scholarly journals The molecular basis of phenylalanine hydroxylase deficiency in Croatia

2003 ◽  
Vol 21 (4) ◽  
pp. 399-399 ◽  
Author(s):  
Johannes Zschocke ◽  
Astrid Preusse ◽  
Vladimir Sarnavka ◽  
Ksenija Fumic ◽  
Du?ko Marde?ic ◽  
...  
Keyword(s):  
Molecular Basis ◽  
Phenylalanine Hydroxylase ◽  
Hydroxylase Deficiency

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1999 ◽  
Vol 135 (3) ◽  
pp. 375-378 ◽  
Author(s):  
Shigeo Kure ◽  
Dian-Chang Hou ◽  
Toshihiro Ohura ◽  
Hiroko Iwamoto ◽  
Shuhei Suzuki ◽  
...  
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Hydroxylase Deficiency

scholarly journals Molecular characterization of phenylalanine hydroxylase deficiency in Chile

1999 ◽  
Vol 13 (6) ◽  
pp. 503-503 ◽  
Author(s):  
Bel�n P�rez ◽  
Lourdes R. Desviat ◽  
Marisel De Lucca ◽  
Veronica Cornejo ◽  
Erna Raimann ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Phenylalanine Hydroxylase ◽  
Hydroxylase Deficiency

The Mutant Genotype Is the Main Determinant of the Metabolic Phenotype in Phenylalanine Hydroxylase Deficiency

1999 ◽  
Vol 68 (1) ◽  
pp. 43-47 ◽  
Author(s):  
Paule Bénit ◽  
Françoise Rey ◽  
Félicienne Blandin-Savoja ◽  
Arnold Munnich ◽  
Véronique Abadie ◽  
...  
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Metabolic Phenotype ◽  
Hydroxylase Deficiency ◽  
Mutant Genotype ◽  
Main Determinant

Structural Studies on Phenylalanine Hydroxylase and Implications Toward Understanding and Treating Phenylketonuria

PEDIATRICS ◽  
2003 ◽  
Vol 112 (Supplement_4) ◽  
pp. 1557-1565
Author(s):  
Heidi Erlandsen ◽  
Marianne G. Patch ◽  
Alejandra Gamez ◽  
Mary Straub ◽  
Raymond C. Stevens
Keyword(s):  
Molecular Basis ◽  
Phenylalanine Hydroxylase ◽  
Structural Information ◽  
Missense Mutations ◽  
Structural Studies ◽  
Gene Encoding ◽  
X Ray ◽  
3 Dimensional ◽  
Substrate Analogs ◽  
Structure Determinations

Mutations 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.

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

2001 ◽  
Vol 24 (3) ◽  
pp. 352-358 ◽  
Author(s):  
L. J. M. Spaapen ◽  
J. A. Bakker ◽  
C. Velter ◽  
W. Loots ◽  
M. E. Rubio-Gonzalbo ◽  
...  
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Hydroxylase Deficiency
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