Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations

• Published in: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease Vol. 1866; p. 165793
• Main Authors: 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., Campagnolo L., Pironi V., Oddone F., Manni P., Foti S., Giardina E., De Felice C., Hayek J., Curatolo P., Galasso C., Valacchi G., Coletta M., Graziani G., Marini S.
• Format: Journal Article
• Language: Japanese
• Published: Elsevier BV 01.07.2020
• Subjects: 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