Article
Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1.
Neurobiology of disease - 1 Mar 2022
Bos Rémi, Rihan Khalil, Quintana Patrice, El-Bazzal Lara, Bernard-Marissal Nathalie, Da Silva Nathalie, Jabbour Rosette, Mégarbané André, Bartoli Marc, Brocard Frédéric, Delague Valérie
Abstract excerpt
We recently described new pathogenic variants in VRK1, in patients affected with distal Hereditary Motor Neuropathy associated with upper motor neurons signs. Specifically, we provided evidences that hiPSC-derived Motor Neurons (hiPSC-MN) from these patients display Cajal Bodies (CBs) disassembly and defects in neurite outgrowth and branching. We here focused on the Axonal Initial Segment (AIS) and the related...
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