Erik Storkebaum

This study identifies excessive RAS/MAPK pathway activation as a cause of adult-onset motor axonal degeneration in Drosophila, showing that inhibiting the pathway can rescue neurodegenerative phenotypes.

The paper identifies tRNAGly sequestration as a unifying mechanism causing GARS1-associated peripheral neuropathy and suggests therapeutic strategies to elevate tRNAGly levels.

This study identifies FUS's role in muscle differentiation and structure through phase separation-mediated recruitment of ETV5 and MEF2, showing its dysfunction in FUS-ALS.

The paper shows that glycolic acid and D-lactate restore axonal trafficking and DNA damage response in FUS and SOD1-ALS patient-derived motoneurons.

This study shows that OGT mutations impair cognitive function in Drosophila by disrupting O-GlcNAcylation, and that blocking OGA can correct the deficit.

The paper identifies NUP50 gene variants and reduced expression as risk factors for ALS through transcriptome-wide association and functional studies.

This study shows that the Drosophila FUS ortholog cabeza regulates founder myoblast selection via Xrp1-dependent FGF signaling, affecting muscle development.