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

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 bil...

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Detalles Bibliográficos
Autores principales: Parisi, Silvia, Polishchuk, Elena V., Allocca, Simona, Ciano, Michela, Musto, Anna, Gallo, Maria, Perone, Lucia, Ranucci, Giusy, Iorio, Raffaele, Polishchuk, Roman S., Bonatti, Stefano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5908878/
https://www.ncbi.nlm.nih.gov/pubmed/29674751
http://dx.doi.org/10.1038/s41598-018-24717-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5908878/
https://www.ncbi.nlm.nih.gov/pubmed/29674751
http://dx.doi.org/10.1038/s41598-018-24717-0

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