Focus on molecules: fibulin-3 (EFEMP1)
- PMID: 19799900
- PMCID: PMC2896546
- DOI: 10.1016/j.exer.2009.09.018
Focus on molecules: fibulin-3 (EFEMP1)
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References
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- McLaughlin PJ, Bakall B, Choi J, Liu Z, Sasaki T, Davis EC, Marmorstein AD, Marmorstein LY. Lack of fibulin-3 causes early aging and herniation, but not macular degeneration in mice. Hum. Mol. Genet. 2007;16:3059–3070. - PubMed
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- Stone EM, Lotery AJ, Munier FL, Heon E, Piguet B, Guymer RH, Vandenburgh K, Cousin P, Nishimura D, Swiderski RE, Silvestri G, Mackey DA, Hageman GS, Bird AC, Sheffield VC, Schorderet DF. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet. 1999;22:199–202. - PubMed
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- Fu L, Garland D, Yang Z, Shukla D, Rajendran A, Pearson E, Stone EM, Zhang K, Pierce EA. The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. Hum. Mol. Genet. 2007;16:2411–2422. - PubMed
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- Marmorstein LY, McLaughlin PJ, Peachey NS, Sasaki T, Marmorstein AD. 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. Hum. Mol. Genet. 2007;16:2423–2432. - PubMed
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