Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons

The retinitis pigmentosa GTPase regulator (RPGR) and nephrocystin-4 (NPHP4) comprise two key partners of the assembly complex of the RPGR-interacting protein 1 (RPGRIP1). Mutations in RPGR and NPHP4 are linked to severe multisystemic diseases with strong retinal involvement of photoreceptor neurons,...

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Detalles Bibliográficos
Autores principales: Patil, H, Tserentsoodol, N, Saha, A, Hao, Y, Webb, M, Ferreira, P A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2012
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3406595/
https://www.ncbi.nlm.nih.gov/pubmed/22825473
http://dx.doi.org/10.1038/cddis.2012.96

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3406595/
https://www.ncbi.nlm.nih.gov/pubmed/22825473
http://dx.doi.org/10.1038/cddis.2012.96

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