Brunhilde Wirth

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.

The paper uses a zebrafish model to test the pathogenicity of SMN1 variants in SMA patients, showing that two variants were non-pathogenic and avoiding costly treatments.

This study uses an isogenic human iPSC model to show altered neural progenitor and motor neuron markers in SMA, suggesting developmental defects may contribute to neuronal death.

This study shows TGS1 is essential for snRNA 3' end processing and its loss causes neurodegeneration, which can be mitigated by human TGS1 expression in model organisms.