Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations - Sbardella, Diego; Tundo, Grazia Raffaella; Cunsolo, Vincenzo; Grasso, Giuseppe; Cascella, Raffaella; Caputo, Valerio; Santoro, Anna Maria; Milardi, Danilo; Pecorelli, Alessandra; Ciaccio, Chiara; Di Pierro, Donato; Leoncini, Silvia; et al. (Biochimica et biophysica acta. Molecular basis of disease, 2020)
Keywords: Codon, Nonsense - genetics; Dual Specificity Phosphatase 2 - genetics; Fibroblasts - metabolism; Gene Expression Regulation; Genetic Diseases, X-Linked - genetics; Genetic Diseases, X-Linked - pathology; Humans; Methyl-CpG-Binding Protein 2 - genetics; Neurodevelopmental Disorders - genetics; Neurodevelopmental Disorders - pathology; PAC1; PAC2; Primary Cell Culture; Proteasome; Proteasome Endopeptidase Complex - genetics; Proteolysis; Rett syndrome; Rett Syndrome - genetics; Rett Syndrome - pathology; Skin - metabolism; Skin - pathology; Skin primary fibroblasts; Ubiquitin - genetics; α-Ring; α-Ring; PAC1; Skin primary fibroblasts; PAC2; Rett syndrome; Proteasome