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Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones

Misfolding and aggregation of mutant enzymes have been proposed to play role in the pathogenesis of homocystinuria due to cystathionine β-synthase (CBS) deficiency. Chemical chaperones have been recently shown to facilitate proper assembly of several CBS mutants. To asses the number of patients that...

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Detalhes bibliográficos
Main Authors: Kopecká, Jana, Krijt, Jakub, Raková, Kateřina, Kožich, Viktor
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Netherlands 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3026675/
https://ncbi.nlm.nih.gov/pubmed/20490928
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-010-9087-5
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