ArticleCell2013
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.
Article in Cell, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers.
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Who cites it
67 citing papers in PubMed, 113 citations in OpenAlex.
- Functional Characterization of a Novel Splice-Altering Intronic Variant in AMPD2 Associated with Pontocerebellar Hypoplasia Type 9.Cerebellum (London, England) · 2026Article
- Pontocerebellar hypoplasia type 9 with a novel combination of compound heterozygous variants in AMPD2.Human genome variation · 2026Article
- Glycine Drives IMP Production in Hybrid Bream (Megalobrama Amblycephala ♀ × Culter Alburnus ♂) Via Concerted Action: Activating glycyl-tRNA Synthetase and Fueling the Pentose Phosphate Pathway.Marine biotechnology (New York, N.Y.) · 2026Article
- Morin Alleviates Fructose-Driven Disturbance of Podocyte Mitochondrial Energy Metabolism by Inhibiting Adenosine 5'-Monophosphate Deaminase Activity to Improve Glomerular Injury.Pharmaceuticals (Basel, Switzerland) · 2025Article
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- Metabolic functions for molecular chaperones and stress proteins in microcephaly.Cellular and molecular life sciences : CMLS · 2025Review
- Persistent open chromatin state in early-life stress-activated cells of the VTA.Scientific reports · 2025Article
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- The diagnosis and treatment of disorders of nucleic acid/nucleotide metabolism associated with epilepsy.Acta epileptologica · 2025Review
- Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.CNS neuroscience & therapeutics · 2025Review
- Pontocerebellar hypoplasia: a review from 1912 to 2022.Brain communications · 2025Review
- Pontocerebellar Hypoplasia Type 9: A New Case with a Novel Mutation and Review of Literature.Journal of pediatric genetics · 2024Article
- IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency.EMBO reports · 2024Article
- Article
- Pontocerebellar Hypoplasia Type 9: A Case Study Highlighting Distinctive Magnetic Resonance Imaging Features.Cureus · 2024Article
- Modulation of nucleotide metabolism by picornaviruses.PLoS pathogens · 2024Article
- Frameshift Variant inGenes · 2024Article
- Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.BMC medical genomics · 2024Article
- Inborn Errors of Purine Salvage and Catabolism.Metabolites · 2023Review
- Stem Cell-Based Organoid Models of Neurodevelopmental Disorders.Biological psychiatry · 2023Review
7 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
28 authors at 13 institutions in 5 countries.
Funding
Abstract
Purine biosynthesis and metabolism, conserved in all living organisms, is essential for cellular energy homeostasis and nucleic acid synthesis. The de novo synthesis of purine precursors is under tight negative feedback regulation mediated by adenosine and guanine nucleotides. We describe a distinct early-onset neurodegenerative condition resulting from mutations in the adenosine monophosphate deaminase 2 gene (AMPD2). Patients have characteristic brain imaging features of pontocerebellar hypoplasia (PCH) due to loss of brainstem and cerebellar parenchyma. We found that AMPD2 plays an evolutionary conserved role in the maintenance of cellular guanine nucleotide pools by regulating the feedback inhibition of adenosine derivatives on de novo purine synthesis. AMPD2 deficiency results in defective GTP-dependent initiation of protein translation, which can be rescued by administration of purine precursors. These data suggest AMPD2-related PCH as a potentially treatable early-onset neurodegenerative disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.