Sofia Vrettou

This study identifies endogenous SMN protein heterogeneity as a determinant of motor neuron vulnerability and resilience, showing that SMN levels dynamically influence neuronal fate in disease models.

This study shows that OMAV increases NRF2 target proteins in SMA type I fibroblasts, suggesting potential cytoprotective effects.

This study uses proteomics to show that SMN deficiency causes tissue-specific proteome changes in SMA, with partial rescue by SMN restoration but incomplete recovery of metabolic pathways.

This study identifies mitochondrial-iron-redox dysregulation in SMA liver, showing early ferroptotic vulnerability and persistent heme pathway activation despite SMN restoration.