Mouse Models of Stargardt 3 Dominant Macular Degeneration.
Salt Lake City, United States. In Adv Exp Med Biol, Dec 2015
In vitro expression studies suggest that mutated ELOVL4(STGD3) proteins fold improperly, resulting in ER stress and formation of cytosolic aggresomes of wild type and mutant ELOVL4.
[Genotype-phenotype correlation in patients with PRPH2-mutations].
Tübingen, Germany. In Klin Monbl Augenheilkd, Mar 2015
Blood samples were taken for DNA extraction and mutation analysis of PRPH2 and ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, FSCN2, PROM1, RDH12, RP1L1, RPGR, TIMP3 was performed.
The bisretinoids of retinal pigment epithelium.
New York City, United States. In Prog Retin Eye Res, 2012
Nevertheless, the formation of this material is accelerated in some retinal disorders including recessive Stargardt disease and ELOVL4-related retinal degeneration.