James D. Cooper

Mislocalisation of TDP-43 to the cytoplasm of either neurons or oligodendrocytes causes axonopathy and dysmyelination

This study shows that mislocalisation of TDP-43 to the cytoplasm in neurons or oligodendrocytes causes axonopathy and dysmyelination, highlighting the role of cell-type-specific loss of function in neurodegeneration.

Human induced pluripotent stem cell-derived microglia contribute to thepathophysiology of Fragile X syndrome via increased RAC1 signaling

This study shows that FMRP loss in microglia increases RAC1 signaling, leading to inflammation and neuronal hyperexcitability in FXS, which can be mitigated by RAC1 inhibition.

Cell-autonomous immune dysfunction driven by disrupted autophagy in C9orf72-ALS iPSC-derived microglia contributes to neurodegeneration

This study shows that C9orf72 mutations disrupt autophagy in microglia, leading to immune dysfunction and increased motor neuron death in ALS/FTD.

The ciliary gene INPP5E confers dorsal telencephalic identity to human cortical organoids by negatively regulating Sonic Hedgehog signalling

This study shows that INPP5E negatively regulates Sonic Hedgehog signaling in human cortical organoids, promoting dorsal telencephalic identity and preventing ventralization.