Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

AMPD1 C34T mutation selectively affects AMP-deaminase activity in the human heart.

Nucleosides, nucleotides & nucleic acids - 1 Jan 2005

Kalsi K K, Yuen A H Y, Johnson P H, Birks E J, Yacoub M H, Smolenski R T

Abstract excerpt

Possession of the nonsense mutation in AMPD 1 C34T gene has been linked to improved survival in patients with heart failure, possibly by promoting the formation of adenosine. This mutation is known to decrease the activity of AMP-deaminase in skeletal muscle. We have found that the AMPD1 mutation decreases the activity of AMP-deaminase in the heart without changing the activity of any other enzymes of adenine...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adenine
Share to Adenosine
Share to Adenosine Monophosphate

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to AMP Deaminase

Share to Biopsy

Share to Chromatography, High Pressure Liquid

Share to Codon, Nonsense

Share to Myocardium

Source

Identifiers

PMID: 16021918
DOI: 10.1081/NCN-59721

Genes

AMPD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

AMPD1 C34T mutation selectively affects AMP-deaminase activity in the human heart.PMID 16021918Read ↗

Decreased cardiac activity of AMP deaminase in subjects with the AMPD1 mutation--a potential mechanism of protection in heart failure.Semantic proximity Read ↗

Association of improved cardiac function in donors with C34T mutation of the AMP deaminase 1 gene.Semantic proximity Read ↗

AMP deaminase 1 gene polymorphism and heart disease-a genetic association that highlights new treatment.Semantic proximity Read ↗

C34T AMP deaminase 1 gene mutation protects cardiac function in donors.Semantic proximity Read ↗

Cardiac muscle AMP-deaminase from a 10-year-old male heterozygous for the AMPD1 C34T mutation.Semantic proximity Read ↗

Adenosine and cardioprotection: what can we learn from nature's genetic polymorphism?Semantic proximity Read ↗

A common variant of the AMPD1 gene predicts improved cardiovascular survival in patients with coronary artery disease.Semantic proximity Read ↗

Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.Semantic proximity Read ↗

[Can mutation of the AMPD1 gene encoding human deaminase muscle muscle isozyme AMP be a prognostic marker of primary dilated cardiomyopathy?].Semantic proximity Read ↗

AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases.Semantic proximity Read ↗

Effects of AMPD1 gene C34T polymorphism on cardiac index, blood pressure and prognosis in patients with cardiovascular diseases: a meta-analysis.Semantic proximity Read ↗

A common variant of the AMPD1 gene predicts improved survival in patients with ischemic left ventricular dysfunction.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.