Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia
Anil K. Chekuri, Emily M. Logan, Aram J. Krauson, Monica Salani, Sophie Ackerman, Emily G. Kirchner, Jessica Bolduc, Xia Wang, Paula Dietrich, Ioannis Dragatsis, Luk H. Vandenberghe, Susan Slaugenhaupt, Elisabetta Morini
This study characterizes retinal degeneration in a humanized mouse model of familial dysautonomia and shows that the splicing modulator BPN-15477 can correct the ELP1 splicing defect in the retina.
Human Molecular Genetics · Dec 13, 2021Peer-reviewedNeuroscience