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

Misfolding of mutant enzymes may play an important role in the pathogenesis of cystathionine β-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...

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Main Authors: Kožich, Viktor, Sokolová, Jitka, Klatovská, Veronika, Krijt, Jakub, Janošík, Miroslav, Jelínek, Karel, Kraus, Jan P, Cooper, David N
Format: Artigo
Sprog:Inglês
Udgivet: Wiley Subscription Services, Inc., A Wiley Company 2010
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2966864/
https://ncbi.nlm.nih.gov/pubmed/20506325
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21273
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