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PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability
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 of varia...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10115167/ https://www.ncbi.nlm.nih.gov/pubmed/36073231 http://dx.doi.org/10.1093/brain/awac326 |
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