Publications

PUBMED

    1. Khanna H, Baehr W. Retina ciliopathies: From genes to mechanisms and treatment. Vision Res. 2012 Dec 15; 75:1PubMed
    2. Yildiz O, Khanna H. Ciliary signaling cascades in photoreceptors. Vision Res. 2012 Aug 17. PubMed
    3. Anand M, Khanna H. Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases. Expert Opin Ther Targets. 2012 May 7. PubMed
    4. Thompson DA, Khan NW, Othman MI, Chang B, Jia L, Grahek G, Wu Z, Hiriyanna S, Nellissery J, Li T, Khanna H, Colosi P, Swaroop A, Heckenlively JR. Rd9 Is a Naturally Occurring Mouse Model of a Common Form of Retinitis Pigmentosa Caused by Mutations in RPGR-ORF15. PLoS One. 2012; 7(5):e35865. PubMed 
    5.  Luo N, West C, Murga-Zamalloa C, Sun L, Anderson RM, Wells C, Weinreb RN, Travers JB, Khanna H, Sun Y. OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome. Hum Mol Genet. 2012 Apr 27. PubMed
    6. Rachel RA, May-Simera HL, Veleri S, Gotoh N, Choi BY, Murga-Zamalloa C, McIntyre JC, Marek J, Lopez I, Hackett AN, Brooks M, den Hollander AI, Beales PL, Li T, Jacobson SG, Sood R, Martens JR, Liu P, Friedman TB, Khanna H, Koenekoop RK, Kelley MW, Swaroop A. Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. J Clin Invest. 2012 Apr 2; 122(4):1233-45. PubMed
    7. Beltran,AA,Cideciyan,AV,Lewin,AS,Iwabe,S,Khanna,H,Sumaroka,a, Chiodo, VA, Fajardo, DS, Roman, AJ, Deng, W-T, Swider, M, Aleman, TS, Boye, SL, Genini, S, Swaroop, A, Hauswirth, WW, Jacobson, SG, and Aguirre, GD. Gene therapy rescues photoreceptor blindness in dogs and paves way for treating human X-linked retinitis pigmentosa. Proc Natl Acad Sci, 109 (6) 2132-2137. 2012. PubMed
    8. Murga-Zamalloa,C.A.,Ghosh,A.K.,Patil,S.B.,Reed,N.A.,Chan,L.S., Davuluri, S., Peranen, J., Hurd, T.W., Rachel, R.A., and Khanna, H. Accumulation of the Raf-1 Kinase Inhibitory Protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies. (2011) J Biol Chem 286: 28276-86. PubMed
    9. Patil, S.B., Hurd, T.W., Ghosh, A.K., Murga-Zamalloa, C.A., and Khanna, H. Functional analysis of Retinitis Pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants. PLoS One, (2011), 6: e21379. PubMed
    10. Murga-Zamalloa,C.A.,Atkins,S.J.,Peranen,J.,Swaroop,A.,and Khanna, H. Interaction of Retinitis Pigmentosa GTPase Regulator (RPGR) with RAB8A GTPase: Implications for cilia dysfunction and photoreceptor degeneration. Hum Mol Genet, (2010) 19: 3591-8 PubMed
    11. Murga-Zamalloa, C.A., Desai, N.J., Hildebrandt, F., and Khanna, H. Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas. Mol Vis. (2010) 16:1373-81. PubMed
    12. Otto E.A., Hurd T.W., Airik R., Chaki M., Zhou W., Stoetzel C., Patil S.B.......Khanna H., and Hildebrandt, F. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 42: 840-50 PubMed
    13. Ghosh,A.K.,Murga-Zamalloa,C.,Chan,L.,Hitchcock,P.F.,Swaroop,A., and Khanna, H. Human retinopathy-associated ciliary protein Retinitis Pigmentosa GTPase Regulator mediates cilia-dependent vertebrate development. Hum. Mol. Genet. (2010) 19: 90-98 (published on the cover). PubMed
    14. Patil, S.B., Verma, R., Venkatareddy, M., and Khanna, H. Expression and localization of the ciliary disease protein retinitis pigmentosa GTPase regulator in mammalian kidney. Kidney Intl. (2010) 78(6): 622-3 PubMed
    15. Murga-Zamalloa, C., Swaroop, A., and Khanna, H. RPGR-containing Protein Complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction. J. Gen. (2009), 88: 399-407 PubMed
    16. Khanna, H., Davis, E.A., Murga-Zamalloa, C.A., Estrada, A., et al., A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat. Genet. (2009) 41, 739-45 PubMed
    17. He, S., Parapuram, S.K., Hurd, T.W., Behnam, B., Margolis, B., Swaroop, A., and Khanna, H. Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies. Vis Res. (2008) 48: 366-76 PubMed
    18. Tsang, W.Y., Bossard, C., Khanna, H., Peranen, J., Swaroop, A., Malhotra, V., and Dynlacht, B.D. CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease. Dev Cell (2008) 15(2):187-97. PubMed
    19. Cideciyan, A.V., Aleman, T.S., Jacobson, S.G., Khanna, H., Sumaroka, A., et al., Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis. Hum. Mut. (2007) 28: 1074-83. PubMed
    20. Chang, B.*, Khanna, H.*, Hawes, N., Lillo, C., He, S.,...,et al., In-frame deletion in the novel centrosomal protein CEP290/NPHP6 alters its interaction with RPGR and leads to early-onset retinal degeneration. Hum. Mol. Genet. (2006) 15: 1847-57 (* Equally contributing authors). PubMed
    21. Khanna, H, Hurd, T.W., Lillo, C., Shu, X., Parapuram S.K., He S., Akimoto M., Wright A.F., Margolis B., Williams D.S., Swaroop A. RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins. J Biol Chem. (2005) 280: 33580-7. PubMed
    22. Otto E.A., Loeys B., Khanna H., et al., Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet. (2005) 37: 282-88, 2005.PubMed