The Elovl4 Spinocerebellar Ataxia-34 Mutation 736T>G (p.W246G) Impairs Retinal Function in the Absence of Photoreceptor Degeneration

Elongation of very long chain fatty acids-4 (ELOVL4) is essential for synthesis of very long chain polyunsaturated and saturated fatty acids (VLC-PUFA and VLC-SFA, respectively) of chain length greater than 26 carbons. Mutations in the ELOVL4 gene cause several distinct neurodegenerative diseases in...

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Detalles Bibliográficos
Autores principales: Agbaga, Martin-Paul, Stiles, Megan A., Brush, Richard S., Sullivan, Michael T., Machalinski, Adeline, Jones, Kenneth L., Anderson, Robert E., Sherry, David M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7515967/
https://www.ncbi.nlm.nih.gov/pubmed/32780351
http://dx.doi.org/10.1007/s12035-020-02052-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7515967/
https://www.ncbi.nlm.nih.gov/pubmed/32780351
http://dx.doi.org/10.1007/s12035-020-02052-8

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