Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia

Familial dysautonomia (FD) is a rare neurodegenerative disease caused by a splicing mutation in elongator acetyltransferase complex subunit 1 (ELP1). This mutation leads to the skipping of exon 20 and a tissue-specific reduction of ELP1, mainly in the central and peripheral nervous systems. FD is a...

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Detalles Bibliográficos
Autores principales: Morini, Elisabetta, Chekuri, Anil, Logan, Emily M., Bolduc, Jessica M., Kirchner, Emily G., Salani, Monica, Krauson, Aram J., Narasimhan, Jana, Gabbeta, Vijayalakshmi, Grover, Shivani, Dakka, Amal, Mollin, Anna, Jung, Stephen P., Zhao, Xin, Zhang, Nanjing, Zhang, Sophie, Arnold, Michael, Woll, Matthew G., Naryshkin, Nikolai A., Weetall, Marla, Slaugenhaupt, Susan A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10027479/
https://www.ncbi.nlm.nih.gov/pubmed/36809767
http://dx.doi.org/10.1016/j.ajhg.2023.01.019

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10027479/
https://www.ncbi.nlm.nih.gov/pubmed/36809767
http://dx.doi.org/10.1016/j.ajhg.2023.01.019

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