Affinage

AMPD1

AMP deaminase 1 · UniProt P23109

Length
747 aa
Mass
86.5 kDa
Annotated
2026-06-09
62 papers in source corpus 18 papers cited in narrative 18 extracted findings
Cross-family judge faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

AMPD1 encodes the skeletal-muscle isoform of AMP deaminase, which catalyzes the deamination of AMP to IMP and ammonia and thereby governs adenine nucleotide flux during muscle energy stress (PMID:27775065, PMID:11408438). Its catalytic site and a regulatory ATP-binding site reside in the conserved carboxy terminus, while the amino terminus modulates catalytic activity and myosin binding (PMID:7802626). Muscle-restricted expression is driven by two cis-elements near the transcription start site — an MEF2-like tissue-specific enhancer and a stage-specific promoter element active in differentiated myotube nuclei (PMID:8355716) — and the gene's exon 2 is subject to a distinctive alternative splicing mechanism controlled by exon recognition (suboptimal splice sites and small exon size) and by nucleocytoplasmic partitioning of an RNA intermediate (PMID:2398891, PMID:1922051, PMID:10767559). Loss of AMPD1 activity, through the common C34T (Glu12Stop) nonsense allele or other catalytic mutations, abolishes net ATP catabolism and IMP accumulation during exercise and instead elevates intracellular AMP and adenosine in skeletal muscle and heart (PMID:11408438, PMID:14499869, PMID:11102975, PMID:12117480). The resulting rise in the AMP:ATP ratio potentiates AMPK Thr172 phosphorylation and downstream ACC, Akt, and mTORC1/p70 S6 kinase signaling, improving insulin sensitivity and glucose tolerance (PMID:25459662, PMID:25511531, PMID:25887856), while increased local adenosine production enhances ischemia-induced vasodilation and confers cardioprotection (PMID:17376785, PMID:18224333). Catalytically inactivating mutations cause myoadenylate deaminase deficiency (PMID:12117480, PMID:11102975).

Mechanistic history

Synthesis pass · year-by-year structured walk · 17 steps
  1. 1990 High

    Established that AMPD1 transcripts are diversified by a non-canonical splicing route, defining how isoform diversity arises and revealing a species difference between rat and human exon 2 handling.

    Evidence Transfection and minigene analysis with RNA intermediate characterization in rat and human sequences

    PMID:2398891

    Open questions at the time
    • Did not identify trans-acting splicing factors
    • Functional consequence of exon 2 inclusion/exclusion on enzyme activity not resolved here
  2. 1991 High

    Resolved the two-step control of alternative transcript ratio — exon 2 recognition plus nucleocytoplasmic partitioning of an RNA intermediate — explaining how subcellular RNA localization gates the mature mRNA pool.

    Evidence Minigene mutagenesis with nuclear/cytoplasmic RNA fractionation

    PMID:1922051

    Open questions at the time
    • Machinery driving nuclear retention vs cytoplasmic escape unidentified
    • Physiological tissue context of partitioning not addressed
  3. 1993 High

    Defined the cis-regulatory basis of muscle-specific transcription, identifying an MEF2-like enhancer and a differentiation-stage promoter element with their bound nuclear factors.

    Evidence Promoter deletion/mutation transfection and EMSA

    PMID:8355716

    Open questions at the time
    • Binding proteins not molecularly identified
    • Interplay with splicing regulation not examined
  4. 1994 Medium

    Mapped catalytic and regulatory domains, placing the active and ATP-binding sites in the carboxy terminus and assigning the amino terminus a role in activity and myosin binding.

    Evidence Site-directed mutagenesis and deletion mutant enzymatic assays

    PMID:7802626

    Open questions at the time
    • ATP-binding site inferred from activity, not structurally validated
    • Myosin-binding interface not delineated at residue level
  5. 2000 Medium

    Showed exon 2 is intrinsically defective through three combined features and is only recognized with help from the adjacent intron, clarifying the molecular logic of exon masking.

    Evidence Systematic minigene splice-site and exon mutagenesis

    PMID:10767559

    Open questions at the time
    • Single lab
    • Trans-acting regulators of masking not identified
  6. 2000 Medium

    Identified disease-causing missense mutations (R388W, R425H) that abolish enzyme activity, linking specific residues to catalytic competence and to muscle metabolic dysfunction.

    Evidence Prokaryotic expression of mutants with activity assay

    PMID:11102975

    Open questions at the time
    • Single patient and single lab
    • In vivo consequences not directly measured
  7. 2001 High

    Demonstrated in human muscle that loss of AMPD1 activity abolishes exercise IMP/ammonia production and instead causes a ~25-fold adenosine rise, defining the in vivo metabolic phenotype of deficiency.

    Evidence Muscle biopsy enzyme/nucleotide/adenosine measurement and plasma ammonia during Wingate exercise across three genotypes

    PMID:11408438

    Open questions at the time
    • Downstream signaling consequences not assessed here
    • Vascular/clinical outcomes not measured
  8. 2002 Medium

    Validated a second dysfunctional allele (G468T/Q156H) producing labile enzyme and absent muscle polypeptide, expanding the mutational spectrum of myoadenylate deaminase deficiency.

    Evidence Baculoviral expression with activity assay plus patient muscle Western blot

    PMID:12117480

    Open questions at the time
    • Single lab
    • Mechanism of protein instability not defined
  9. 2003 High

    Extended the deficiency phenotype to the heart, showing C34T halves cardiac AMP-deaminase activity and that local cardiac adenosine effects predominate over systemic changes.

    Evidence Cardiac tissue enzyme assay with SSCP genotyping and LC/MS blood adenosine

    PMID:14499869

    Open questions at the time
    • Causal link to heart-failure outcome not established
    • Tissue adenosine not directly measured
  10. 2007 Medium

    Provided in vivo human evidence that the C34T variant augments reactive hyperemia and reduces ischemia-reperfusion injury, connecting reduced AMPD1 activity to vascular and cytoprotective benefit.

    Evidence Forearm plethysmography and 99mTc-annexin A5 scintigraphy in genotype-stratified subjects

    PMID:17376785

    Open questions at the time
    • Single lab
    • Intracellular adenosine increase inferred not directly measured in this readout
  11. 2008 Medium

    Confirmed augmented and faster-resolving exercise hyperemia in AMPD1-deficient individuals, reinforcing the adenosine-mediated vasodilatory consequence of deficiency.

    Evidence Femoral artery ultrasonography before/after Wingate cycling in genotype-stratified subjects

    PMID:18224333

    Open questions at the time
    • Small sample, single lab
    • Direct adenosine quantification not performed
  12. 2014 High

    Linked AMPD1 loss to energy-sensing signaling, showing deletion or inhibition potentiates exercise-induced AMP, AMP:ATP ratio, and AMPK/ACC phosphorylation in a muscle-type-dependent manner.

    Evidence Ampd1 knockout mouse muscle plus pharmacological inhibition with nucleotide and phospho-immunoblot readouts during electrical stimulation

    PMID:25459662

    Open questions at the time
    • Moderate effect implies additional regulators of AMPK beyond nucleotide levels
    • Mechanism of soleus vs EDL difference unexplained
  13. 2014 Medium

    Demonstrated metabolic benefit of AMPD1 deficiency, with improved glucose tolerance and insulin clearance and elevated muscle phospho-AMPK on high-fat diet.

    Evidence AMPD1-deficient mice with glucose/insulin tolerance tests and phospho-AMPK immunoblot

    PMID:25511531

    Open questions at the time
    • Single lab
    • Tissue-specific contribution to whole-body phenotype not dissected
  14. 2015 Medium

    Defined the downstream signaling axis, showing AMPD1 deficiency activates AMPK/Akt/mTORC1/p70 S6K and increases Raptor-bound mTOR selectively in skeletal muscle.

    Evidence AMPD1-deficient mice with mTOR Co-IP for Raptor and phosphorylation immunoblots

    PMID:25887856

    Open questions at the time
    • Co-IP without reciprocal validation
    • Direct molecular coupling of AMPK to mTORC1 in this context not reconstituted
  15. 2016 High

    Provided definitive in vivo confirmation of catalytic function and corrected a misattributed lethal phenotype, showing elevated AMP and near-absent IMP in muscle while neonatal lethality arose from disruption of neighboring Man1a2/Nras.

    Evidence Conditional knockout mouse alleles with RNA-seq of neighboring genes and AMP/IMP metabolite measurement

    PMID:27775065

    Open questions at the time
    • Adult-survivable allele's metabolic phenotype only partially characterized
    • Residual AMP deaminase from other isoforms not quantified
  16. 2022 High

    Showed acute AMPD1 knockdown impairs contractile kinetics and intensity-dependently exaggerates AMP and AMPK signaling in fast-twitch EDL, tying AMPD1 to muscle performance and energetic sensing.

    Evidence Contralateral in vivo miRNA electroporation of EDL/SOL with contractile and phospho-immunoblot readouts and direct AMP measurement

    PMID:36107988

    Open questions at the time
    • Fiber-type basis of EDL-specific effect unresolved
    • Chronic vs acute knockdown effects may differ
  17. 2023 Medium

    Identified AMPD1 as a pharmacological target, with berberine suppressing AMPD1 (and inducing ADSL) to raise AMP/ATP ratio, activate AMPK, and relieve insulin resistance.

    Evidence Rat and L6 cell models with expression, AMP/ATP ratio, and AMPK phosphorylation readouts

    PMID:36931587

    Open questions at the time
    • Single lab
    • Direct drug-AMPD1 binding not demonstrated; effect may be indirect transcriptional

Open questions

Synthesis pass · forward-looking unresolved questions
  • The trans-acting factors controlling exon 2 splicing and RNA partitioning, the proteins binding the muscle-specific cis-elements, and the precise molecular coupling of AMP accumulation to mTORC1 remain unresolved.
  • Splicing regulators unidentified
  • Transcription factors at cis-elements not molecularly defined
  • AMPK-to-mTORC1 coupling not reconstituted

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140098 catalytic activity, acting on RNA 4 GO:0016787 hydrolase activity 2 GO:0008092 cytoskeletal protein binding 1
Localization
GO:0005829 cytosol 2
Pathway
R-HSA-1430728 Metabolism 3 R-HSA-8953854 Metabolism of RNA 3 R-HSA-162582 Signal Transduction 2
Partners
MYH (MYOSIN)

Evidence

Reading pass · 18 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1990 The AMPD1 gene product in rat is alternatively spliced via a novel pathway: the 12-base exon 2 is excluded or included in a tissue-specific and stage-specific pattern. Alternative splicing proceeds through an RNA intermediate that generates an alternative 5' splice donor site at the exon 1-exon 2 boundary not present in the primary transcript. In human AMPD1, the analogous intermediate was a poor splicing substrate due to differences in exon 2 sequences, so human AMPD1 was not alternatively spliced. Transfection and minigene analysis, RNA intermediate characterization Molecular and cellular biology High 2398891
1991 Two steps in RNA processing control the ratio of AMPD1 alternative transcripts: (1) exon 2 recognition in the primary transcript (influenced by its small size and suboptimal splice sites, and by a slow-removal intron 2 that plays a permissive role); and (2) nucleocytoplasmic partitioning of an RNA intermediate (exon 1-exon 2-intron 2-exon 3) — nuclear retention of this intermediate is associated with accumulation of the exon-2-containing mature mRNA, while cytoplasmic escape leads to the alternative transcript. Transfection with native, mutant, and chimeric minigene constructs; subcellular fractionation of RNA intermediates Molecular and cellular biology High 1922051
1993 Muscle-specific expression of AMPD1 is controlled by two distinct cis-acting elements within 100 nucleotides of the transcriptional start site. One element (-100 to -79) acts as a tissue-specific enhancer resembling an MEF2 binding motif and interacts with proteins predominantly in myoblast/myotube nuclei; an A/T core within it is essential for enhancer activity. The second element (-60 to -40) acts as a stage-specific promoter element essential for muscle-specific expression, interacting with a protein restricted to differentiated myotube nuclei. Promoter deletion and mutation analysis by transfection, electrophoretic mobility shift assay (EMSA) for protein-DNA interaction Molecular and cellular biology High 8355716
1994 Mutational analysis of AMPD1 demonstrated that the catalytic site and a regulatory site (likely an ATP binding site) are located in the highly conserved carboxy terminus. The amino terminus has a profound influence on catalytic activity and on binding of AMPD1 to myosin. Alternative splicing in the amino-terminal region generates isoforms exhibiting differential sensitivity to effector molecules such as ATP. Site-directed mutagenesis, deletion mutant expression and enzymatic assay Biochemical and biophysical research communications Medium 7802626
2000 Positive and negative elements mediate alternative splicing of AMPD1 exon 2. Exon 2 is intrinsically defective due to three combined defects: a suboptimal 3' splice acceptor site, a suboptimal 5' splice donor site, and its small size. The defective exon can only be recognized in the presence of the adjacent downstream intron. Improving any single defect relieves exon masking. Minigene transfection with systematic mutation of splice sites and exon sequences Gene Medium 10767559
2000 Two novel missense mutations (R388W in exon 9 and R425H in exon 10) of AMPD1 result in undetectable AMPD enzyme activity when expressed prokaryotically, establishing these residues as functionally critical for catalytic activity and identifying AMPD1 as essential for normal skeletal muscle metabolism and development. Prokaryotic expression of mutant constructs with enzyme activity assay Human mutation Medium 11102975
2001 In subjects homozygous for the AMPD1 mutant allele (MM), AMP deaminase activity was nearly absent in skeletal muscle during sprint exercise, resulting in no significant net ATP catabolism, no IMP accumulation, no postexercise plasma ammonia increase, and a dramatic ~25-fold increase in skeletal muscle adenosine compared to normal homozygotes (NN). Heterozygotes showed intermediate enzyme activity and IMP accumulation. Muscle biopsy with direct enzyme activity assay; nucleotide and adenosine measurement; plasma ammonia measurement during Wingate exercise test Journal of applied physiology High 11408438
2002 A second AMPD1 mutant allele, G468T (causing a Q156H substitution), was identified in compound heterozygous patients with myoadenylate deaminase deficiency. Baculoviral expression of the G468T mutant produced an enzyme with labile catalytic activity, and Western blot of patient muscle detected no immunoreactive AMPD1 polypeptide, demonstrating this allele is dysfunctional. Baculoviral expression with enzyme activity assay; Western blot of patient muscle biopsy Neuromuscular disorders Medium 12117480
2003 The C34T (Glu12Stop) nonsense mutation in AMPD1 reduces cardiac AMP-deaminase activity to approximately half of wild-type in heterozygous heart failure patients, without changing the activity of other adenosine-regulating enzymes. In homozygous mutant subjects, exercise-induced increase in blood adenosine was significant, whereas heterozygotes and wild-type subjects showed no significant change, indicating local cardiac metabolic effects predominate over systemic adenosine changes. Direct enzyme activity assay in cardiac tissue; SSCP genotyping; LC/MS measurement of blood adenosine Cardiovascular research High 14499869
2005 A novel intronic deletion (IVS2-(4-7)delCTTT) in AMPD1 disrupts splicing, generating multiple alternatively spliced AMPD1 transcripts from patient skeletal muscle, including deletions in exon 3, complete deletion of exon 3 or exons 3-4, and activation of a cryptic splice site with an insertion at the 5' end of exon 4, demonstrating that intronic sequences flanking exon 3 are essential for normal AMPD1 splicing. AMPD1 mRNA characterization from skeletal muscle biopsy; allele-specific PCR; direct sequencing Molecular genetics and metabolism Medium 16040263
2007 In subjects heterozygous for the 34C>T AMPD1 variant, forearm reactive hyperemia following ischemia was significantly augmented and ischemia-reperfusion injury (measured by 99mTc-annexin A5 scintigraphy detecting externalized phosphatidylserine) was significantly reduced compared to wild-type controls, consistent with increased ischemia-induced intracellular adenosine formation due to reduced AMPD1 activity. Venous occlusion plethysmography for forearm blood flow; 99mTc-annexin A5 scintigraphy for tissue injury quantification; in vivo human experiment with genotype-stratified cohorts European heart journal Medium 17376785
2008 AMPD1 genotype-deficient individuals (MM or compound heterozygotes) exhibited a greater and faster post-exercise blood flow response and a more than twice-faster fall in blood flow during recovery (T1/2: 7.8 min vs. 16.1 min in normal homozygotes) following sprint exercise, consistent with AMPD1 deficiency increasing adenosine formation and augmenting exercise-induced hyperemia. Common femoral artery ultrasonography before and after 30-s Wingate cycling test in genotype-stratified human subjects European journal of applied physiology Medium 18224333
2014 Pharmacological inhibition of AMPD (in isolated rat muscle) or genetic deletion of Ampd1 (in mouse skeletal muscle) potentiated exercise-induced rises in AMP, AMP:ATP ratio, and AMPK Thr172 and ACC Ser218 phosphorylation during electrical stimulation. Enhanced AMPK activation was moderate and muscle-type dependent (observed in soleus but not EDL from Ampd1 knockout mice), suggesting control by factors beyond adenine nucleotide changes alone. Pharmacological inhibition with direct nucleotide measurement; Ampd1 knockout mouse muscle (incubated EDL and soleus); immunoblot for AMPK/ACC phosphorylation; electrical stimulation Chemistry & biology High 25459662
2014 Genetic disruption of AMPD1 in mice fed a high-fat diet leads to less severe insulin resistance, improved glucose tolerance, enhanced insulin clearance, and elevated phosphorylated AMPK in skeletal muscle compared to wild-type mice, demonstrating AMPD1 modulates insulin sensitivity through the AMP/AMPK axis in skeletal muscle. AMPD1-deficient mouse model; glucose tolerance test; insulin tolerance test; immunoblot for phospho-AMPK in skeletal muscle BMC endocrine disorders Medium 25511531
2015 AMPD1 deficiency in mice on high-fat diet activates the AMPK/Akt/mTORC1/p70 S6 kinase axis specifically in skeletal muscle (not liver or white adipose tissue), and increases Raptor-bound mTOR in skeletal muscle, mechanistically linking AMPD1 to insulin signaling via this pathway. AMPD1-deficient mouse model; immunoprecipitation of mTOR followed by immunoblot for Raptor; phosphorylation assays for AMPK, Akt, p70 S6K by immunoblot BMC endocrine disorders Medium 25887856
2016 A knockout-first cassette insertion in the Ampd1 locus caused neonatal lethality in mice by disrupting expression of neighboring genes Man1a2 and Nras, not from AMPD1 loss per se. Mice with the critical exon deleted (Ampd1tm1d) survived to adulthood. E18.5 Ampd1tm1a/tm1a mice showed elevated AMP and near-complete absence of IMP in skeletal muscle, directly confirming AMPD1's catalytic role in AMP-to-IMP conversion in vivo. Conditional knockout mouse model; RNA-seq for neighboring gene expression; metabolite measurement (AMP, IMP) in skeletal muscle by biochemical assay Scientific reports High 27775065
2022 AMPD1 knockdown (~35%) in mouse EDL (but not SOL) skeletal muscle impaired time-to-peak tension and half-relaxation time during maximal tetanic contractions. In EDL, AMPD1 knockdown exaggerated the AMP response to LOW and MOD duty-cycle contractions (+100% and +54%, respectively) and increased AMPK Thr172 phosphorylation (+25% and +34%) and downstream substrate phosphorylation, in an intensity-dependent manner. Electroporation of AMPD1-specific miRNA into contralateral EDL and SOL muscles in mice; isometric contractile function assay; immunoblot for AMPK/substrate phosphorylation; direct AMP measurement Journal of applied physiology High 36107988
2023 Berberine suppressed AMPD1 expression and promoted adenylosuccinate synthetase (ADSL) expression in fructose-treated rats and L6 cells, increasing intracellular AMP and AMP/ATP ratio to activate AMPK, thereby alleviating insulin resistance. This identifies AMPD1 as a mechanistic target of berberine in the AMP-AMPK pathway. In vivo rat model and L6 cell culture; gene expression by qPCR/Western blot; AMP/ATP ratio measurement; AMPK activation by phosphorylation assay Food and chemical toxicology Medium 36931587

Source papers

Stage 0 corpus · 62 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1999 Common variant in AMPD1 gene predicts improved clinical outcome in patients with heart failure. Circulation 114 10086964
2003 Associations between cardiorespiratory responses to exercise and the C34T AMPD1 gene polymorphism in the HERITAGE Family Study. Physiological genomics 73 12783984
2000 A common variant of the AMPD1 gene predicts improved cardiovascular survival in patients with coronary artery disease. Journal of the American College of Cardiology 67 11028479
2001 Regulation of skeletal muscle ATP catabolism by AMPD1 genotype during sprint exercise in asymptomatic subjects. Journal of applied physiology (Bethesda, Md. : 1985) 63 11408438
2005 Frequency of the C34T mutation of the AMPD1 gene in world-class endurance athletes: does this mutation impair performance? Journal of applied physiology (Bethesda, Md. : 1985) 61 15677729
1990 A novel pathway for alternative splicing: identification of an RNA intermediate that generates an alternative 5' splice donor site not present in the primary transcript of AMPD1. Molecular and cellular biology 47 2398891
2003 Decreased cardiac activity of AMP deaminase in subjects with the AMPD1 mutation--a potential mechanism of protection in heart failure. Cardiovascular research 36 14499869
2014 Effects of pharmacological AMP deaminase inhibition and Ampd1 deletion on nucleotide levels and AMPK activation in contracting skeletal muscle. Chemistry & biology 35 25459662
2014 AMPD1 rs17602729 is associated with physical performance of sprint and power in elite Lithuanian athletes. BMC genetics 33 24885427
2002 A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population. Neuromuscular disorders : NMD 28 12117480
2011 Distribution of the AMPD1 C34T polymorphism in Polish power-oriented athletes. Journal of sports sciences 27 22017426
2008 Molecular characterization and expression patterns of AMP deaminase1 (AMPD1) in porcine skeletal muscle. Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology 26 18638563
2013 Effect of AMPD1 gene polymorphism on muscle activity in humans. Bulletin of experimental biology and medicine 25 23486588
1993 Functionally distinct elements are required for expression of the AMPD1 gene in myocytes. Molecular and cellular biology 24 8355716
2016 Insertion of a knockout-first cassette in Ampd1 gene leads to neonatal death by disruption of neighboring genes expression. Scientific reports 22 27775065
2015 Genetic polymorphisms of the AMPD1 gene and their correlations with IMP contents in Fast Partridge and Lingshan chickens. Gene 21 26275943
2011 Is the C34T polymorphism of the AMPD1 gene associated with athlete performance in rowing? International journal of sports medicine 21 22105616
2007 Augmented hyperaemia and reduced tissue injury in response to ischaemia in subjects with the 34C > T variant of the AMPD1 gene. European heart journal 21 17376785
2009 Association of C34T AMPD1 gene polymorphism with features of metabolic syndrome in patients with coronary artery disease or heart failure. Scandinavian journal of clinical and laboratory investigation 20 18855224
1994 Identification of functional domains in AMPD1 by mutational analysis. Biochemical and biophysical research communications 20 7802626
2014 AMPD1: a novel therapeutic target for reversing insulin resistance. BMC endocrine disorders 19 25511531
2010 AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases. Journal of applied genetics 19 21108053
2008 The effect of AMPD1 genotype on blood flow response to sprint exercise. European journal of applied physiology 19 18224333
2004 A common variant of the AMPD1 gene predicts improved survival in patients with ischemic left ventricular dysfunction. Journal of cardiac failure 19 15309698
2018 Polygenic Study of Endurance-Associated Genetic Markers NOS3 (Glu298Asp), BDKRB2 (-9/+9), UCP2 (Ala55Val), AMPD1 (Gln45Ter) and ACE (I/D) in Polish Male Half Marathoners. Journal of human kinetics 17 30429902
2006 Evaluation of AMPD1 C34T genotype as a predictor of mortality in heart failure and post-myocardial infarction patients. American heart journal 16 16875916
2018 Can Genetics Predict Sports Injury? The Association of the Genes GDF5, AMPD1, COL5A1 and IGF2 on Soccer Player Injury Occurrence. Sports (Basel, Switzerland) 15 29910325
2010 A novel 18-bp deletion mutation of the AMPD1 gene affects carcass traits in Qinchuan cattle. Molecular biology reports 15 20232158
2005 The role of a common adenosine monophosphate deaminase (AMPD)-1 polymorphism in outcomes of ischemic and nonischemic heart failure. Journal of cardiac failure 15 16360962
1991 Exon recognition and nucleocytoplasmic partitioning determine AMPD1 alternative transcript production. Molecular and cellular biology 15 1922051
2023 High fructose-induced skeletal muscle insulin resistance could be alleviated by berberine via AMPD1 and ADSL. Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association 14 36931587
2022 Skeletal muscle contraction kinetics and AMPK responses are modulated by the adenine nucleotide degrading enzyme AMPD1. Journal of applied physiology (Bethesda, Md. : 1985) 14 36107988
2005 Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene. Molecular genetics and metabolism 13 16040263
2000 Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient. Neuromuscular disorders : NMD 12 10996775
2007 AMPD1 genotypes and exercise capacity in McArdle patients. International journal of sports medicine 11 17687759
2005 Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene. Clinical neuropathology 11 15803807
2005 AMPD1 (C34T) polymorphism and clinical outcomes in patients undergoing myocardial revascularization. International journal of cardiology 11 15882662
2000 First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient. Human mutation 11 11102975
2009 C34T mutation of the AMPD1 gene in an elite white runner. BMJ case reports 10 21686757
2015 AMPD1 regulates mTORC1-p70 S6 kinase axis in the control of insulin sensitivity in skeletal muscle. BMC endocrine disorders 9 25887856
2006 C34T mutation of the AMPD1 gene in an elite white runner. British journal of sports medicine 9 16505069
2006 AMPD1 gene polymorphism and the vasodilatory response to ischemia. Life sciences 9 16707139
2023 The Role of AGT, AMPD1, HIF1α, IL-6 Gene Polymorphisms in the Athletes' Power Status: A Meta-Analysis. Journal of human kinetics 8 38053960
2020 A functional mutation in the AMPD1 promoter region affects promoter activity and breast meat freshness in chicken. Animal genetics 8 33226134
2018 Expression of serum AMPD1 in thyroid carcinoma and its clinical significance. Experimental and therapeutic medicine 7 29545855
2006 Association between AMPD1 gene polymorphism and coagulation factors in patients with coronary heart disease. Pathophysiology of haemostasis and thrombosis 7 17565237
2025 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.) 6 40332645
2020 AMPD1 C34T Polymorphism (rs17602729) Is Not Associated with Post-Exercise Changes of Body Weight, Body Composition, and Biochemical Parameters in Caucasian Females. Genes 6 32429460
2017 Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency. PloS one 6 29095874
2014 AMPD1 functional variants associated with autism in Han Chinese population. European archives of psychiatry and clinical neuroscience 6 25155876
2004 A polymorphism of the gene encoding AMPD1: clinical impact and proposed mechanisms in congestive heart failure. Congestive heart failure (Greenwich, Conn.) 6 15591841
1997 A Competitive Allele-specific Oligomers Polymerase Chain Reaction Assay for the cis Double Mutation in AMPD1 That Is the Major Cause of Myo-adenylate Deaminase Deficiency. Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology 6 10462599
2015 Effects of the 34C>T Variant of the AMPD1 Gene on Immune Function, Multi-Organ Dysfunction, and Mortality in Sepsis Patients. Shock (Augusta, Ga.) 5 26529652
2016 Association between the C34T polymorphism of the AMPD1 gene and essential hypertension in Malaysian patients. Genetics and molecular research : GMR 4 27323204
2015 DNA sequence polymorphism within the bovine adenosine monophosphate deaminase 1 (AMPD1) is associated with production traits in Chinese cattle. Genetics and molecular research : GMR 4 25730042
2006 Does the C34T mutation in AMPD1 alter exercise capacity in the elderly? International journal of sports medicine 4 16767606
2005 AMPD1 C34T mutation selectively affects AMP-deaminase activity in the human heart. Nucleosides, nucleotides & nucleic acids 4 16021918
2000 Positive and negative elements mediate control of alternative splicing in the AMPD1 gene. Gene 4 10767559
2025 Changes in Vertical Jump Parameters After Training Unit in Relation to ACE, ACTN3, PPARA, HIF1A, and AMPD1 Gene Polymorphisms in Volleyball and Basketball Players. Genes 3 40149402
2010 Cardiac muscle AMP-deaminase from a 10-year-old male heterozygous for the AMPD1 C34T mutation. Nucleosides, nucleotides & nucleic acids 3 20544536
2025 AMPD1 and MTHFR genes are not associated with calcium levels in rheumatoid arthritis patients with methotrexate therapy in Indonesia. Scientific reports 1 39794365
2008 [Molecular cloning and mutation site analysis of AMPD1 gene in swine]. Yi chuan = Hereditas 1 18244922

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