1tdw: Difference between revisions

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==Disease==
==Disease==
Known disease associated with this structure: Phenylketonuria OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=261600 261600]], Hyperphenylalaninemia, mild OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=261600 261600]]
Known disease associated with this structure: Phenylketonuria OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349 612349]], Hyperphenylalaninemia, mild OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349 612349]]


==About this Structure==
==About this Structure==
1TDW is a [[Single protein]] structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1TDW OCA].  
1TDW is a 1 chain structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1TDW OCA].  


==Reference==
==Reference==
Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations., Erlandsen H, Pey AL, Gamez A, Perez B, Desviat LR, Aguado C, Koch R, Surendran S, Tyring S, Matalon R, Scriver CR, Ugarte M, Martinez A, Stevens RC, Proc Natl Acad Sci U S A. 2004 Nov 30;101(48):16903-8. Epub 2004 Nov 19. PMID:[http://www.ncbi.nlm.nih.gov/pubmed/15557004 15557004]
<ref group="xtra">PMID:15557004</ref><references group="xtra"/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Phenylalanine 4-monooxygenase]]
[[Category: Phenylalanine 4-monooxygenase]]
[[Category: Single protein]]
[[Category: Aguado, C.]]
[[Category: Aguado, C.]]
[[Category: Desviat, L R.]]
[[Category: Desviat, L R.]]
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[[Category: Phenylalanine catabolism]]
[[Category: Phenylalanine catabolism]]


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Revision as of 01:44, 18 February 2009

File:1tdw.png

Template:STRUCTURE 1tdw

Crystal structure of double truncated human phenylalanine hydroxylase BH4-responsive PKU mutant A313T.Crystal structure of double truncated human phenylalanine hydroxylase BH4-responsive PKU mutant A313T.

Template:ABSTRACT PUBMED 15557004

DiseaseDisease

Known disease associated with this structure: Phenylketonuria OMIM:[612349], Hyperphenylalaninemia, mild OMIM:[612349]

About this StructureAbout this Structure

1TDW is a 1 chain structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.

ReferenceReference

[xtra 1]

  1. Erlandsen H, Pey AL, Gamez A, Perez B, Desviat LR, Aguado C, Koch R, Surendran S, Tyring S, Matalon R, Scriver CR, Ugarte M, Martinez A, Stevens RC. Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. Proc Natl Acad Sci U S A. 2004 Nov 30;101(48):16903-8. Epub 2004 Nov 19. PMID:15557004

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