Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Phenylalanine hydroxylase gene in psychiatric patients: screening and functional assay of mutations.

Biological psychiatry - 15 Mar 2003

Richardson Mary Ann, Read Laura L, Clelland James D, Chao Helen M, Reilly Margaret A, Romstad Anne, Suckow Raymond F

Abstract excerpt

BACKGROUND: Reports relating phenylalanine kinetics and metabolism to psychiatric disorders led us to undertake the comprehensive screening of the phenylalanine hydroxylase (PAH) coding region and functional testing of discovered mutations in a sample of psychiatric patients and healthy control subjects. METHODS: Genomic DNA from psychiatric patients and control subjects was assayed for sequence variants in all...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Mutational Analysis
Share to Gene Expression

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mass Screening

Share to Mutation, Missense

Share to Phenylalanine Hydroxylase

Share to Psychotic Disorders

Share to Pterins

Share to Schizophrenia

Source

Identifiers

PMID: 12644360
DOI: 10.1016/s0006-3223(02)01528-7

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 11 closest

Phenylalanine hydroxylase gene in psychiatric patients: screening and functional assay of mutations.PMID 12644360Read ↗

Aromatic amino acid hydroxylase genes and schizophrenia.Semantic proximity Read ↗

A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics.Semantic proximity Read ↗

In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations.Semantic proximity Read ↗

The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency.Semantic proximity Read ↗

Investigation of the phenylalanine hydroxylase gene and tardive dyskinesia.Semantic proximity Read ↗

Polymorphisms in genes implicated in dopamine, serotonin and noradrenalin metabolism suggest association with cerebrospinal fluid monoamine metabolite concentrations in psychosis.Semantic proximity Read ↗

Of mice and men: Plasma phenylalanine reduction in PKU corrects neurotransmitter pathways in the brain.Semantic proximity Read ↗

In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function.Semantic proximity Read ↗

Molecular basis of phenotypic heterogeneity in phenylketonuria.Semantic proximity Read ↗

The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response.Semantic proximity Read ↗

13C-phenylalanine breath test and serum biopterin in schizophrenia, bipolar disorder and major depressive disorder.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.