Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy.

doi:10.1093/eurheartj/ehq507

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

Community

Back to search

Article

Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy.

European heart journal - 1 May 2011

Sibbing Dirk, Pfeufer Arne, Perisic Tamara, Mannes Alexander M, Fritz-Wolf Karin, Unwin Sarah, Sinner Moritz F, Gieger Christian, Gloeckner Christian Johannes, Wichmann Heinz-Erich, Kremmer Elisabeth, Schäfer Zasie, Walch Axel, Hinterseer Martin, Näbauer Michael, Kääb Stefan, Kastrati Adnan, Schömig Albert, Meitinger Thomas, Bornkamm Georg W, Conrad Marcus, von Beckerath Nicolas

Abstract excerpt

AIMS: Cardiac energy requirement is met to a large extent by oxidative phosphorylation in mitochondria that are highly abundant in cardiac myocytes. Human mitochondrial thioredoxin reductase (TXNRD2) is a selenocysteine-containing enzyme essential for mitochondrial oxygen radical scavenging. Cardiac-specific deletion of Txnrd2 in mice results in dilated cardiomyopathy (DCM). The aim of this study was to...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathy, Dilated

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibroblasts

Share to Homeostasis

Share to Immunoblotting

Share to Microscopy, Electron

Share to Mitochondria

Share to Myocytes, Cardiac

Share to Reactive Oxygen Species

Source

Open in PubMed

Identifiers

PMID: 21247928
DOI: 10.1093/eurheartj/ehq507

Genes

TXNRD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy.PMID 21247928Read ↗

Heart-Specific Knockout of the Mitochondrial Thioredoxin Reductase (Txnrd2) Induces Metabolic and Contractile Dysfunction in the Aging Myocardium.Semantic proximity Read ↗

Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing.Semantic proximity Read ↗

Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathySemantic proximity Read ↗

TNNT2 gene polymorphisms are associated with susceptibility to idiopathic dilated cardiomyopathy in the Han Chinese population.Semantic proximity Read ↗

Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy.Semantic proximity Read ↗

Second Hits in Dilated Cardiomyopathy.Semantic proximity Read ↗

Natural History of Dilated Cardiomyopathy Due to c.77T>C (p.Val26Ala) in Emerin ProteinSemantic proximity Read ↗

Truncations of titin causing dilated cardiomyopathy.Semantic proximity Read ↗

Cardiac troponin T (TNNT2) mutations in chinese dilated cardiomyopathy patients.Semantic proximity Read ↗

Clinical Considerations for a Family with Dilated Cardiomyopathy, Sudden Cardiac Death, and a Novel TTN Frameshift Mutation.Semantic proximity Read ↗

Polymorphic variants at NDUFC2, encoding a mitochondrial complex I subunit, associate with cardiac hypertrophy in human hypertension.Semantic proximity Read ↗

Truncated titin proteins in dilated cardiomyopathy.Semantic proximity Read ↗

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