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Keywords: RPGR
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Journal Articles
Journal:
Biology Open
Biol Open (2016) 5 (4): 424–428.
Published: 3 March 2016
...Kollu N. Rao; Manisha Anand; Hemant Khanna ABSTRACT 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...
Journal Articles
Hemangi Patil, Mallikarjuna R. Guruju, Kyoung-in Cho, Haiqing Yi, Andrew Orry, Hyesung Kim, Paulo A. Ferreira
Journal:
Biology Open
Biol Open (2012) 1 (2): 140–160.
Published: 30 December 2011
... pigmentosa GTPase regulator (RPGR) through a domain homologous to RCC1 (RHD), a nucleotide exchange factor of Ran GTPase. However, functional relationships between RPGR and RPGRIP1 and their subcellular roles are lacking. We show by molecular modeling and analyses of RPGR disease-mutations that the RPGR...
Includes: Multimedia, Supplementary data