Structural and functional consequences of the Milano mutation (R173C) in human apolipoprotein A-I.

@article{Alexander2009StructuralAF,
  title={Structural and functional consequences of the Milano mutation (R173C) in human apolipoprotein A-I.},
  author={Eric T. Alexander and Masafumi Tanaka and Momoe Kono and Hiroyuki Saito and Daniel J. Rader and Michael C Phillips},
  journal={Journal of lipid research},
  year={2009},
  volume={50 7},
  pages={1409-19}
}
Carriers of the apolipoprotein A-I(Milano) (apoA-I(M)) variant, R173C, have reduced levels of plasma HDL but no increase in cardiovascular disease. Despite intensive study, it is not clear whether the removal of the arginine or the introduction of the cysteine is responsible for this altered functionality. We investigated this question using two engineered variations of the apoA-I(M) mutation: R173S apoA-I, similar to apoA-I(M) but incapable of forming a disulfide bond, and R173K apoA-I, a… CONTINUE READING
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