Federica Cerri

TL;DR: It is demonstrated here that HSC gene therapy, based on lentiviral vectors, completely corrects disease manifestations in the mouse model and provides evidence of an efficacious treatment for MPS I Hurler patients, warranting future development toward clinical testing.

TL;DR: It is proposed that mitochondria undergo biogenesis in response to hyperglycaemia, but the increased biogenesis is insufficient to accommodate the metabolic load, and reduction of aberrant mitochondrial fission increases neuronal survival and indicates an important role for the fission–fusion equilibrium in the pathogenesis of diabetic neuropathy.

TL;DR: TACE is a modulator of NRG1 type III activity and is a negative regulator of myelination in the PNS, and the inhibitory effect of TACE is neuron-autonomous, as Schwann cells lacking TACE elaborate myelin of normal thickness.

TL;DR: The data suggest that an imbalance between mitochondrial biogenesis and fission may play a role in the pathogenesis of diabetic neuropathy, and excessive mitochondrial fissions may result in dysregulation of energy production, activation of caspase 3, and subsequent DRG neuron injury.

TL;DR: Evidence is provided that antibodies to nodal/paranodal proteins identify patients with CIDP and preliminary evidence from a single patient about the pathogenicity of anti-Caspr1 IgG4, showing their ability to penetrate paranodal regions and disrupt the integrity of the Nfasc155/CNTN1/ Caspr1 complex.