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TitleCorrection of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.
Journal, issue, pagesProc. Natl. Acad. Sci. Usa, Vol. 101, Page 16903-16908, Year 2004
Publish dateMay 24, 2004 (structure data deposition date)
AuthorsErlandsen, H. / Pey, A.L. / Gamez, A. / Perez, B. / Desviat, L.R. / Aguado, C. / Koch, R. / Surendran, S. / Tyring, S. / Matalon, R. ...Erlandsen, H. / Pey, A.L. / Gamez, A. / Perez, B. / Desviat, L.R. / Aguado, C. / Koch, R. / Surendran, S. / Tyring, S. / Matalon, R. / Scriver, C.R. / Ugarte, M. / Martinez, A. / Stevens, R.C.
External linksProc. Natl. Acad. Sci. Usa / PubMed:15557004
MethodsX-ray diffraction
Resolution2.1 - 2.2 Å
Structure data

PDB-1tdw:
Crystal structure of double truncated human phenylalanine hydroxylase BH4-responsive PKU mutant A313T.
Method: X-RAY DIFFRACTION / Resolution: 2.1 Å

PDB-1tg2:
Crystal structure of phenylalanine hydroxylase A313T mutant with 7,8-dihydrobiopterin bound
Method: X-RAY DIFFRACTION / Resolution: 2.2 Å

Chemicals

ChemComp-FE:
Unknown entry

ChemComp-HOH:
WATER

ChemComp-H2B:
2-AMINO-6-(1,2-DIHYDROXY-PROPYL)-7,8-DIHYDRO-6H-PTERIDIN-4-ONE

Source
  • homo sapiens (human)
KeywordsOXIDOREDUCTASE / phenylalanine catabolism / phenylalanine hydroxylase phenylketonuria mutant A313T in complex with cofactor analogue 7 / 8-dihydrobiopterin

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