Robert Prior, Alessio Silva, Tim Vangansewinkel, Jakub Idkowiak, Arun Kumar Tharkeshwar, Tom P Hellings, Iliana Michailidou, Jeroen Vreijling, Maarten Loos, Bastijn Koopmans, Nina Vlek, Cedrick Agaser, Thomas B Kuipers, Christine Michiels, Elisabeth Rossaert, Stijn Verschoren, Wendy Vermeire, Vincent de Laat, Jonas Dehairs, Kristel Eggermont, Diede van den Biggelaar, Adekunle T Bademosi, Frederic A Meunier, Martin vandeVen, Philip Van Damme, Hailiang Mei, Johannes V Swinnen, Ivo Lambrichts, Frank Baas, Kees Fluiter, Esther Wolfs, Ludo Van Den Bosch
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy caused by a 1.5 megabase tandem duplication of chromosome 17 harboring the PMP22 gene. This dose-dependent overexpression of PMP22 results in disrupted Schwann cell myelination of peripheral nerves. To get better insights into the underlying pathogenic mechanisms in CMT1A, we investigated the role of PMP22 duplication on cellular homeostasis in CMT1A mouse models and in patient-derived induced pluripotent stem cells differentiated into Schwann cell precursors (iPSC-SCPs)...
May 14, 2024: Brain