Sonia Vazquez‐Sanchez

This paper develops a multimodal spatial transcriptomics approach to study CAG repeat expansion, huntingtin aggregation, and neuron loss in Huntington's Disease using human brain tissue.

This study identifies acetylation of lysine 82 in TDP-43 as a mechanism causing nuclear loss of function and cytoplasmic accumulation, linked to neurodegenerative diseases like ALS.

This study shows that injecting human FUS fibrils into mice with human FUS causes FUS aggregation and FTLD-like disease progression, with prion-like spread and cognitive deficits.

This paper demonstrates that transient suppression of PTBP1 in aged glial cells can re-activate neurogenesis in murine and human brains, generating new neurons through canonical pathways.

This study identifies TDP-43 dysfunction and reduced m6A modification as mechanisms causing aberrant splicing in Huntington's disease using mouse and human brain data.

The paper identifies ELAVL3 as a downregulated RNA binding protein in ALS, showing nuclear depletion and mislocalization in motor neurons, with findings suggesting loss of function rather than cytoplasmic toxicity.

This study identifies SNX4 as a novel synaptic protein through localization and functional analysis in neurons.