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...

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Detalles Bibliográficos
Autores principales: Hulleman, John D., Kaushal, Shalesh, Balch, William E., Kelly, Jeffery W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The American Society for Cell Biology 2011
Materias:
Articles
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

Internet

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

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