The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease

Disruption in copper homeostasis causes a number of cognitive and motor deficits. Wilson’s disease and Menkes disease are neurodevelopmental disorders resulting from mutations in the copper transporters ATP7A and ATP7B, with ATP7A mutations also causing occipital horn syndrome, and distal motor neur...

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Detalles Bibliográficos
Autores principales: Bakkar, Nadine, Starr, Alexander, Rabichow, Benjamin E., Lorenzini, Ileana, McEachin, Zachary T., Kraft, Robert, Chaung, Matthew, Macklin-Isquierdo, Sam, Wingfield, Taylor, Carhart, Briggs, Zahler, Nathan, Chang, Wen-Hsuan, Bassell, Gary J., Betourne, Alexandre, Boulis, Nicholas, Alworth, Samuel V., Ichida, Justin K., August, Paul R., Zarnescu, Daniela C., Sattler, Rita, Bowser, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9676097/
https://www.ncbi.nlm.nih.gov/pubmed/33359139
http://dx.doi.org/10.1016/j.nbd.2020.105228

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