Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations - Sbardella D.; Tundo G. R.; Cunsolo V.; Grasso G.; Cascella R.; Caputo V.; Santoro A. M.; Milardi D.; Pecorelli A.; Ciaccio C.; Di Pierro D.; Leoncini S.; et al. (Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2020)
Keywords: alpha-Ring; Codon, Nonsense; Dual Specificity Phosphatase 2; Fibroblasts; Gene Expression Regulation; Genetic Diseases, X-Linked; Humans; Methyl-CpG-Binding Protein 2; Neurodevelopmental Disorders; PAC1; PAC1; PAC2; Proteasome; Rett syndrome; Skin primary fibroblasts; α-Ring; PAC2; Primary Cell Culture; Proteasome; Proteasome Endopeptidase Complex; Proteolysis; Rett syndrome; Rett syndrome,Skin primary fibroblasts, Proteasome,α-Ring, PAC1, PAC2; Ring; Settore BIO/10 - BIOCHIMICA; Skin; Skin primary fibroblast; Skin primary fibroblasts; Ubiquitin; α-Ring