Factors in the disease severity of ATP1A3 mutations: impairment, misfolding, and allele competition

Dominant mutations of ATP1A3, a neuronal Na,K-ATPase α subunit isoform, cause neurological disorders with an exceptionally wide range of severity. Several new mutations and their phenotypes are reported here (p.Asp366His, p.Asp742Tyr, p.Asp743His, p.Leu924Pro, and a VUS, p.Arg463Cys). Mutations asso...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Neurobiol Dis
Prif Awduron: Arystarkhova, Elena, Haq, Ihtsham U., Luebbert, Timothy, Mochel, Fanny, Saunders-Pullman, Rachel, Bressman, Susan B., Feschenko, Polina, Salazar, Cynthia, Cook, Jared F., Demarest, Scott, Brashear, Allison, Ozelius, Laurie J., Sweadner, Kathleen J.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2019
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7397496/
https://ncbi.nlm.nih.gov/pubmed/31425744
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2019.104577
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