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

• Published in: Biochimica et biophysica acta. Molecular basis of disease Vol. 1866; no. 7; p. 165793
• Main Authors: 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, Campagnolo, Luisa, Pironi, Virginia, Oddone, Francesco, Manni, Priscilla, Foti, Salvatore, Giardina, Emiliano, De Felice, Claudio, Hayek, Joussef, Curatolo, Paolo, Galasso, Cinzia, Valacchi, Giuseppe, Coletta, Massimiliano, Graziani, Grazia, Marini, Stefano
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.07.2020
• Subjects: 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

Rett Syndrome (RTT) is a rare X-linked neurodevelopmental disorder which affects about 1: 10000 live births. In >95% of subjects RTT is caused by a mutation in Methyl-CpG binding protein-2 (MECP2) gene, which encodes for a transcription regulator with pleiotropic genetic/epigenetic activities. Th...