Natural phenylalanine hydroxylase variants that confer a mild phenotype affect the enzyme's conformational stability and oligomerization equilibrium.

doi:10.1016/j.bbadis.2011.07.012

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Article

Natural phenylalanine hydroxylase variants that confer a mild phenotype affect the enzyme's conformational stability and oligomerization equilibrium.

Biochimica et biophysica acta - 1 Nov 2011

Cerreto Monica, Cavaliere Paola, Carluccio Carla, Amato Felice, Zagari Adriana, Daniele Aurora, Salvatore Francesco

Abstract excerpt

Hyperphenylalaninemias are genetic diseases prevalently caused by mutations in the phenylalanine hydroxylase (PAH) gene. The wild-type PAH enzyme is a homotetramer regulated by its substrate, cofactor and phosphorylation. We reproduced a full-length wild-type protein and seven natural full-length PAH variants, p.I65M, p.N223Y, p.R297L, p.F382L, p.K398N, p.A403V, and p.Q419R, and analyzed their biochemical and...

Topics

Biopterins
Circular Dichroism
Enzyme Stability
HeLa Cells
Humans
Immunoblotting
Mutagenesis, Site-Directed
Mutation
Phenotype
Phenylalanine Hydroxylase
Phenylketonurias
Protein Conformation
Protein Folding
Protein Multimerization

Source

Open in PubMed

Identifiers

PMID: 21820508
DOI: 10.1016/j.bbadis.2011.07.012

Genes

Variants

Provenance

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