Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve Pubget Overpricing |
lüll Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria Erlandsen H; Patch MG; Gamez A; Straub M; Stevens RCPediatrics 2003[Dec]; 112 (6 Pt 2): 1557-65Mutations in the gene encoding for phenylalanine hydroxylase (PAH) result in phenylketonuria (PKU) or hyperphenylalaninemia (HPA). Several 3-dimensional structures of truncated forms of PAH have been determined in our laboratory and by others, using x-ray crystallographic techniques. These structures have allowed for a detailed mapping of the >250 missense mutations known to cause PKU or HPA found throughout the 3 domains of PAH. This structural information has helped formulate rules that might aid in predicting the likely effects of unclassified or newly discovered PAH mutations. Also, with the aid of recent crystal structure determinations of co-factor and substrate analogs bound at the PAH active site, the recently discovered tetrahydrobiopterin-responsive PKU/HPA genotypes can be mapped onto the PAH structure, providing a molecular basis for this tetrahydrobiopterin response.|*Mutation, Missense[MESH]|*Point Mutation[MESH]|Amino Acid Sequence[MESH]|Animals[MESH]|Biopterins/*analogs & derivatives/therapeutic use[MESH]|Crystallography, X-Ray[MESH]|Genotype[MESH]|Humans[MESH]|Models, Molecular[MESH]|Molecular Sequence Data[MESH]|Phenylalanine Hydroxylase/*chemistry/*genetics[MESH]|Phenylketonurias/diet therapy/drug therapy/*genetics[MESH]|Protein Conformation[MESH]|Protein Structure, Secondary[MESH] |