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Rescue of Cystathionine β-Synthase (CBS) Mutants with Chemical Chaperones: PURIFICATION AND CHARACTERIZATION OF EIGHT CBS MUTANT ENZYMES
Missense mutations represent the most common cause of many genetic diseases including cystathionine β-synthase (CBS) deficiency. Many of these mutations result in misfolded proteins, which lack biological function. The presence of chemical chaperones can sometimes alleviate or even restore protein f...
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| Główni autorzy: | , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
American Society for Biochemistry and Molecular Biology
2010
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2871454/ https://ncbi.nlm.nih.gov/pubmed/20308073 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M110.107722 |
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