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Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria

Nature Structural Biology volume 4, pages 995–1000 (1997)Cite this article

The 2.0 Å crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals a fold similar to that of tyrosine hydroxylase. It provides the first structural view of where mutations occur and a rationale to explain molecular mechanisms of the enzymatic phenotypes in the autosomal recessive disorder phenylketoneuria.

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Author notes

  1. Fabrizia Fusetti

    Present address: Laboratory of Biophysical Chemistry, Chemistry Department, University of Groningen, Nijenborgh 4, 9747 AG, Groningen, The Netherlands

Authors and Affiliations

  1. Protein Crystallography Group, Chemistry Department, Institute of Physical and Mathematical Sciences, University of Tromsø, N-9037, Tromsø, Norway

    Heidi Erlandsen & Edward Hough

  2. Department of Chemistry, University of California, Berkeley, California, 94720, USA

    Fabrizia Fusetti & Raymond C. Stevens

  3. Department of Biochemistry and Molecular Biology, University of Bergen, Årstadveien 19, N-5009, Bergen, Norway

    Aurora Martinez & Torgeir Flatmark

  4. the Physical Biosciences Division at Lawrence Berkeley National Laboratory, California, 94720, USA

    Fabrizia Fusetti & Raymond C. Stevens

Authors
  1. Heidi Erlandsen
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  2. Fabrizia Fusetti
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  3. Aurora Martinez
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  4. Edward Hough
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  5. Torgeir Flatmark
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  6. Raymond C. Stevens
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Erlandsen, H., Fusetti, F., Martinez, A. et al. Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria. Nat Struct Mol Biol 4, 995–1000 (1997). https://doi.org/10.1038/nsb1297-995

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