NeuroscienceHuman Molecular GeneticsPeer-reviewed
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…·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.
10 citations