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Article

Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants.

Biochimica et biophysica acta - 1 Jun 2008

Daniele Aurora, Cardillo Giuseppe, Pennino Cinzia, Carbone Maria T, Scognamiglio Domenico, Esposito Luciana, Correra Antonio, Castaldo Giuseppe, Zagari Adriana, Salvatore Francesco

Abstract excerpt

Hyperphenylalaninemia is a group of autosomal recessive disorders caused by a wide range of phenylalanine hydroxylase (PAH) gene variants. To study the effects of mutations on PAH activity, we have reproduced five mutations (p.N223Y, p.R297L, p.F382L, p.K398N and p.Q419R) that we recently identified in a population of Southern Italy. Transient expression of mutant full-length cDNAs in human HEK293 cells yielded...

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Identifiers

PMID: 18346471
DOI: 10.1016/j.bbadis.2008.01.012

Genes

PAH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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