Development of a novel oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia.
Elisabetta Morini, Anil K. Chekuri, Emily M. Logan, Jessica Bolduc, Emily G. Kirchner, Monica Salani, Aram J. Krauson, Jana Narasimhan, Vijayalakshmi Gabbeta, Shivani Grover, Amal Dakka, Anna Mollin, Stephen P. Jung, Xin Zhao, Nanjing Zhang, , Susan Slaugenhaupt
This paper develops an oral treatment, PTC258, that restores ELP1 splicing and improves symptoms in a mouse model of familial dysautonomia.
The American Journal of Human Genetics · Feb 20, 2023Peer-reviewedGenetics