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Article

Expression analysis of phenylketonuria mutations. Effect on folding and stability of the phenylalanine hydroxylase protein.

The Journal of biological chemistry - 22 Sept 2000

Gámez A, Pérez B, Ugarte M, Desviat L R

Abstract excerpt

Phenylketonuria is an autosomal recessive human genetic disease caused by mutations in the phenylalanine hydroxylase (PAH) gene. In the present work we have used different expression systems to reveal folding defects of the PAH protein caused by phenylketonuria mutations L348V, S349L, and V388M....

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Source

Identifiers

PMID: 10875932
DOI: 10.1074/jbc.M003231200

Genes

PAH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10875932-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Expression analysis of phenylketonuria mutations. Effect on folding and stability of the phenylalanine hydroxylase protein.PMID 10875932Read ↗

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