Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators

Abstract Familial dysautonomia (FD) is a rare neurodevelopmental and neurodegenerative disease caused by a splicing mutation in the Elongator Acetyltransferase Complex Subunit 1 (ELP1) gene. The reduction in ELP1 mRNA and protein leads to the death of retinal ganglion cells (RGCs) and visual impairm...

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Bibliographic Details

Published in:	Scientific Reports
Main Authors:	Anastasia Schultz, Shun-Yun Cheng, Emily Kirchner, Stephanann Costello, Heini Miettinen, Marta Chaverra, Colin King, Lynn George, Xin Zhao, Jana Narasimhan, Marla Weetall, Susan Slaugenhaupt, Elisabetta Morini, Claudio Punzo, Frances Lefcort
Format:	Article
Language:	English
Published:	Nature Portfolio 2023-10-01
Online Access:	https://doi.org/10.1038/s41598-023-45376-w