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Article

Characterization of the most frequent ATP7B mutation causing Wilson disease in hepatocytes from patient induced pluripotent stem cells.

Scientific reports - 19 Apr 2018

Parisi Silvia, Polishchuk Elena V, Allocca Simona, Ciano Michela, Musto Anna, Gallo Maria, Perone Lucia, Ranucci Giusy, Iorio Raffaele, Polishchuk Roman S, Bonatti Stefano

Abstract excerpt

H1069Q substitution represents the most frequent mutation of the copper transporter ATP7B causing Wilson disease in Caucasian population. ATP7B localizes to the Golgi complex in hepatocytes but moves in response to copper overload to the endo-lysosomal compartment to support copper excretion via bile canaliculi. In heterologous or hepatoma-derived cell lines, overexpressed ATP7B-H1069Q is strongly retained in the...

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Identifiers

PMID: 29674751
DOI: 10.1038/s41598-018-24717-0
PMCID: PMC5908878

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Characterization of the most frequent ATP7B mutation causing Wilson disease in hepatocytes from patient induced pluripotent stem cells.PMID 29674751Read ↗

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