| 1. |
Pearce WG. Doyne’s honeycomb retinal degeneration: clinical and genetic features[J]. Br J Ophthalmol, 1968, 52(2): 73-78.
|
| 2. |
Hulleman JD, Kaushal S, Balch WE, et al. Compromised mutant EFEMP1 secretion associated with macular dystrophy remedied by proteostasis network alteration[J]. Mol Biol Cell, 2011, 22(24): 4765-4775. DOI: 10.1091/mbc.E11-08-0695.
|
| 3. |
Marmorstein L. Association of EFEMP1 with malattia leventinese and age-related macular degeneration: a mini-review[J]. Ophthalmic Genet, 2004, 25(3): 219-226. DOI: 10.1080/13816810490498305.
|
| 4. |
Stone EM, Lotery AJ, Munier FL, et al. A single EFEMP1 mutation associated with both malattia leventineseand doyne honeycomb retinal dystrophy[J]. Nat Genet, 1999, 22(2): 199-202. DOI: 10.1038/9722.
|
| 5. |
Hulleman John D. Malattia leventinese/doyne honeycomb retinal dystrophy: similarities to age-related macular degeneration and potential therapies[J]. Adv Exp Med Biol, 2016, 854: 153-158. DOI: 10.1007/978-3-319-17121-0_21.
|
| 6. |
Zweifel SA, Maygar I, Berger W, et al. Multimodal imaging of autosomal dominant drusen[J]. Klin Monbl Augenheilkd, 2012, 229(4): 399-402. DOI: 10.1055/s-0031-1299404.
|
| 7. |
Ehlermann J, Weber S, Pfisterer P, et al. Cloning, expression and characterization of the murine EFEMP1, a gene mutated in doyne-honeycomb retinal dystrophy[J]. Gene Expr Patterns, 2003, 3(4): 441-447.
|
| 8. |
Timpl R, Sasaki T, Kostka G, et al. Fibulins: a versatile family of extracellular matrix proteins[J]. Nature Reviews Mol Cell Biol, 2003, 4(6): 479-489. DOI: 10.1038/nrm1130.
|
| 9. |
Argraves WS, Greene LM, Cooley MA, et al. Fibulins: physiological and disease perspectives[J]. EMBO Rep, 2003, 4(12): 1127-1131. DOI: 10.1038/sj.embor.7400033.
|
| 10. |
Zhang Y, Marmorstein LY. Focus on molecules: fibulin-3 (EFEMP1)[J]. Exp Eye Res, 2010, 90(3): 374-375. DOI: 10.1016/j.exer.2009.09.018.
|
| 11. |
Marmorstein LY, Mclaughlin PJ, Peachey NS, et al. Formation and progression of sub-retinal pigment epithelium deposits in EFEMP1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration[J]. Hum Mol Genet, 2007, 16(20): 2423-2432. DOI: 10.1093/hmg/ddm199.
|
| 12. |
Querques G, Guigui B, Leveziel N, et al. Multimodal morphological and functional characterization of Malattia Leventinese[J]. Graefe’s Arch Clin Exp Ophthalmol, 2013, 251(3): 705-714. DOI: 10.1007/s00417-012-2106-5.
|
| 13. |
Von RA, Schmidt KG, Fitzke FW, et al. Fundus autofluorescence in patients with hereditary macular dystrophies, malattia leventinese, familial dominant and aged-related drusen[J]. Klin Monbl Fur Augenheilkd, 1998, 213(2): 81-86. DOI: 10.1055/s-2008-1034951.
|
| 14. |
Jeong YJ, Hong IH, Chung JK, et al. Predictors for the progression of geographic atrophy in patients with age-related macular degeneration: fundus autofluorescence study with modified fundus camera[J]. Eye(Lond), 2014, 28(2): 209-218. DOI: 10.1038/eye.2013.275.
|
| 15. |
Souied EH, Leveziel N, Querques G, et al. Indocyanine green angiography features of malattia leventinese[J]. Br J Ophthalmol, 2006, 90(3): 296-300. DOI: 10.1136/bjo.2005.081802.
|
| 16. |
Curcio CA, Millican CL, Bailey T, et al. Accumulation of cholesterol with age in human Bruch’s membrane[J].Invest Ophthalmol Vis Sci, 2001, 42(1): 265-274.
|
| 17. |
Li CM, Clark ME, Rudolf M, et al. Distribution and composition of esterified and unesterified cholesterol in extra-macular drusen[J]. Exp Eye Res, 2007, 85(2): 192-201. DOI: 10.1016/j.exer.2007.04.002.
|
| 18. |
Souied EH, Leveziel N, Letien V, et al. Optical coherent tomography features of malattia leventinese[J]. Am J Ophthalmol, 2006, 141(2): 404-407. DOI: 10.1016/j.ajo.2005.09.001.
|
| 19. |
Fu L, Garland D, Yang Z, et al. The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice[J]. Hum Mol Genet, 2007, 16(20): 2411-2422. DOI: 10.1093/hmg/ddm198.
|
| 20. |
Ruggiano A, Foresti O, Carvalho P. Quality control: ER-associated degradation: protein quality control and beyond[J]. J Cell Biol, 2014, 204(6): 869-879. DOI: 10.1083/jcb.201312042.
|
| 21. |
Serra R, Coscas F, Messaoudi N, et al. Choroidal neovascularization in malattia leventinese diagnosed using optical coherence tomography angiography[J]. Am J Ophthalmol, 2017, 176(4): 108-117. DOI: 10.1016/j.ajo.2016.12.027.
|
