Cystathionine β-Synthase Mutations: Effect of Mutation Topology on Folding and Activity

@inproceedings{Koich2010CystathionineM,
  title={Cystathionine β-Synthase Mutations: Effect of Mutation Topology on Folding and Activity},
  author={Viktor Ko{\vz}ich and Jitka Sokolov{\'a} and Veronika Klatovsk{\'a} and Jakub Krijt and Miroslav Jano{\vs}{\'i}k and Karel Jel{\'i}nek and Jan P Kraus and David N. Cooper},
  booktitle={Human mutation},
  year={2010}
}
Misfolding of mutant enzymes may play an important role in the pathogenesis of cystathionine beta-synthase (CBS) deficiency. We examined properties of a series of 27 mutant variants, which together represent 70% of known alleles observed in patients with homocystinuria due to CBS deficiency. The median amount of SDS-soluble mutant CBS polypeptides in the pellet after centrifugation of bacterial extracts was increased by 50% compared to the wild type. Moreover, mutants formed on average only 12… CONTINUE READING
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