Victor Ambros has won the 2024 Nobel Prize in Physiology or Medicine!

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Selected Publications

2021

  • Sahu, B., Chug, I., and Khanna, H. The Ocular Gene Delivery Landscape. Biomolecules. 2021; 11:8.

2020

  • Moreno-Leon, L., West, E. L., O'Hara-Wright, M., Li, L., Nair, R., He, J., Anand, M., Sahu, B., Chavali, V. R. M., Smith, A. J., Ali, R. R., Jacobson, S. G., Cideciyan, A. V., and Khanna, H. RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP). Human Molecular Genetics. 2020.

  • Vishwakarma, S., Gupta, R. K., Jakati, S., Tyagi, M., Pappuru, R. R., Reddig, K., Hendricks, G., Volkert, M. R., Khanna, H., Chhablani, J., and Kaur, I. Molecular Assessment of Epiretinal Membrane: Activated Microglia, Oxidative Stress and Inflammation. Antioxidants. 2020; 9:654. 

2019

  • Shivanna, M., Anand, M., Chakrabarti, S., and Khanna H. Ocular Ciliopathies: genetic and mechanistic insights into developing therapies. Curr Med Chem. 2019; 26:3120-31.
  • Li, L., Rao, K. N., and Khanna, H. Structural but not functional alteration in cones in the absence of the retinal disease protein Retinitis Pigmentosa 2 (RP2) in a cone-only retina. Front. Genet. 2019.
  • Schlegel, J., Hoffmann, J., Röll, D., Müller, B., Günther, S., Zhang, W., Janise, A., Vössing, C., Fühler, B., Neidhardt, J., Khanna, H., Lorenz, B., and Stieger, K. Toward genome editing in X-linked RP-development of a mouse model with specific treatment relevant features. Translational Research. 2019; 203:57-72. pii: S1931-5244(18)30141-5.

2018

  • Zhang W., Li L., Su Q., Gao G., and Khanna H. Gene therapy using a miniCEP290 fragment delays photoreceptor degeneration in a mouse model of Leber congenital amaurosis (LCA). Human Gene Therapy. 2018; 29:42-50. 

2017

  • Megaw, R., Abu-Arafeh, H., Jungnickel, M., Mellough, C., Gurniak, C., Witke, W., Zhang, W., Khanna, H., Mill, P., Dhillon, B., Wright, A. F., Lako, M., and Ffrench-Constant, C. Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models. Nature Communications. 2017; 8:271.
  • Kabra, M., Zhang, W., Rathi, S., Mandal, A. K., Senthil, S., Pyatla, G., Ramappa, M., Banerjee, S., Shekhar, K., Marmamula, S., Mettla, A. L., Kaur, I., Khanna, R. C., Khanna, H., and Chakrabarti, S. Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma. Human Genetics. 2017; 136:941–949.
  • Khanna, H. Molecular Bases of Neurodegenerative Diseases of the Retina. Bentham eBooks. 2017. eISBN:978-1-68108-548-7, 2017; ISBN: 978-1-68108-549-4.

2016

  • Rao, K. N., Zhang, W., Li, L., Anand, M., and Khanna, H. Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert Syndrome-associated protein INPP5E. Human Molecular Genetics. 2016. pii: ddw281.
  • Petit, L., Khanna, H., and Punzo, C. Advances in Gene Therapy for Diseases of the Eye. Human Gene Therapy. doi:10.1089/hum.2016.040.
  • Rao, K. N., Anand, M., and Khanna, H. The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo. Biology Open. 2016; 5:424-28. doi:10.1242/bio.016816.
  • Rao, K. N., Zhang, W., Li, L., Ronquillo, C., Baehr, W., and Khanna, H.Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR. Human Molecular Genetics. 2016; 25:2005-12. doi: 10.1093/hmg/ddw075.
  • Rao, K. N., Li, L., Zhang, W., Brush, R. S., Rajala, R. V. S., and Khanna, H. Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina. Human Molecular Genetics. 2016; 25:1345-56. doi: 10.1093/hmg/ddw017.

2015

  • Khanna, H. Photoreceptor Sensory Cilium: Traversing the Ciliary Gate. Cells. 2015; 4:674-86. 
  • 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; 72:447-54.
  • 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. Human Molecular Genetics. 2015; 24:6446-58.
  • Rao, K. N., Li, L., Anand, M., and Khanna, H. Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition. Scientific Reports. 2015; 5:11137. doi: 10.1038/srep11137.

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