Article
Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.
Brain : a journal of neurology - 2 May 2023
El-Bazzal Lara, Ghata Adeline, Estève Clothilde, Gadacha Jihane, Quintana Patrice, Castro Christel, Roeckel-Trévisiol Nathalie, Lembo Frédérique, Lenfant Nicolas, Mégarbané André, Borg Jean-Paul, Lévy Nicolas, Bartoli Marc, Poitelon Yannick, Roubertoux Pierre L, Delague Valérie, Bernard-Marissal Nathalie
Abstract excerpt
Charcot-Marie-Tooth (CMT) disease is one of the most common inherited neurological disorders, affecting either axons from the motor and/or sensory neurons or Schwann cells of the peripheral nervous system (PNS) and caused by more than 100 genes. We previously identified mutations in FGD4 as responsible for CMT4H, an autosomal recessive demyelinating form of CMT disease. FGD4 encodes FRABIN, a GDP/GTP nucleotide...
Topics
- Animals
- Mice
- Charcot-Marie-Tooth Disease
- Guanine Nucleotide Exchange Factors
- Mice, Knockout
- Mutation
- Neuregulin-1
- Schwann Cells
- Sciatic Nerve