0000000000056332

AUTHOR

Hemant Khanna

showing 2 related works from this author

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.

2011

et al.

Retinal degenerationUbiquitin-Protein LigasesBiologymedicine.disease_causeRetinaCell Line03 medical and health scienceschemistry.chemical_compoundMiceNuclear proteins0302 clinical medicineIntraflagellar transportGeneticsmedicineBasal bodyAnimalsHumansPhotoreceptor CellsCiliaMolecular BiologyZebrafishGenetics (clinical)Cells CulturedZebrafish030304 developmental biologyCentrosome0303 health sciencesRetinaMutationUbiquitinCiliumRetinal DegenerationNuclear ProteinsRetinalTOPORS proteinGeneral MedicineArticlesmedicine.diseasebiology.organism_classification3. Good healthCell biologyNeoplasm ProteinsProtein Transportmedicine.anatomical_structurechemistryNeoplasm proteinssense organs030217 neurology & neurosurgeryHuman molecular genetics
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RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin

2005

The ORF15 isoform of RPGR (RPGR(ORF15)) and RPGR interacting protein 1 (RPGRIP1) are mutated in a variety of retinal dystrophies but their functions are poorly understood. Here, we show that in cultured mammalian cells both RPGR(ORF15) and RPGRIP1 localize to centrioles. These localizations are resistant to the microtubule destabilizing drug nocodazole and persist throughout the cell cycle. RPGR and RPGRIP1 also co-localize at basal bodies in cells with primary cilia. The C-terminal (C2) domain of RPGR(ORF15) (ORF15(C2)) is highly conserved across 13 mammalian species, suggesting that it is a functionally important domain. Using matrix-assisted laser desorption ionization time-of-flight mas…

CentrioleFluorescent Antibody TechniqueMicechemistry.chemical_compoundChlorocebus aethiopsGuanine Nucleotide Exchange FactorsProtein IsoformsBasal bodyConserved SequenceGenetics (clinical)CentriolesGlutathione Transferaseintegumentary systemNuclear ProteinsExonsGeneral MedicineRetinitis pigmentosa GTPase regulatorImmunohistochemistryNocodazoleCOS CellsNucleophosminCell NucleolusRecombinant Fusion ProteinsMolecular Sequence DataBiologyOpen Reading FramesMicrotubuleTwo-Hybrid System TechniquesGeneticsAnimalsHumansAmino Acid SequenceEye ProteinsMolecular BiologyNucleophosminSequence Homology Amino AcidProteinsPrecipitin TestsMolecular biologyeye diseasesProtein Structure TertiaryMice Inbred C57BLCytoskeletal ProteinschemistryCentrosomeCytoplasmSpectrometry Mass Matrix-Assisted Laser Desorption-IonizationMutationCattleHeLa CellsHuman Molecular Genetics
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