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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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| Hauptverfasser: | , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Springer Netherlands
2010
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| Schlagworte: | |
| Online Zugang: | 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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