A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria-Reference-Cited by-同舟云学术

A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria

Published:2001-04 Issue:2 Volume:24 Page:213-230
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Erlandsen H.¹,Stevens R. C.¹

Affiliation:

1. ; Department of Molecular Biology and Institute for Childhood and Neglected Diseases, La Jolla; The Scripps Research Institute; CA 92037 USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1010371002631/fullpdf

Reference34 articles.

1. The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase de¢ciency;Benit;Mol Genet Metab,1999

2. Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria;BjÖrgo;Eur J Biochem,1998

3. Thermodynamic analysis of cavity creating mutations in an engineered leucine zipper and energetics of glycerol-induced coiled coil stabilization;Durr;Bio-chemistry,2000

4. The structural basis of phenylketonuria;Erlandsen;Mol Genet Metab,1999

5. Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria;Erlandsen;Nature Struct Biol,1997

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