Article
Effective knockdown-replace gene therapy in a novel mouse model of DNM1 developmental and epileptic encephalopathy.
Molecular therapy : the journal of the American Society of Gene Therapy - 2 Oct 2024
Jones Devin J, Soundararajan Divya, Taylor Noah K, Aimiuwu Osasumwen V, Mathkar Pranav, Shore Amy, Teoh Jia Jie, Wang Wanqi, Sands Tristan T, Weston Matthew C, Harper Scott Q, Frankel Wayne N
Abstract excerpt
Effective gene therapy for gain-of-function or dominant-negative disease mutations may require eliminating expression of the mutant copy together with wild-type replacement. We evaluated such a knockdown-replace strategy in a mouse model of DNM1 disease, a debilitating and intractable neurodevelopmental epilepsy. To challenge the approach robustly, we expressed a patient-based variant in GABAergic neurons-which...
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