Nicolás Gómez

This study investigates the role of stress granule formation in neurodegeneration, finding that reducing stress granules exacerbates disease phenotypes in models of ataxia, ALS, and FTD.

This study identifies TDP43 autoregulation as a source of shortened isoforms, showing they are regulated by NMD and post-translational degradation, and their dysregulation leads to neurodegeneration.

The paper shows that ribosomal quality control factors reduce toxic repeat-associated non-AUG translation from GC-rich repeats by preventing ribosomal stalling.

The paper develops NMDq, a next-generation sequencing method to quantify NMD status, and applies it to ALS and FTD, finding no significant PTC differences but showing UPF1 regulates RNA homeostasis through alternative polyadenylation.

This study shows that RNA methylation influences TDP43 binding and contributes to neurodegeneration in ALS by modulating RNA stability and TDP43 function.

This study shows TDP-43 stabilizes G3BP1 transcripts via direct binding, and TDP-43 depletion reduces G3BP1 protein levels, contributing to stress granule dysfunction in ALS/FTD.

This study shows that Sonic hedgehog signaling from cortical neurons regulates astrocyte development and synaptic connectivity during cortical circuit formation.

This study shows that shortened TDP43 isoforms, upregulated by neuronal hyperactivity, drive TDP43 pathology in ALS by forming cytoplasmic inclusions and sequestering full-length TDP43.