Loss of function of the mitochondrial peptidase PITRM1 induces proteotoxic stress and Alzheimer’s disease-like pathology in human cerebral organoids

Mutations in pitrilysin metallopeptidase 1 (PITRM1), a mitochondrial protease involved in mitochondrial precursor processing and degradation, result in a slow-progressing syndrome characterized by cerebellar ataxia, psychotic episodes, and obsessive behavior, as well as cognitive decline. To investi...

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Detalles Bibliográficos
Autores principales: Pérez, María José, Ivanyuk, Dina, Panagiotakopoulou, Vasiliki, Di Napoli, Gabriele, Kalb, Stefanie, Brunetti, Dario, Al-Shaana, Rawaa, Kaeser, Stephan A., Fraschka, Sabine Anne-Kristin, Jucker, Mathias, Zeviani, Massimo, Viscomi, Carlo, Deleidi, Michela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8758476/
https://www.ncbi.nlm.nih.gov/pubmed/32632204
http://dx.doi.org/10.1038/s41380-020-0807-4

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