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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...
| Autores principales: | , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Springer Netherlands
2010
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3026675/ https://www.ncbi.nlm.nih.gov/pubmed/20490928 http://dx.doi.org/10.1007/s10545-010-9087-5 |