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Article

Comprehensive bioinformatics analysis of structural and functional consequences of deleterious missense mutations in the human QDPR gene.

Journal of biomolecular structure & dynamics - 1 Jul 2024

Girish Aishwarya, Sutar Samruddhi, Murthy T P Krishna, Premanand Suheeth Amberi, Garg Vrinda, Patil Lavan, Shreyas S, Shukla Rohit, Yadav Arvind Kumar, Singh Tiratha Raj

Abstract excerpt

Quinonoid dihydropteridine reductase (QDPR) is an enzyme that regulates tetrahydrobiopterin (BH4), a cofactor for enzymes involved in neurotransmitter synthesis and blood pressure regulation. Reduced QDPR activity can cause dihydrobiopterin (BH2) accumulation and BH4 depletion, leading to impaired neurotransmitter synthesis, oxidative stress, and increased risk of Parkinson's disease. A total of 10,236 SNPs were...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 37382215
DOI: 10.1080/07391102.2023.2226740

Genes

QDPR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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