Nature Communications (Apr 2023)

Glucocerebrosidase is imported into mitochondria and preserves complex I integrity and energy metabolism

  • Pascale Baden,
  • Maria Jose Perez,
  • Hariam Raji,
  • Federico Bertoli,
  • Stefanie Kalb,
  • María Illescas,
  • Fokion Spanos,
  • Claudio Giuliano,
  • Alessandra Maria Calogero,
  • Marvin Oldrati,
  • Hannah Hebestreit,
  • Graziella Cappelletti,
  • Kathrin Brockmann,
  • Thomas Gasser,
  • Anthony H. V. Schapira,
  • Cristina Ugalde,
  • Michela Deleidi

DOI
https://doi.org/10.1038/s41467-023-37454-4
Journal volume & issue
Vol. 14, no. 1
pp. 1 – 21

Abstract

Read online

GBA1 mutations cause Gaucher’s disease and are the strongest risk factor for Parkinson’s disease. Using stable cell lines and patient iPSCs, the authors show mitochondrial localization of GBA1, which may affect neurodegenerative disease risk.