Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia

Familial dysautonomia (FD) is an autosomal recessive neurodegenerative disease caused by a splicing mutation in the gene encoding Elongator complex protein 1 (ELP1, also known as IKBKAP). This mutation results in tissue-specific skipping of exon 20 with a corresponding reduction of ELP1 protein, pre...

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Detalles Bibliográficos
Autores principales: Chekuri, Anil, Logan, Emily M, Krauson, Aram J, Salani, Monica, Ackerman, Sophie, Kirchner, Emily G, Bolduc, Jessica M, Wang, Xia, Dietrich, Paula, Dragatsis, Ioannis, Vandenberghe, Luk H, Slaugenhaupt, Susan A, Morini, Elisabetta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9169455/
https://www.ncbi.nlm.nih.gov/pubmed/34908112
http://dx.doi.org/10.1093/hmg/ddab359

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9169455/
https://www.ncbi.nlm.nih.gov/pubmed/34908112
http://dx.doi.org/10.1093/hmg/ddab359

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