Lydia M. Castelli

This study identifies distinct astrocyte states in C9orf72 expansion carriers discordant for ALS, linking epigenetic changes, stress, and functional dysfunction to disease onset.

This study creates a zebrafish model of C9orf72-ALS/FTD using RAN translation and shows hypothermia reduces DPR pathology and motor deficits.

GRASPS identifies more differentially expressed transcripts with higher fold changes and significance in TDP-43 ALS models, revealing previously missed disease pathways.

This study identifies a novel RNA-binding function of PGC-1alpha that couples transcriptional co-activation with mRNA nuclear export and mitochondrial homeostasis.

This paper develops a cell-penetrant peptide that blocks C9ORF72-repeat RNA nuclear export, reducing neurodegeneration in preclinical models of ALS and FTD.

The paper identifies reduced EXOSC2 expression as protective against SARS-CoV-2 infection and clinical COVID-19 by inhibiting viral replication and upregulating antiviral genes.

This study shows that inhibiting SRSF1-dependent nuclear export of C9ORF72-repeat transcripts in ALS models protects neurons and identifies key RNA changes involved in disease.