Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Author Correction: Characterization of the most frequent ATP7B mutation causing Wilson disease in hepatocytes from patient induced pluripotent stem cells
por: Parisi, Silvia, et al.
Publicado: (2020) -
An αB-Crystallin Peptide Rescues Compartmentalization and Trafficking Response to Cu Overload of ATP7B-H1069Q, the Most Frequent Cause of Wilson Disease in the Caucasian Population
por: Allocca, Simona, et al.
Publicado: (2018) -
Wilson’s disease: Prospective developments towards new therapies
por: Ranucci, Giusy, et al.
Publicado: (2017) -
Zinc monotherapy is effective in Wilson’s disease patients with mild liver disease diagnosed in childhood: a retrospective study
por: Ranucci, Giusy, et al.
Publicado: (2014) -
Wilson Disease Protein ATP7B Utilizes Lysosomal Exocytosis to Maintain Copper Homeostasis
por: Polishchuk, Elena V., et al.
Publicado: (2014)