ArticleProceedings of the National Academy of Sciences of the United States of America1992
Molecular basis of AMP deaminase deficiency in skeletal muscle.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
60 citing papers in PubMed, 2 syntheses or guidelines pooled it, 211 citations in OpenAlex.
- Association Between the c.34C > T (rs17602729) Polymorphism of the AMPD1 Gene and the Status of Endurance and Power Athletes: A Systematic Review and Meta-Analysis.Sports medicine (Auckland, N.Z.) · 2025Pooled it
- Genetics of long-distance runners and road cyclists-A systematic review with meta-analysis.Scandinavian journal of medicine & science in sports · 2022Pooled it
- Circulating adenosine increases during human experimental endotoxemia but blockade of its receptor does not influence the immune response and subsequent organ injury.Critical care (London, England) · 2011Trial
- Does theGenes · 2026Article
- Association of Genetically Predicted Activity of AMP Deaminase 1 with Clinical and Biochemical Parameters in Diabetic Individuals with Coronary Artery Disease.International journal of molecular sciences · 2025Article
- Muscle AMP deaminase activity was lower in Neandertals than in modern humans.Nature communications · 2025Article
- Article
- Importance of selected genetic determinants on endurance performance and physical strength: a narrative review.Frontiers in physiology · 2025Review
- Overexpression and knockdown of cottoniScience · 2024Article
- Inborn Errors of Purine Salvage and Catabolism.Metabolites · 2023Review
- Two Rare Cases of Long Surviving Riboflavin Transporter Deficiency with Co-Existing Adenosine Monophosphate Deaminase (AMP) Deficiency.Brain sciences · 2022Article
- Skeletal muscle contraction kinetics and AMPK responses are modulated by the adenine nucleotide degrading enzyme AMPD1.Journal of applied physiology (Bethesda, Md. : 1985) · 2022Article
- Secondary myoadenylate deaminase deficiency is not a common feature of inflammatory myopathies: A descriptive study.Frontiers in medicine · 2022Article
- Performance of Plasma Adenosine as a Biomarker for Predicting Cardiovascular Risk.Clinical and translational science · 2021Article
- AMPD1 Is Associated With the Immune Response and Serves as a Prognostic Marker in HER2-Positive Breast Cancer.Frontiers in oncology · 2021Article
- Valine acts as a nutritional signal in brain to activate TORC1 and attenuate postprandial ammonia-N excretion in Chinese perch (Siniperca chuatsi).Fish physiology and biochemistry · 2020Article
- Adenosine monophosphate deaminase 3 null mutation causes reduction of naive T cells in mouse peripheral blood.Blood advances · 2020Article
- [Muscle weakness and CK elevation: is it myositis?]Zeitschrift fur Rheumatologie · 2020Article
- Article
- Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.Journal of cardiovascular development and disease · 2020Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 2 countries.
Funding
Abstract
AMP deaminase (AMPD; EC 3.5.4.6) is encoded by a multigene family in mammals. The AMPD1 gene is expressed at high levels in skeletal muscle, where this enzyme is thought to play an important role in energy metabolism. Deficiency of AMPD activity in skeletal muscle is associated with symptoms of a metabolic myopathy. Eleven unrelated individuals with AMPD deficiency were studied, and each was shown to be homozygous for a mutant allele characterized by a C----T transition at nucleotide 34 (codon 12 in exon 2) and at nucleotide 143 (codon 48 in exon 3). The C----T transition at codon 12 results in a nonsense mutation predicting a severely truncated AMPD peptide. Consistent with this prediction, no immunoreactive AMPD1 peptide is detectable in skeletal muscle of these patients. This mutant allele is found in 12% of Caucasians and 19% of African-Americans, whereas none of the 106 Japanese subjects surveyed has this mutant allele. We conclude from these studies that this mutant allele is present at a sufficiently high frequency to account for the 2% reported incidence of AMPD deficiency in muscle biopsies. The restricted distribution and high frequency of this doubly mutated allele suggest it arose in a remote ancestor of individuals of Western European descent.
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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.