PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability

• Published in: Brain (London, England : 1878) Vol. 146; no. 4; pp. 1496 - 1510
• Main Authors: Fevga, Christina, Tesson, Christelle, Carreras Mascaro, Ana, Courtin, Thomas, van Coller, Riaan, Sakka, Salma, Ferraro, Federico, Farhat, Nouha, Bardien, Soraya, Damak, Mariem, Carr, Jonathan, Ferrien, Mélanie, Boumeester, Valerie, Hundscheid, Jasmijn, Grillenzoni, Nicola, Kessissoglou, Irini A, Kuipers, Demy J S, Quadri, Marialuisa, Corvol, Jean-Christophe, Mhiri, Chokri, Hassan, Bassem A, Breedveld, Guido J, Lesage, Suzanne, Mandemakers, Wim, Brice, Alexis, Bonifati, Vincenzo
• Format: Journal Article
• Language: English
• Published: US Oxford University Press 19.04.2023
• Subjects: Animals; Brain - metabolism; Drosophila melanogaster - genetics; Drosophila melanogaster - metabolism; Genetics; Human genetics; Intellectual Disability - genetics; Life Sciences; Neurons and Cognition; Original; Parkinsonian Disorders - genetics; Phosphoprotein Phosphatases - metabolism; Protein Phosphatase 2 - genetics; Protein Phosphatase 2 - metabolism; PTPA; PP2A; PPP2R4; parkinsonism; intellectual disability

Abstract The protein phosphatase 2A complex (PP2A), the major Ser/Thr phosphatase in the brain, is involved in a number of signalling pathways and functions, including the regulation of crucial proteins for neurodegeneration, such as alpha-synuclein, tau and LRRK2. Here, we report the identification...