physiology SR-BI SREBP pathway Sterol Regulatory Element Binding Proteins - genetics Sterol Regulatory Element Binding Proteins - metabolism Twins, Monozygotic
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