Guillaume M. Hautbergue

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 compares AAV9-driven motor neuron transduction efficiency using different CNS delivery methods in mice, finding that unilateral ICV delivery provides the highest and most consistent transduction with minimal peripheral viral copies.

This study uses optogenetics to model C9orf72 poly-PR condensation in cells, revealing anisotropic nuclear condensates that cause TDP-43 pathology without stress response activation.

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 poly-GA DPRs are taken up by astrocytes via endocytosis, spread to motor neurons, and cause axonal swellings through lysosomal dysfunction.

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.

This study identifies ANKHD1 as a driver of ADPKD by promoting proliferation and fibrosis, showing its inhibition could be therapeutically beneficial.