Chapter title |
Current Progress in Deciphering Importance of VLC-PUFA in the Retina
|
---|---|
Chapter number | 20 |
Book title |
Retinal Degenerative Diseases
|
Published in |
Advances in experimental medicine and biology, January 2016
|
DOI | 10.1007/978-3-319-17121-0_20 |
Pubmed ID | |
Book ISBNs |
978-3-31-917120-3, 978-3-31-917121-0
|
Authors |
Lea D. Bennett, Robert E. Anderson, Bennett, Lea D., Anderson, Robert E. |
Abstract |
Stargardt-like macular dystrophy-3 (STGD3) is a juvenile-onset disease caused by mutations in ELOVL4 (elongation of very long fatty acids-4). This gene product catalyzes the elongation of long chain saturated and polyunsaturated fatty acids (LC-FAs and LC-PUFAs) into very long chain FAs and PUFAs (VLC-FAs and VLC-PUFAs). These mutations cause a frame shift in the ELOVL4 transcript, introducing a premature stop codon that results in the translation of a truncated protein that has lost a C-terminus endoplasmic reticulum (ER) retention/retrieval signal. The truncated protein is not targeted to the ER, the site of very long-chain PUFA (VLC-PUFA; 28-40 carbons) synthesis. Expression of the ELOVL4 gene is limited mainly to the brain, testis, skin, and photoreceptor cells of the retina. While the skin and brain contain very long chain saturated fatty acids (VLC-FAs), the other tissues expressing ELOVL4 contain VLC-PUFAs, with sperm and the retina having the highest levels. This review focuses on the current information available concerning the role of VLC-PUFAs in the retina. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 25 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 4 | 16% |
Researcher | 3 | 12% |
Student > Master | 3 | 12% |
Student > Bachelor | 2 | 8% |
Professor | 2 | 8% |
Other | 4 | 16% |
Unknown | 7 | 28% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 5 | 20% |
Biochemistry, Genetics and Molecular Biology | 3 | 12% |
Medicine and Dentistry | 3 | 12% |
Chemistry | 2 | 8% |
Earth and Planetary Sciences | 1 | 4% |
Other | 3 | 12% |
Unknown | 8 | 32% |