Hemant Khanna, PhD
Department of Ophthalmology
University of Massachusetts Medical School
381 Plantation St
Biotech 5, Suite 250
Worcester, MA 01605
My lab focuses on understanding the molecular mechanisms underlying the pathogenesis and progression of severe neurodegenerative diseases of the retina.. Specifically, we are interested in diseases that are caused by defects in the transport of proteins from one end of our light sensing neurons called photoreceptors, to the other end. We utilize multiple animal models (mice and zebrafish) to study such diseases and also to utilize them as platform to design treatment modalities.
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.
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
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.
Yao J., Feathers K., Khanna H., Thompson D., Tsilfidis C., Hauswirth W.W., Heckenlively J.R., Swaroop A., Zacks D.N. XIAP Therapy Increases Survival of Transplanted Rod Precursors in a Degenerating Host Retina. Invest Ophthalmol Vis Sci (2010) In Press
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
Ghosh, A.K., Murga-Zamalloa, C., Chan, L., Hitchcock, P.F., Swaroop, A., and Khanna, H. Human retinopathy-associated protein Retinitis Pigmentosa GTPase Regulator (RPGR) regulates cilia-mediated vertebrate development. Hum. Mol. Genet. (2010) 19: 90-98 (published on the cover).
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
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