Epigenomic signatures in liver and blood of Wilson disease patients include hypermethylation of liver-specific enhancers

Abstract Background Wilson disease (WD) is an autosomal recessive disease caused by mutations in ATP7B encoding a copper transporter. Consequent copper accumulation results in a variable WD clinical phenotype involving hepatic, neurologic, and psychiatric symptoms, without clear genotype–phenotype c...

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Autori principali:	Charles E. Mordaunt, Dorothy A. Kieffer, Noreene M. Shibata, Anna Członkowska, Tomasz Litwin, Karl-Heinz Weiss, Yihui Zhu, Christopher L. Bowlus, Souvik Sarkar, Stewart Cooper, Yu-Jui Yvonne Wan, Mohamed R. Ali, Janine M. LaSalle, Valentina Medici
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2019-02-01
Serie:	Epigenetics & Chromatin
Soggetti:	Wilson disease Epigenetics Copper DNA methylation Whole-genome bisulfite sequencing Chromatin
Accesso online:	http://link.springer.com/article/10.1186/s13072-019-0255-z
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