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Mitochondrial Medicine & Neurogenetics (MMN)

Mitochondrial tRNA processing

Point mutations affecting tRNA genes are the most frequent cause of mtDNA disorders. So far, their molecular mechanisms are poorly understood and their association with clinical disease remains largely unexplained. The aim of this project is to address the role of mitochondrial tRNA processing enzymes in the control of RNA processing pathway. This knowledge is essential for understanding the tissue-specific effects of pathogenic tRNA mutations.