Avtor/Urednik		Barabas, Peter; Gorusupudi, Aruna; Bernstein, Paul S.; Križaj, David
Naslov		Mouse models of stargardt 3 dominant macular degeneration
Tip		članek
Vir		In: Retinal degenerative diseases : mechanisms and experimental therapy Cham : Springer
Leto izdaje		2015
Obseg		str. 137-143
Jezik		eng
Abstrakt		Stargardt type 3 macular degeneration is dependent on a dominant defect in a single gene, ELOVL4 (elongase of very long chain fatty acids 4). The encoded enzyme, ELOVL4, is required for the synthesis of very long chain polyunsaturated fatty acids (VLC-PUFAs), a rare class of > C24 lipids. In vitro expression studies suggest that mutated ELOVL4STGD3 proteins fold improperly, resulting in ER stress and formation of cytosolic aggresomes of wild type and mutant ELOVL4. Although a number of mouse models have been developed to determine whether photoreceptor cell loss in STGD3 results from depletion of VLC-PUFAs, aggresome-dependent cell stress or a combination of these two factors, none of these models adequately recapitulates the disease phenotype in humans. Thus, the precise molecular mechanism by which ELOVL4 mutation causes photoreceptor degeneration in mice and in human patients remains to be characterized. This mini review compares and evaluates current STGD3 mouse models and determines what conclusions can be drawn from past work.
Proste vsebinske oznake		degeneracija makule STGD3 ELOVL4 macular degeneration STGD3 ELOVL4