Hemant Khanna, PhD

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

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

• Ocular Ciliopathies: Genetic and Mechanistic Insights into Developing Therapies.

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

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

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

• Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma.

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

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

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

• Advances in Gene Therapy for Diseases of the Eye.

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

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

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

• Photoreceptor Sensory Cilium: Traversing the Ciliary Gate.

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

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

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

• Cilia in photoreceptors.

• Biobased lactams as novel arthropod repellents.

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

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

• Retina ciliopathies: from genes to mechanisms and treatment.

• Ciliary signaling cascades in photoreceptors.

• Tackling Primary Cilia Dysfunction in Photoreceptor Degenerative Diseases of the Eye.

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

• Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15.

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

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

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

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

• Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants.

• Accumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies.

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

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

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

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

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

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

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

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

• CSPP is a ciliary protein interacting with Nephrocystin 8 and required for cilia formation.

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

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

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

• Widespread expression of the Supv3L1 mitochondrial RNA helicase in the mouse.

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

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

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

• FGF19 exhibits neuroprotective effects on adult mammalian photoreceptors in vitro.

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

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

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

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

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

• Retinoic acid regulates the expression of photoreceptor transcription factor NRL.

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

• 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.

• RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins.

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

• The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein.

• Catalytic properties of the PepQ prolidase from Escherichia coli.

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

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