Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-Related Macular Degeneration and Potential Therapies
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Publisher
Springer International Publishing
Link
http://link.springer.com/content/pdf/10.1007/978-3-319-17121-0_21
Reference27 articles.
1. Fu L, Garland D, Yang Z et al (2007) The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. Hum Mol Genet 16:2411–2422
2. Garland DL, Fernandez-Godino R, Kaur I et al (2014) Mouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration. Hum Mol Genet 23:52–68
3. Hulleman JD, Kelly JW (2015) Genetic ablation of N-linked glycosylation reveals two key folding pathways for R345W fibulin-3, a secreted protein associated with retinal degeneration. FASEB J 29:565–575
4. Hulleman JD, Kaushal S, Balch WE et al (2011) Compromised mutant EFEMP1 secretion associated with macular dystrophy remedied by proteostasis network alteration. Mol Biol Cell 22:4765–4775
5. Hulleman JD, Balch WE, Kelly JW (2012) Translational attenuation differentially alters the fate of disease-associated fibulin proteins. FASEB J 26:4548–4560
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