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Hemant Khanna, PhD


Kollu N. Rao, Manisha Anand and Hemant Khanna. The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo. Biology Open (2016) 0, 1-5 doi:10.1242/bio.016816. View

Kollu N. Rao1, Wei Zhang1, Linjing Li1, Cecinio Ronquillo2, Wolfgang Baehr2 and Hemant Khanna. Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR  Human Molecular Genetics, 2016, 1–8 doi: 10.1093/hmg/ddw075. View

Kollu N. Rao1, Linjing Li1, Wei Zhang1, Richard S. Brush2, Raju V.S. Rajala2 and Hemant Khanna. Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina Human Molecular Genetics, 2016, Vol. 25, No. 7 doi: 10.1093/hmg/ddw017. View


Khanna, H. Photoreceptor Sensory Cilium: Traversing the Ciliary Gate. (Review) Cells, 2015. View

Li, L., Rao, K.N., Zheng-Le, Y., Hurd, T.W., Lillo, C., and Khanna, H. Loss of Retinitis Pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice. Cytoskeleton, 2015 (In press, accepted September 15, 2015)

Mookherjee, S., Hiriyanna, S., Kaneshiro, K., Li, L., Li, Y., Li, W., Qian, H., Li, T., Khanna, H., Colosi, P., Swaroop, A., and Wu, Z. Long-Term Rescue of Cone Photoreceptor Degeneration in Retinitis Pigmentosa 2 (RP2) Knockout Mice by Gene Replacement Therapy. , 2015 (doi: 10.1093/hmg/ddv354) View

Rao K. N., Li L., Anand M., Khanna, H. Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition. Sci Rep. 2015 Jun 11;5:11137. doi: 10.1038/srep11137 View

Li, L., Anand, M., Rao, K. N., & Khanna, H. Cilia in photoreceptors. Methods Cell Biol. 2015;127:75-92 In R. Basto & W. F. Marshall (Eds.), Methods in Cilia & Flagella (pp. 75–92). View

Rao, K.N. And Khanna, H. (2015). Role of small GTPases in polarized vesicle transport to primary cilium . Res Rep Biol, 2015;6:17-24.


Subramanian B, Anand M, Khan N, Khanna H. Loss of Raf-1 Kinase Inhibitory Protein (RKIP) delays early-onset severe retinal ciliopathy in Cep290rd16 mouse. Invest Ophthalmol Vis Sci. 2014; 55(9):5788-94. View


Li L, Khan N, Hurd T, Ghosh AK, Cheng C, Molday R, Heckenlively JR, Swaroop A, Khanna H. Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration. Invest Ophthalmol Vis Sci 2013;54(7):4503-11. View


Khanna H, Baehr W. Retina ciliopathies: From genes to mechanisms and treatment. Vision Res. 2012 Dec 15; 75:1.​ View

Yildiz O, Khanna H. Ciliary signaling cascades in photoreceptors. Vision Res. 2012 Aug 17. View

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. View

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. View

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. View

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. View

Beltran WA, Cideciyan AV, Lewin AS, Iwabe S, Khanna H, Sumaroka A, Chiodo VA, Fajardo DS, Román AJ, Deng WT, Swider M, Alemán TS, Boye SL, Genini S, Swaroop A, Hauswirth WW, Jacobson SG, Aguirre GD. Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa. Proc Natl Acad Sci U S A. 2012 Feb 7; 109(6):2132-7. View

Hemant Khanna, Wolfgang Baehr. Retina Ciliopathies: From genes to mechanisms and treatment. Vision Research. 2012; 1.


Bian ZM, Elner SG, Khanna H, Murga-Zamalloa CA, Patil S, Elner VM. Expression and functional roles of caspase-5 in inflammatory responses of human retinal pigment epithelial cells. Invest Ophthalmol Vis Sci. 2011 Nov; 52(12):8646-56. View

Patil SB, Hurd TW, Ghosh AK, Murga-Zamalloa CA, Khanna H. Functional Analysis of Retinitis Pigmentosa 2 (RP2) Protein Reveals Variable Pathogenic Potential of Disease-Associated MissenseVariants. PLoS One. 2011; 6(6):e21379. View

Murga-Zamalloa CA, Ghosh AK, Patil SB, Reed NA, Chan LS, Davuluri S, Peränen J, Hurd TW, Rachel RA, Khanna H. Accumulation of the Raf-1 Kinase Inhibitory Protein (Rkip) Is Associated with Cep290-mediated Photoreceptor Degeneration in Ciliopathies. J Biol Chem. 2011 Aug 12; 286(32):28276-86. View

Yao J, Feathers KL, Khanna H, Thompson D, Tsilfidis C, Hauswirth WW, Heckenlively JR, Swaroop A, Zacks DN. XIAP Therapy Increases Survival of Transplanted Rod Precursors in a Degenerating Host Retina.Invest Ophthalmol Vis Sci. 2011; 52(3):1567-72. View

Chakarova CF, Khanna H, Shah AZ, Patil SB, Sedmak T, Murga-Zamalloa CA, Papaioannou MG, Nagel-Wolfrum K, Lopez I, Munro P, Cheetham M, Koenekoop RK, Rios RM, Matter K, Wolfrum U, Swaroop A,Bhattacharya SS. TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein. Hum MolGenet. 2011 Mar 1; 20(5):975-87. View


Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, van Reeuwijk J, Letteboer SJ, Sang L, Giles RH, Liu Q, Coene KL, Estrada-Cuzcano A, Collin RW, McLaughlin HM, Held S, Kasanuki JM, Ramaswami G, Conte J, Lopez I, Washburn J, Macdonald J, Hu J, Yamashita Y, Maher ER, Guay-Woodford LM, Neumann HP, Obermüller N, Koenekoop RK, Bergmann C, Bei X, Lewis RA, Katsanis N, Lopes V, Williams DS, Lyons RH, Dang CV, Brito DA, Dias MB, Zhang X, Cavalcoli JD, Nürnberg G, Nürnberg P, Pierce EA, Jackson PK, Antignac C, Saunier S, Roepman R, Dollfus H, Khanna H, Hildebrandt F. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet. 2010 Oct; 42(10):840-50. View

Patil SB, Verma R, Venkatareddy M, Khanna H. Expression and localization of the ciliary disease protein retinitis pigmentosa GTPase regulator in mammalian kidney. Kidney Int. 2010 Sep; 78(6):622-3. View

Hurd T, Zhou W, Jenkins P, Liu CJ, Swaroop A, Khanna H, Martens J, Hildebrandt F, Margolis B. The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development. Hum Mol Genet. 2010 Nov 15; 19(22):4330-44. View

Murga-Zamalloa CA, Desai NJ, Hildebrandt F, Khanna H. Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas. Mol Vis. 2010; 16:1373-81. View

Murga-Zamalloa CA, Atkins SJ, Peranen J, Swaroop A, Khanna H. Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration. Hum Mol Genet. 2010 Sep 15; 19(18):3591-8. View

Jayasundera T, Branham KE, Othman M, Rhoades WR, Karoukis AJ, Khanna H, Swaroop A, Heckenlively JR. RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa. Arch Ophthalmol. 2010 Jul; 128(7):915-23. View

Dr. Hemant Khanna from the Khanna Lab (Horae Gene Therapy Center) is conducting research and developing therapeutic strategies for rare inherited diseases such as the Ciliopathies.

Hemant Khanna, PhD


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