A single mutation at Tyr(143) of human S-adenosylhomocysteine hydrolase renders the enzyme thermosensitive and affects the oxidation state of bound cofactor nicotinamide–adenine dinucleotide

Recently, we have described the first human case of AdoHcyase (S-adenosylhomocysteine hydrolase) deficiency. Two point mutations in the AdoHcyase gene, the missense mutation p.Y143C (AdoHcyase in which Tyr(143) is replaced by cysteine) and the truncation mutation p.W112stop (AdoHcyase in which Trp(1...

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Hlavní autoři: Belužić, Robert, Ćuk, Mario, Pavkov, Tea, Fumić, Ksenija, Barić, Ivo, Mudd, S. Harvey, Jurak, Igor, Vugrek, Oliver
Médium: Artigo
Jazyk:Inglês
Vydáno: Portland Press Ltd. 2006
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1652816/
https://ncbi.nlm.nih.gov/pubmed/16872278
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20060749
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