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A Crucial Role For The Protein Quality Control System In Motor Neuron Diseases., Riccardo Cristofani, Valeria Crippa, Maria Elena Cicardi, Barbara Tedesco, Veronica Ferrari, Marta Chierichetti, Elena Casarotto, Margherita Piccolella, Elio Messi, Mariarita Galbiati, Paola Rusmini, Angelo Poletti

Department of Neuroscience Faculty Papers

Motor neuron diseases (MNDs) are fatal diseases characterized by loss of motor neurons in the brain cortex, in the bulbar region, and/or in the anterior horns of the spinal cord. While generally sporadic, inherited forms linked to mutant genes encoding altered RNA/protein products have also been described. Several different mechanisms have been found altered or dysfunctional in MNDs, like the protein quality control (PQC) system. In this review, we will discuss how the PQC system is affected in two MNDs-spinal and bulbar muscular atrophy (SBMA) and amyotrophic lateral sclerosis (ALS)-and how this affects the clearance of aberrantly folded proteins, which …