Copper-Induced Epigenetic Changes Shape the Clinical Phenotype in Wilson's Disease
Fanni, Daniela
First
Writing - Original Draft Preparation
;Gerosa, ClaraSecond
Writing - Original Draft Preparation
;Nurchi, Valeria MarinaWriting - Review & Editing
;Cappai, RositaWriting - Review & Editing
;Mureddu, MartaWriting - Review & Editing
;Luca, SabaWriting - Review & Editing
;Manchia, MirkoPenultimate
Writing - Review & Editing
;Faa, GavinoLast
Writing - Original Draft Preparation
2021-01-01
Abstract
Wilson's disease is a congenital disorder of copper metabolism whose pathogenesis remains, at least in part, unknown. Subjects carrying the same genotype may show completely different phenotypes, differing for the age at illness onset or for the hepatic, neurologic or psychiatric clinical presentation. The inability to find a unequivocal correlation between the type of mutation in the ATPase copper transporting beta (ATP7B) gene and the phenotypic manifestation, has encouraged many authors to look for epigenetic factors interacting with the genetic changes. Here, the evidences regarding the ability of copper overload to change the global DNA methylation status are discussed.File | Size | Format | |
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Fanni_2020.pdf Solo gestori archivio
Description: Articolo principale
Type: versione post-print
Size 1.37 MB
Format Adobe PDF
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1.37 MB | Adobe PDF | & nbsp; View / Open Request a copy |
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