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

@article{Soufi2012TheIO,
  title={The impact of severe LDL receptor mutations on SREBP-pathway regulation in homozygous familial hypercholesterolemia (FH).},
  author={Muhidien Soufi and Volker Ruppert and Bilgen Kurt and Juergen R Schaefer},
  journal={Gene},
  year={2012},
  volume={499 1},
  pages={218-22}
}
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 have shown a crucial regulatory role of the SREBP-pathway for cellular cholesterol homeostasis in these diseases. Since cholesterol is an essential structural component of cells, we assessed the impact… CONTINUE READING

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