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The phenylketonuria-associated substitution R68S converts phenylalanine hydroxylase to a constitutively active enzyme but reduces its stability

The naturally occurring R68S substitution of phenylalanine hydroxylase (PheH) causes phenylketonuria (PKU). However, the molecular basis for how the R68S variant leads to PKU remains unclear. Kinetic characterization of R68S PheH establishes that the enzyme is fully active in the absence of alloster...

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Podrobná bibliografie
Vydáno v:J Biol Chem
Hlavní autoři: Khan, Crystal A., Meisburger, Steve P., Ando, Nozomi, Fitzpatrick, Paul F.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Biochemistry and Molecular Biology 2019
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6433070/
https://ncbi.nlm.nih.gov/pubmed/30674554
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA118.006477
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