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Compromised mutant EFEMP1 secretion associated with macular dystrophy remedied by proteostasis network alteration
An Arg345Trp (R345W) mutation in epidermal growth factor–containing, fibulin-like extracellular matrix protein 1 (EFEMP1) causes its inefficient secretion and the macular dystrophy malattia leventinese/Doyne honeycomb retinal dystrophy (ML/DHRD). To understand the influence of the protein homeostasi...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The American Society for Cell Biology
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237620/ https://www.ncbi.nlm.nih.gov/pubmed/22031286 http://dx.doi.org/10.1091/mbc.E11-08-0695 |