𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype–phenotype correlations in phenylketonuria

✍ Scribed by Jennings, Ian G; Cotton, Richard GH; Kobe, Bostjan


Book ID
110025011
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
930 KB
Volume
8
Category
Article
ISSN
1018-4813

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Phenylketonuria: Genotype–phenotype corr
✍ Angel L. Pey; Lourdes R. Desviat; Alejandra Gámez; Magdalena Ugarte; Belén Pérez 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 272 KB

When analyzed in the context of the phenylalanine hydroxylase (PAH) three-dimensional structure, only a minority of the PKU mutations described world-wide affect catalytic residues. Consistent with these observations, recent data point to defective folding and subsequent aggregation/degradation as a

In vitro expression analysis of mutation
✍ Paula J. Waters; Michael A. Parniak; Piotr Nowacki; Charles R. Scriver 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 231 KB 👁 2 views

Mutations in the human phenylalanine hydroxylase gene (PAH) altering the expressed cDNA nucleotide sequence (GenBank U49897) can impair activity of the corresponding enzyme product (hepatic phenylalanine hydroxylase, PAH) and cause hyperphenylalaninemia (HPA), a metabolic phenotype for which the maj