The carboxyl terminal mutational hotspot of the ciliary disease protein RPGR(ORF15) (retinitis pigmentosa GTPase regulator) is glutamylated in vivo
Mutations in RPGR(ORF15) (retinitis pigmentosa GTPase regulator) are a major cause of inherited retinal degenerative diseases. RPGR(ORF15) (1152 residues) is a ciliary protein involved in regulating the composition and function of photoreceptor cilia. The mutational hotspot in RPGR(ORF15) is an unus...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Company of Biologists Ltd
2016
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4890669/ https://www.ncbi.nlm.nih.gov/pubmed/26941104 http://dx.doi.org/10.1242/bio.016816 |