Abstract:The Leigh syndrome is a severe inborn neurodegenerative encephalopathy commonly associated with pyruvate metabolism defects. The transcription factor E4F1, a key regulator of the pyruvate dehydrogenase (PDH) complex (PDC), was previously found to be mutated in Leigh syndrome patients, but the molecular mechanisms leading to cell death in E4F1-deficient neurons remain unknown. Here, we show that E4F1 directly regulates Dlat and Elp3, two genes encoding key subunits of the PDC and of the Elongator complex, to co… Show more
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