Paola Giunti

This study shows TSPO on mitochondria promotes microglial inflammasome activation by stabilizing NLR proteins, inhibiting mitophagy, and enhancing pro-inflammatory gene expression, leading to excitotoxicity.

This study uses bulk and single nuclear RNA-sequencing to analyze transcriptomic changes in repeat expansion ataxias, revealing distinct non-neuronal cell type-specific disease signatures across the human brain.

This study investigates FXN depletion in cerebellar astrocytes, revealing altered calcium responses and antioxidant properties that may contribute to neurodegeneration in Friedreich's ataxia.

The paper identifies and compares the abundance of ATXN3 splice variants in blood and cerebellum of SCA3/MJD patients and controls, finding tissue-specific expression patterns of full-length ataxin-3 isoforms.

This study demonstrates that whole genome sequencing can effectively detect repeat expansions in neurological disorders with high sensitivity and specificity, enabling diagnosis in previously undiagnosed patients.