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Conformational properties of nine purified cystathionine beta-synthase mutants

Protein misfolding due to missense mutations is a common pathogenic mechanism in cystathionine beta-synthase (CBS) deficiency. In our previous studies, we have successfully expressed, purified and characterized nine CBS mutant enzymes containing the following patient mutations: P49L, P78R, A114V, R1...

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Detalhes bibliográficos
Main Authors: Hnízda, Aleš, Majtan, Tomas, Liu, Lu, Pey, Angel L., Carpenter, John F., Kodíček, Milan, Kožich, Viktor, Kraus, Jan P.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3384745/
https://ncbi.nlm.nih.gov/pubmed/22612060
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/bi300435e
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