Claudio A. Hetz

This study identifies RECS1 as a structural component of the exosomal trafficking machinery and shows it modulates extracellular vesicle biogenesis through a channel-independent mechanism.

This study develops a next-generation AAV vector expressing optimized XBP1s to improve proteostasis, reducing Alzheimer's disease features in mouse models.

This study shows that oral DBM treatment prevents cognitive decline in a C9ORF72 FTD mouse model without altering protein inclusions but corrects gene expression changes related to cytoskeleton, ALS, and metabolism.

This study shows that sustained XBP1s expression preserves retinal function and complexity in aging and Alzheimer's disease models.

The paper identifies novel IRE1 interactors that regulate its RNase activity and stability, revealing new functions in the unfolded protein response.

This study shows that BAX and BAK deficiency increases ER stress threshold for XBP1 splicing and reduces RIDD substrate degradation and IRE1 phosphorylation.

This study characterizes the mutational landscape of high-grade gliomas in a Chilean cohort, identifying novel mutations and highlighting genetic differences compared to non-Latin American populations.

The paper performs proteomic analysis of Huntington's disease patient-derived medium spiny neurons, identifying altered lipid metabolism and lipid droplet accumulation as key findings.

The paper shows that manipulating the UPR pathway can restore brain function and reduce aging-related deficits.

This study shows that forcing dimerization between ATF6f and XBP1s enhances UPR activity, reducing protein aggregation in neurodegenerative disease models.

This study identifies IGF2 as a disease modifier that reduces intracellular protein aggregates by promoting their extracellular disposal in Huntington's disease models.

This study shows that necroptosis mediates axonal degeneration in Parkinson's disease, suggesting it as a targetable pathway.