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Title:

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

Document type:
Journal Article; Research Support, Non-U.S. Gov't; Article
Author(s):
Sibbing, D; Pfeufer, A; Perisic, T; Mannes, AM; Fritz-Wolf, K; Unwin, S; Sinner, MF; Gieger, C; Gloeckner, CJ; Wichmann, HE; Kremmer, E; Schäfer, Z; Walch, A; Hinterseer, M; Näbauer, M; Kääb, S; Kastrati, A; Schömig, A; Meitinger, T; Bornkamm, GW; Conrad, M; von Beckerath, N
Abstract:
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 investigate whether TXNRD2 mutations explain a fraction of monogenic DCM cases.Sequencing and subse...     »
Journal title abbreviation:
Eur Heart J
Year:
2011
Journal volume:
32
Journal issue:
9
Pages contribution:
1121-33
Language:
eng
Fulltext / DOI:
doi:10.1093/eurheartj/ehq507
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/21247928
Print-ISSN:
0195-668X
TUM Institution:
I. Medizinische Klinik und Poliklinik (Kardiologie); Institut für Humangenetik
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