Rémi Kinet

Jul 31, 2024 | nature.com | Rémi Kinet |Marie-Laure Arotcarena |Sylvain Bohic |Erwan Bezard |Pierre-Olivier Fernagut

AbstractLysosomal impairment is strongly implicated in Parkinson’s disease (PD). Among the several PD-linked genes, the ATP13A2 gene, associated with the PARK9 locus, encodes a transmembrane lysosomal P5-type ATPase. Mutations in the ATP13A2 gene were primarily identified as the cause of Kufor-Rakeb syndrome (KRS), a juvenile-onset form of PD. Subsequently, an increasing list of several mutations has been described.