Article
Prdm16 mutation determines sex-specific cardiac metabolism and identifies two novel cardiac metabolic regulators.
Cardiovascular research - 17 Feb 2024
Kühnisch Jirko, Theisen Simon, Dartsch Josephine, Fritsche-Guenther Raphaela, Kirchner Marieluise, Obermayer Benedikt, Bauer Anna, Kahlert Anne-Karin, Rothe Michael, Beule Dieter, Heuser Arnd, Mertins Philipp, Kirwan Jennifer A, Berndt Nikolaus, MacRae Calum A, Hubner Norbert, Klaassen Sabine
Abstract excerpt
AIMS: Mutation of the PRDM16 gene causes human dilated and non-compaction cardiomyopathy. The PRDM16 protein is a transcriptional regulator that affects cardiac development via Tbx5 and Hand1, thus regulating myocardial structure. The biallelic inactivation of Prdm16 induces severe cardiac dysfunction with post-natal lethality and hypertrophy in mice. The early pathological events that occur upon Prdm16...
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