Davide Martino

Altered Steroidogenesis in Response to Impaired Mitochondrial Protein Homeostasis

This study shows that mitochondrial proteostasis stress causes a biphasic cortisol response, with mild stress increasing and severe stress decreasing cortisol production, linking mitochondrial function to steroidogenesis in Parkinson's disease models.

Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing loss

The paper reports a novel MFN2 variant associated with ataxia, optic atrophy, and sensorineural hearing loss, and shows its functional impact in patient fibroblasts.

Genome-wide Association Study identifies two novel loci for Gilles de la Tourette Syndrome

This study identifies two novel genetic loci associated with Tourette Syndrome through a genome-wide meta-analysis and integrates functional data to implicate specific genes.