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

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 impairment in al...

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Detalles Bibliográficos
Autores principales: Schultz, Anastasia, Cheng, Shun-Yun, Kirchner, Emily, Costello, Stephanann, Miettinen, Heini, Chaverra, Marta, King, Colin, George, Lynn, Zhao, Xin, Narasimhan, Jana, Weetall, Marla, Slaugenhaupt, Susan, Morini, Elisabetta, Punzo, Claudio, Lefcort, Frances
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10616160/
https://www.ncbi.nlm.nih.gov/pubmed/37903840
http://dx.doi.org/10.1038/s41598-023-45376-w

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