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

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...

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Bibliographic Details
Main Authors: Elena Arystarkhova, Ihtsham U. Haq, Timothy Luebbert, Fanny Mochel, Rachel Saunders-Pullman, Susan B. Bressman, Polina Feschenko, Cynthia Salazar, Jared F. Cook, Scott Demarest, Allison Brashear, Laurie J. Ozelius, Kathleen J. Sweadner
Format: Article
Language:English
Published: Elsevier 2019-12-01
Series:Neurobiology of Disease
Subjects:
Dystonia
Ataxia
Epilepsy
Neurodegeneration
Mutation validation
Phenotype-genotype relationship
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996119302451

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http://www.sciencedirect.com/science/article/pii/S0969996119302451

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