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Article

Sepiapterin reductase expression is increased in Parkinson's disease brain tissue.

Brain research - 30 Mar 2007

Tobin Jennifer E, Cui Jing, Wilk Jemma B, Latourelle Jeanne C, Laramie Jason M, McKee Ann C, Guttman Mark, Karamohamed Samer, DeStefano Anita L, Myers Richard H

Abstract excerpt

The PARK3 locus on chromosome 2p13 has shown linkage to both the development and age of onset of Parkinson's disease (PD). One candidate gene at this locus is sepiapterin reductase (SPR). Sepiapterin reductase catalyzes the final step in the biosynthetic pathway of tetrahydrobiopterin (BH(4)), an essential cofactor for aromatic amino acid hydrolases including tyrosine hydroxylase, the rate-limiting enzyme in...

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Identifiers

PMID: 17270157
DOI: 10.1016/j.brainres.2007.01.001
PMCID: PMC1868471

Genes

SPR
CBR1
CBR3
GCH1
PTS

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

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Research trail→

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Sepiapterin reductase expression is increased in Parkinson's disease brain tissue.PMID 17270157Read ↗

Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease.Semantic proximity Read ↗

The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations.Semantic proximity Read ↗

A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study.Semantic proximity Read ↗

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.Semantic proximity Read ↗

Polymorphisms of sepiapterin reductase gene alter promoter activity and may influence risk of bipolar disorder.Semantic proximity Read ↗

Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.Semantic proximity Read ↗

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.Semantic proximity Read ↗

A murine model for human sepiapterin-reductase deficiency.Semantic proximity Read ↗

The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3.Semantic proximity Read ↗

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystoniaSemantic proximity Read ↗

Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.Semantic proximity Read ↗

Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia.Semantic proximity Read ↗

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