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Inherited inborn errors of metabolism can cause premature severe dilated cardiomyopathy in infants and cause sudden unexpected death (SUDI). PPA2 gene encoding the mitochondrial pyrophosphatase is involved in many reactions for energy metabolism of the cell. Biallelic mutations induce a mitochondrial disease with a particularly serious cardiac phenotype.In an international consortium, we identified...
The longstanding question of the presence of mitochondria-bound polysomes has been recently revisited using new approaches. Genome-wide analyses provided evidence that many genes are actually translated on mitochondria-bound polysomes and GFP-labeling techniques have shown that, in vivo, the 3′UTR sequence of these genes contains signals which can target hybrid RNA molecules to the proximity of mitochondria...
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