Sídney M. Gospe

The paper uses proteomics to compare mitochondrial diversity in somatodendritic and axonal compartments across neurons, finding axonal mitochondria are 'impoverished' with reduced mtDNA expression and impaired oxidative phosphorylation.

This study identifies de novo KDM2A variants as a cause of a syndromic neurodevelopmental disorder with specific clinical features and functional consequences.

The paper identifies novel biomarkers for pyridoxine-dependent epilepsy using metabolomics and infrared ion spectroscopy, showing their potential for newborn screening and clinical implications.