Article
Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3Mashl/+, Mouse Model of Alternating Hemiplegia of Childhood.
Human gene therapy - 1 Apr 2021
Hunanyan Arsen S, Kantor Boris, Puranam Ram S, Elliott Courtney, McCall Angela, Dhindsa Justin, Pagadala Promila, Wallace Keri, Poe Jordan, Gunduz Talha, Asokan Aravind, Koeberl Dwight D, ElMallah Mai K, Mikati Mohamad A
Abstract excerpt
Alternating Hemiplegia of Childhood (AHC) is a devastating autosomal dominant disorder caused by ATP1A3 mutations, resulting in severe hemiplegia and dystonia spells, ataxia, debilitating disabilities, and premature death. Here, we determine the effects of delivering an extra copy of the normal gene in a mouse model carrying the most common mutation causing AHC in humans, the D801N mutation. We used an...
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