H. Khanna

发表

RPGR-ORF15, Which Is Mutated in Retinitis Pigmentosa, Associates with SMC1, SMC3, and Microtubule Transport Proteins*

A. Swaroop, A. Wright, H. Khanna, 2005, Journal of Biological Chemistry.

Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors.

Hemant Khanna, Anand Swaroop, A. Swaroop, 2004, Human molecular genetics.

Loss of Raf-1 kinase inhibitory protein delays early-onset severe retinal ciliopathy in Cep290rd16 mouse.

H. Khanna, N. Khan, Balajikarthick Subramanian, 2014, Investigative ophthalmology & visual science.

Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis

H. Khanna, G. Gao, Q. Su, 2018, Human gene therapy.

Role of small GTPases in polarized vesicle transport to primary cilium

H. Khanna, K. N. Rao, 2015 .

OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome

Ryan M. Anderson, H. Khanna, R. Weinreb, 2012, Human molecular genetics.

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

S. Levy, C. Dang, R. Lewis, 2010, Nature Genetics.

Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular RPE Atrophy

Amna Z. Shah, C. Ponting, E. Zrenner, 2018 .

XIAP therapy increases survival of transplanted rod precursors in a degenerating host retina.

W. Hauswirth, A. Swaroop, H. Khanna, 2011, Investigative ophthalmology & visual science.

Oxidative Stress Resistance 1 Gene Therapy Retards Neurodegeneration in the rd1 Mutant Mouse Model of Retinopathy

H. Khanna, Bhubanananda Sahu, M. Volkert, 2021, Investigative ophthalmology & visual science.

Widespread expression of the Supv3L1 mitochondrial RNA helicase in the mouse

H. Khanna, J. Sedivy, J. Klysik, 2009, Transgenic Research.

Stem cells with a view: a look inside a retinal ciliopathy.

H. Khanna, Linjing Li, 2016, Stem cell investigation.

FGF19 exhibits neuroprotective effects on adult mammalian photoreceptors in vitro.

A. Swaroop, H. Khanna, D. Hicks, 2008, Investigative ophthalmology & visual science.

Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome

H. Khanna, A. Guerin, M. A. Quezada-Ramírez, 2022, Frontiers in Genetics.

Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice

H. Khanna, T. Hurd, C. Lillo, 2015, Cytoskeleton.

Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL

E. Strettoi, A. Swaroop, H. Khanna, 2007, Proceedings of the National Academy of Sciences.

Retinoic Acid Regulates the Expression of Photoreceptor Transcription Factor NRL*

A. Swaroop, H. Khanna, M. Akimoto, 2006, Journal of Biological Chemistry.

The Minimal Transactivation Domain of the Basic Motif-Leucine Zipper Transcription Factor NRL Interacts with TATA-binding Protein*

A. Swaroop, P. Swain, H. Khanna, 2004, Journal of Biological Chemistry.

transcriptional activator in rod photoreceptors

A. Swaroop, H. Khanna, Edwin C. T. Oh, 2004 .

Biobased Lactams as Novel Arthropod Repellents

H. Khanna, J. Grieco, K. Chauhan, 2014, Natural product communications.

Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma

Sonika C. Rathi, H. Khanna, R. Khanna, 2017, Human Genetics.

Advances in Gene Therapy for Diseases of the Eye

H. Khanna, C. Punzo, L. Petit, 2016, Human gene therapy.

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

R. Reinhardt, J. Hellemans, A. Swaroop, 2005, Nature Genetics.

CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease.

V. Malhotra, A. Swaroop, H. Khanna, 2008, Developmental cell.

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.

A. Swaroop, H. Khanna, C. Lillo, 2006, Human molecular genetics.

CSPP Is a Ciliary Protein Interacting with Nephrocystin 8 and Required for Cilia Formation

T. Stokke, H. Khanna, S. Redick, 2010, Molecular biology of the cell.

Molecular Assessment of Epiretinal Membrane: Activated Microglia, Oxidative Stress and Inflammation

H. Khanna, R. Pappuru, J. Chhablani, 2020, Antioxidants.

Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration

A. Swaroop, H. Khanna, S. Atkins, 2010, Human molecular genetics.

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.

Amna Z. Shah, C. Ponting, A. Swaroop, 2007, American journal of human genetics.

Long-term follow-up of a family with dominant X-linked retinitis pigmentosa

P. Sieving, A. Swaroop, H. Khanna, 2010, Eye.

RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP)

E. L. West, A. Cideciyan, S. Jacobson, 2020, Human molecular genetics.

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.

A. J. Roman, A. Cideciyan, S. Schwartz, 2016, Human molecular genetics.

Rd9 Is a Naturally Occurring Mouse Model of a Common Form of Retinitis Pigmentosa Caused by Mutations in RPGR-ORF15

A. Swaroop, Tiansen Li, H. Khanna, 2012, PloS one.

RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction

A. Swaroop, H. Khanna, C. Murga-Zamalloa, 2009, Journal of Genetics.

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.

S. Jacobson, A. D. den Hollander, A. Swaroop, 2012, The Journal of clinical investigation.

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Colin A. Johnson, Michael A. Beer, R. Gibbs, 2009, Nature Genetics.

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

Yan Liu, Michael A Kennedy, Hemant Khanna, 2006, Nature Genetics.

RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.

A. Swaroop, H. Khanna, M. Othman, 2010, Archives of ophthalmology.

Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development.

A. Swaroop, H. Khanna, A. Ghosh, 2010, Human molecular genetics.

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

Amna Z. Shah, A. Swaroop, U. Wolfrum, 2011, Human molecular genetics.

RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin.

A. Swaroop, U. Wolfrum, A. Lennon, 2005, Human molecular genetics.

Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).

A. Swaroop, H. Khanna, C. Murga-Zamalloa, 2010, Advances in experimental medicine and biology.

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa

Hemant Khanna, Alexander Sumaroka, Artur V. Cideciyan, 2012, Proceedings of the National Academy of Sciences.

Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.

Cecinio C. Ronquillo, H. Khanna, W. Baehr, 2016, Human molecular genetics.

Photoreceptor Sensory Cilium: Traversing the Ciliary Gate

H. Khanna, 2015, Cells.

Expression and functional roles of caspase-5 in inflammatory responses of human retinal pigment epithelial cells.

H. Khanna, S. Patil, Z. Bian, 2011, Investigative ophthalmology & visual science.

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF 15-associated retinal degeneration

A. J. Roman, A. Cideciyan, S. Schwartz, 2018 .

More Than Meets the Eye: Current Understanding of RPGR Function.

H. Khanna, 2018, Advances in experimental medicine and biology.

Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina.

H. Khanna, R. Brush, R. V. Rajala, 2016, Human molecular genetics.

Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: Insights into X-linked Retinitis Pigmentosa and associated ciliopathies

Hemant Khanna, Anand Swaroop, A. Swaroop, 2008, Vision Research.

RP 2 Phenotype and Pathogenetic Correlations in X-Linked Retinitis Pigmentosa

A. Swaroop, H. Khanna, M. Othman, 2010 .

Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration.

A. Swaroop, H. Khanna, T. Hurd, 2013, Investigative ophthalmology & visual science.

Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy.

Wei Li, A. Swaroop, Tiansen Li, 2015, Human molecular genetics.

Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor.

A. Swaroop, P. Swain, H. Khanna, 2003, Human molecular genetics.

The Ocular Gene Delivery Landscape

H. Khanna, Bhubanananda Sahu, Isha Chug, 2021, Biomolecules.

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.

Bethan E. Hoskins, D. Seelow, H. Prokisch, 2010, The Journal of clinical investigation.

Developing Gene Therapy for CEP290-Associated Retinal Ciliopathies

H. Khanna, 2018, Cell and Gene Therapy Insights.

Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases

H. Khanna, Manisha Anand, 2012, Expert opinion on therapeutic targets.

Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E.

H. Khanna, Wei Zhang, Linjing Li, 2016, Human molecular genetics.

Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons

Paul M. Jenkins, D. McEwen, A. Swaroop, 2007, Proceedings of the National Academy of Sciences.

Catalytic properties of the PepQ prolidase from Escherichia coli.

F. Raushel, H. Khanna, Yingchun Li, 2004, Archives of biochemistry and biophysics.

Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E.

H. Khanna, Wei Zhang, Linjing Li, 2016, Human molecular genetics.

Ciliary signaling cascades in photoreceptors

H. Khanna, Ozge Yildiz, 2012, Vision Research.

Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas

H. Khanna, F. Hildebrandt, C. Murga-Zamalloa, 2010, Molecular vision.

Centrosomal‐ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

T. Aleman, A. Cideciyan, S. Schwartz, 2007, Human mutation.

Toward genome editing in X-linked RP—development of a mouse model with specific treatment relevant features

B. Lorenz, H. Khanna, S. Günther, 2019, Translational research : the journal of laboratory and clinical medicine.

Accumulation of the Raf-1 Kinase Inhibitory Protein (Rkip) Is Associated with Cep290-mediated Photoreceptor Degeneration in Ciliopathies*

H. Khanna, T. Hurd, S. Patil, 2011, The Journal of Biological Chemistry.

Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models

M. Lako, A. Wright, H. Khanna, 2017, Nature Communications.

The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo

H. Khanna, K. N. Rao, Manisha Anand, 2016, Biology Open.

Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition

H. Khanna, Linjing Li, K. N. Rao, 2015, Scientific Reports.

Photoreceptor Sensory Cilium and Associated Disorders

H. Khanna, Linjing Li, Ozge Yildiz, 2012 .

Ocular Ciliopathies: genetic and mechanistic insights into developing therapies.

H. Khanna, S. Chakrabarti, Mahesh Shivanna, 2019, Current medicinal chemistry.

Expression and localization of the ciliary disease protein retinitis pigmentosa GTPase regulator in mammalian kidney.

H. Khanna, S. Patil, R. Verma, 2010, Kidney international.

The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development.

Paul M. Jenkins, A. Swaroop, J. Martens, 2010, Human molecular genetics.

Structural but Not Functional Alterations in Cones in the Absence of the Retinal Disease Protein Retinitis Pigmentosa 2 (RP2) in a Cone-Only Retina

H. Khanna, Linjing Li, K. N. Rao, 2019, Front. Genet..

RPGR Interacts With a Novel Ciliary IQ Domain Protein Nephrocystin 5, Mutated in Senior–Loken Syndrome (Nephronophthisis With Retinitis Pigmentosa)

A. Swaroop, H. Khanna, C. Lillo, 2005 .

The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo

H. Khanna, K. N. Rao, Manisha Anand, 2016, Biology Open.

Functional Analysis of Retinitis Pigmentosa 2 (RP2) Protein Reveals Variable Pathogenic Potential of Disease-Associated Missense Variants

H. Khanna, T. Hurd, A. Ghosh, 2011, PloS one.

Retina ciliopathies: From genes to mechanisms and treatment

H. Khanna, W. Baehr, 2012, Vision Research.

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy (Journal of Clinical Investigation (2010) 120, 3 (791-802) DOI: 10.1172/JCI40076)

Bethan E. Hoskins, D. Seelow, H. Prokisch, 2010 .

Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina.

H. Khanna, R. Brush, R. V. Rajala, 2016, Human molecular genetics.

Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E.

H. Khanna, Wei Zhang, Linjing Li, 2016, Human molecular genetics.

A Dominant Negative Mutant of Bacillus anthracisProtective Antigen Inhibits Anthrax Toxin Action in Vivo *

H. Khanna, Y. Singh, A. Chopra, 2001, The Journal of Biological Chemistry.

Anthrax toxin-mediated delivery of cholera toxin-A subunit into the cytosol of mammalian cells.

H. Khanna, N. Arora, Y. Singh, 2000, Biotechnology and applied biochemistry.

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.

A. J. Roman, A. Cideciyan, S. Schwartz, 2018, Human molecular genetics.

Expression and functional roles of caspase-5 in inflammatory responses of human retinal pigment epithelial cells.

H. Khanna, Z. Bian, S. Elner, 2011, Investigative ophthalmology & visual science.