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

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Bibliographic Details
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
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ISSN:	0925-4439
DOI:	10.1016/j.bbadis.2020.165793