Small fibre neuropathy in Fabry disease: a human-derived neuronal in vitro disease model
Thomas C. Klein, Julia Grüner, Maximilian Breyer, Jan A. Schlegel, Nicole Michelle Schottmann, Lukas Hofmann, Kevin Gauss, Rebecca Audrey Mease, Christoph Erbacher, Laura Finke, Alexandra M. Klein, Katharina Klug, Franziska Karl‐Schöller, Bettina Vignolo, Sebastian Reinhard, , Nurcan Üçeyler
This study creates a neuronal in vitro model of Fabry disease to investigate small fibre neuropathy mechanisms, finding Gb3 accumulation, altered ion channel function, and mitochondrial trafficking issues.
bioRxiv · Aug 9, 2023 · PreprintNeuroscience