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Dokumenttyp:
journal article 
Autor(en):
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 
Titel:
Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy. 
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...    »
 
Zeitschriftentitel:
Eur Heart J 
Jahr:
2011 
Band / Volume:
32 
Heft / Issue:
Seitenangaben Beitrag:
1121-33 
Sprache:
eng 
Print-ISSN:
0195-668X 
TUM Einrichtung:
I. Medizinische Klinik und Poliklinik; r Humangenetik