Davide Trotti

This study develops a human neuronal model with the TDP-43 A315T mutation to study ALS-related protein dysfunction and therapeutic responses.

This paper delivers (G4C2)149 repeats intrathecally in C9orf72-deficient mice, revealing mild motor dysfunction and ALS/FTD pathological features.

This study shows that increased neuronal activity can restore circadian function in Drosophila models of C9orf72-ALS/FTD.

CAR-T cells targeting uPAR selectively ablate pathogenic microglia while sparing neurons, enabling precision immunotherapy for ALS.

This study shows that C9orf72 repeat expansion neurons have altered transcriptomes under different stimulation conditions, revealing activity-dependent gene dysregulation in ALS/FTD.

This study shows glucose hypometabolism in C9orf72-related ALS/FTD leads to DPR production, neuronal death, and motor dysfunction through GCN2 activation.

The paper shows ARID1A-haploinsufficiency impairs EMT in CNCC specification by disrupting ARID1A-BAF binding at EMT enhancers, which affects ZIC2 occupancy and leads to aberrant neuronal gene activation.

This study shows that Kapβ2 protein interacts with poly(GR) and reduces its neurotoxicity in C9orf72-linked ALS/FTD by improving neuron survival.

This study shows that C9orf72 poly(PR) causes nucleolar stress and neurotoxicity, which can be mitigated by reducing p53 levels in fly and rat models.

This study shows that reducing ephrinB2 in spinal cord astrocytes of ALS mice preserves diaphragm innervation and respiratory function.

This study identifies JUN upregulation as a driver of transposable element mobilization, innate immune activation, and impaired neurogenesis in Alzheimer's disease.

This study shows that astrocytic expression of mutant FUS causes TNF-dependent neurodegeneration in ALS, highlighting a therapeutic target.