Dysregulation of FLVCR1-dependent mitochondrial calcium handling in neural stem cells causes congenital hydrocephalus
Diletta Isabella Zanin Venturini, Francesca Bertino, Dibyanti Mukherjee, Massimo Bonora, Christoph Bagowski, Jeannette Nardelli, Livia Metani, Diego Chianese, Nicolas Santander Grez, Iris Chiara Salaroglio, Andreas Hentschel, Elisa Quarta, Tullio Genova, Arpana Arjun McKinney, Annalucia Allocco, Veronica Fiorito, Francesco De Giorgio, Sara Petrillo, Giorgia Ammirata, Evan Dennis, Garrett Allington, Felicitas Maier, Moneef Shoukier, Karl-Philipp Gloning, Luca Munaron, Federico Mussano, Fiorella Altruda, Georgia Panagiotakos, Kristopher T. Kahle, Pierre Gressens, Chiara Riganti, Paolo Pinton, Andreas Roos, Thomas Arnold, Emanuela Tolosano, Deborah Chiabrando · FENS Forum 2024
Congenital hydrocephalus (CH) is a complex neurodevelopmental disorder characterized by enlarged brain ventricles and reduced cognitive functions. Here, we identified FLVCR1a (Feline Leukemia Virus Subgroup C Receptor 1) as a novel gene responsible for CH in humans. However, the molecular mechanism linking FLVCR1 loss to neurodevelopmental defects is still elusive. To clarify this, we generated mice lacking Flvcr1a in neural progenitor cells (NPCs) by using rat-Nestin promoter CRE model (NesCRE). Interestingly, the FLVCR1a fl/fl-NesCRE+ model recapitulates the main features of the human diseas
ePoster · Neuroscience