Deciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy

Autosomal-dominant Stargardt-like macular dystrophy [Stargardt3 (STGD3)] results from single allelic mutations in the elongation of very-long–chain fatty acids-like 4 (ELOVL4), whereas recessive mutations lead to skin and brain dysfunction. ELOVL4 protein localizes to the endoplasmic reticulum, wher...

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Main Authors: Logan, Sreemathi, Agbaga, Martin-Paul, Chan, Michael D., Kabir, Nabila, Mandal, Nawajes A., Brush, Richard S., Anderson, Robert E.
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2013
Fag:
Biological Sciences
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3619277/
https://ncbi.nlm.nih.gov/pubmed/23509295
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1217251110
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