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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Main Authors: Majtan, Tomas, Liu, Lu, Carpenter, John F., Kraus, Jan P.
פורמט: Artigo
שפה:Inglês
יצא לאור: American Society for Biochemistry and Molecular Biology 2010
נושאים:
Protein Structure and Folding
גישה מקוונת: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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