Emerging insights into the function of very long chain fatty acids at cerebellar synapses
Author:
Affiliation:
1. Department of Cell Biology and Ophthalmology, University of Oklahoma Health Sciences Center, and Dean McGee Eye Institute, Oklahoma City, OK, USA
Publisher
Medknow
Reference12 articles.
1. Role of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acids;Agbaga;Proc Natl Acad Sci U S A,2008
2. The Elovl4 spinocerebellar Ataxia-34 mutation 736T>G (p.W246G) impairs retinal function in the absence of photoreceptor degeneration;Agbaga;Mol Neurobiol,2020
3. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia;Aldahmesh;Am J Hum Genet,2011
4. A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report;Gyening;Acta Neuropathol Commun,2023
5. ELOVL4 mutations that cause spinocerebellar ataxia-34 differentially alter very long chain fatty acid biosynthesis;Gyening;J Lipid Res,2023
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