REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking

Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy. We recently identified mutations in REEP6, which encodes the receptor expression enhancing protein 6, in several families with autosomal recessive RP. REEP6 is related to the REEP and Yop1p family of ER shaping protein...

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Detalles Bibliográficos
Autores principales: Agrawal, Smriti A., Burgoyne, Thomas, Eblimit, Aiden, Bellingham, James, Parfitt, David A., Lane, Amelia, Nichols, Ralph, Asomugha, Chinwe, Hayes, Matthew J., Munro, Peter M., Xu, Mingchu, Wang, Keqing, Futter, Clare E., Li, Yumei, Chen, Rui, Cheetham, Michael E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808736/
https://www.ncbi.nlm.nih.gov/pubmed/28475715
http://dx.doi.org/10.1093/hmg/ddx149

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