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Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.
Yang Z, Chen Y, Lillo C, Chien J, Yu Z, Michaelides M, Klein M, Howes KA, Li Y, Kaminoh Y, Chen H, Zhao C, Chen Y, Al-Sheikh YT, Karan G, Corbeil D, Escher P, Kamaya S, Li C, Johnson S, Frederick JM, Zhao Y, Wang C, Cameron DJ, Huttner WB, Schorderet DF, Munier FL, Moore AT, Birch DG, Baehr W, Hunt DM, Williams DS, Zhang K. Yang Z, et al. J Clin Invest. 2008 Aug;118(8):2908-16. doi: 10.1172/JCI35891. J Clin Invest. 2008. PMID: 18654668 Free PMC article.
Melanoregulin (MREG) modulates lysosome function in pigment epithelial cells.
Damek-Poprawa M, Diemer T, Lopes VS, Lillo C, Harper DC, Marks MS, Wu Y, Sparrow JR, Rachel RA, Williams DS, Boesze-Battaglia K. Damek-Poprawa M, et al. J Biol Chem. 2009 Apr 17;284(16):10877-89. doi: 10.1074/jbc.M808857200. Epub 2009 Feb 23. J Biol Chem. 2009. PMID: 19240024 Free PMC article.
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