A Stargardt disease-3 mutation in the mouse Elovl4 gene causes retinal deficiency of C32-C36 acyl phosphatidylcholines
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چکیده
منابع مشابه
Polyunsaturated very-long-chain C28-C36 fatty acids and retinal physiology.
Recent studies have established that retinal health depends on the presence of polyunsaturated C28-C36 fatty acids, in addition to docosahexaenoic acid (DHA, C22:6n-3). Initially characterised 20 years ago, these C28-C36 fatty acids are found as sn-1 acyl components of retinal phosphatidylcholines (PCs), which have DHA in the sn-2 position. This unique PC species is found in both rod- and cone-...
متن کاملEpidermal expression of an Elovl4 transgene rescues neonatal lethality of homozygous Stargardt disease-3 mice.
Elongase of very long chain fatty acids-4 (ELOVL4) is the only mammalian enzyme known to synthesize C28-C36 fatty acids. In humans, ELOVL4 mutations cause Stargardt disease-3 (STGD3), a juvenile dominant macular degeneration. Heterozygous Stgd3 mice that carry a pathogenic mutation in the mouse Elovl4 gene demonstrate reduced levels of retinal C28-C36 acyl phosphatidylcholines (PC) and epiderma...
متن کاملRole of ELOVL4 and very long-chain polyunsaturated fatty acids in mouse models of Stargardt type 3 retinal degeneration.
Stargardt type 3 (STGD3) disease is a juvenile macular dystrophy caused by mutations in the ELOVL4 (Elongation of very long chain fatty acids 4) gene. Its protein product, ELOVL4, is an elongase required for the biosynthesis of very long-chain polyunsaturated fatty acids (VLC-PUFAs). It is unclear whether photoreceptor degeneration in STGD3 is caused by loss of VLC-PUFAs or by mutated ELOVL4 pr...
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ژورنال
عنوان ژورنال: FEBS Letters
سال: 2007
ISSN: 0014-5793
DOI: 10.1016/j.febslet.2007.10.050