Adele Finardi

TL;DR: This work identifies AFG3L2 as a novel cause of dominant neurodegenerative disease and indicates a previously unknown role for this component of the mitochondrial protein quality control machinery in protecting the human cerebellum against neurodegenersation.

TL;DR: Investigating the NMDA receptor and related protein composition in human epileptic patients affected by periventricular nodular heterotopia, subcortical band heterotopy, or focal cortical dysplasia demonstrates that diverse human developmental malformations are associated with different alterations of the NMda receptor, which may contribute to the genesis of epileptic phenomena.

TL;DR: Data show that status epilepticus sets in motion a pathological process capable of significantly changing the cellular and molecular features of pre-existing experimental cortical malformations, and suggest that seizure recurrence in human focal cortical dysplasia might be an additional factor in establishing a pathological circuitry that favours chronic neuronal hyperexcitability.

TL;DR: The results suggest the existence of a previously unexplored cross-talk between neurotrophins and NMDA receptors in rat spinal cord neurons.

TL;DR: The hypothesis that epilepsy itself alters morphology—and probably also function—in the malformed epileptic brain is supported, and it is suggested that glutamate/NMDA/MAGUK dysregulation might be the intracellular trigger that modifies brain morphology and induces cell death.