Pierre-Olivier Fernagut

Sep 8, 2024 | nature.com | Pierre-Olivier Fernagut

AbstractParkinson’s disease is characterized by the degeneration of substantia nigra pars compacta (SNc) dopaminergic neurons, leading to motor and cognitive symptoms. Numerous cellular and molecular adaptations following neurodegeneration or dopamine replacement therapy (DRT) have been described in motor networks but little is known regarding associative basal ganglia loops.

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.