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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...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Biol Open
Prif Awduron: Rao, Kollu N., Anand, Manisha, Khanna, Hemant
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The Company of Biologists Ltd 2016
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4890669/
https://ncbi.nlm.nih.gov/pubmed/26941104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/bio.016816
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