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ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis

The FA Elongase-4 (ELOVL4) enzyme mediates biosynthesis of both very long chain (VLC)-PUFAs and VLC-saturated FA (VLC-SFAs). VLC-PUFAs play critical roles in retina and sperm function, whereas VLC-SFAs are predominantly associated with brain function and maintenance of the skin permeability barrier....

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Detalles Bibliográficos
Autores principales: Gyening, Yeboah Kofi, Chauhan, Neeraj Kumar, Tytanic, Madison, Ea, Vicki, Brush, Richard S., Agbaga, Martin-Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9823237/
https://www.ncbi.nlm.nih.gov/pubmed/36464075
http://dx.doi.org/10.1016/j.jlr.2022.100317