Altered NRG1/ErbB4 signaling and cholesterol metabolism dysregulation are key pathomechanisms in VRK1-related motor neuropathies and motor neuron diseases
Zeinab Hamzé, Camille Humbert, Khalil Rihan, Nathalie Roëckel, Christel Castro, Nicolas Lenfant, Catherine Aubert, Karine Bertaux, Rosette A. Jabbour, Nathalie Bernard‐Marissal, André Mégarbané, Valérie Delague
The paper investigates VRK1-related motor neuropathies using hiPSC-MNs and bulk mRNA-Seq, identifying altered NRG1/ErbB4 signaling and cholesterol metabolism dysregulation as key pathomechanisms.
bioRxiv · Feb 19, 2024 · PreprintGenetics