Adenylosuccinate synthetase deficiency and purine nucleotide cycle disruption impair neuromuscular function in Caenorhabditis elegans.

doi:10.1016/j.ymgme.2025.109261

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Article

Adenylosuccinate synthetase deficiency and purine nucleotide cycle disruption impair neuromuscular function in Caenorhabditis elegans.

Molecular genetics and metabolism - 1 Nov 2025

Patil Rishika R, Franklin Latisha P, Jin Melinda D, Hanna-Rose Wendy

Abstract excerpt

The critical role of the purine nucleotide cycle (PNC) in human health is underscored by the fact that mutations in adenylosuccinate synthetase (ADSS) and adenylosuccinate lyase (ADSL), two of its three enzymes, are associated with severe inborn errors of purine metabolism. We use Caenorhabditis elegans to investigate the biological roles of the PNC and to characterize developmental and behavioral functions of...

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Topics

Animals
Caenorhabditis elegans
Adenylosuccinate Synthase
Neuromuscular Junction
Adenylosuccinate Lyase
Caenorhabditis elegans Proteins

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

Purine Nucleotides

Synaptic Transmission

Phenotype

Mutation

Purine-Pyrimidine Metabolism, Inborn Errors

Locomotion

Humans

Source

Open in PubMed Open full text

Identifiers

PMID: 41101294
DOI: 10.1016/j.ymgme.2025.109261
PMCID: PMC12558026

Genes

ADSL
ADSS1

Provenance

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