Publications
2021 – 2025
Seddon J.M., De D., Casazza W., Cheng S.Y., Caiazzi J., Punzo C., Daly M., Zhou D., Coss S.L., Atkinson J.P., Yu C.Y.(2024). Risk and protection of different rare protein-coding variants of complement component C4A in age-related macular degeneration. Frontiers in Genetics: 14:1274743. PDF
Cheng S.Y., Caiazzi J., Biscans A., Alterman J.F., Echeverria D., McHugh N., Hassler M., Jolly S., Giguere D., Cipi J., Khvorova A., Punzo C. (2023). Single intravitreal administration of a tetravalent siRNA exhibits robust and efficient gene silencing in mouse and pig photoreceptors. Molecular Therapy: Nucleic Acids: 35 (March 2024). PDF
Schultz A., Cheng S.Y., Kirchner E., Costello S., Miettinen H., Chaverra M., King C., George L., Zhao X., Narasimhan J., Weetall M., Slaugenhaupt S., Morini E., Punzo C., Lefcort F. (2023). Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators. Scientific Reports: 13:18600. PDF
Cheng S.Y., Punzo C. (2022). Update on Viral Gene Therapy Trials for Retinal Diseases. Human Gene Therapy: 33 (17-18): 865-878. PDF Supplemental Table
Huan T., Cheng S.Y., Tian B., Punzo C., Lin H., Daly M., Seddon J.M. (2022). Identifying Novel Genes and Variants in Immune and Coagulation Pathways Associated with Macular Degeneration. Ophthalmology Science: 3 (1):100206. PDF
Wang Y., Punzo C., Ash J.D., Lobanova E.S. (2022). Tsc2 knockout counteracts ubiquitin-proteasome system insufficiency and delays photoreceptor loss in retinitis pigmentosa. PNAS: 119 (11): 2118479119. PDF
Cheng S.Y., Punzo C. (2021). Ocular Inflammation with Anti-Vascular Endothelial growth Factor Treatments. Human Gene Therapy: 32 (13-14): 639-641. PDF
Cheng S.Y., Luo Y., Malachi A., Ko J., Su Q., Xie J., Tian B., Lin H., Ke X., Zheng Q., Tai P.L.W., Gao G., Punzo C. (2021). Low-Dose Recombinant Adeno-Associated Virus-Mediated Inhibition of Vascular Endothelial Growth Factor Can Treat Neovascular Pathologies Without Inducing Retinal Vasculitis. Human Gene Therapy: 32 (13-14): 649-666. PDF
Cheng S.Y., Malachi A., Cipi J., Ma S., Brush R.S., Agbaga M.P., Punzo C. (2021). HK2 mediated glycolytic metabolism in mouse photoreceptors is not required to cause late stage age-related macular degeneration-like pathologies. Biomolecules: 2021, 11, 871. PDF
2016 – 2020
Cheng S.Y., Cipi J., Ma S., Hafler B., Kanadia R.N., Brush R.S., Agbaga M.P., Punzo C. (2020). Altered photoreceptor metabolism in mouse causes late stage age-related macular degeneration-like pathologies. PNAS: 117 (23):13094-13104. PDF
Li H., Li Q., Dang K., Ma S., Cotton J.L., Yang S., Zhu L.J., Deng A.C., Ip Y.T., Johnson R.L. Wu X., Punzo C., Mao J. (2019). YAP/TAZ activation drives uveal melanoma initiation and progression. Cell Reports: 29: 3200-3211. PDF
Punzo C. Gene Therapy in animal models. Book Chapter: Genetic and Genomics of Eye Disease. Elsevier. ISBN: 978012816222-4. Published: 09/13/2019 (pp297-311).
Petit L., Ma S., Cipi J., Cheng S.Y., Zieger M., Hay N., Punzo C. (2018). Aerobic glycolysis is essential for normal rod function and control secondary cone death in retinitis pigmentosa. Cell Reports: 23: 2629-2642. PDF
Vemkatesh A., Cheng S.Y., Punzo C. (2017). Loss of the cone-enriched caspase-7 does not affect secondary cone death in retinitis pigmentosa. Molecular Vision: 23: 944-951. PDF
Petit L., Ma S., Cheng S.Y., Gao Guangping., Punzo C. (2017). Rod Outer Segment Development Influences AAV-Mediated Photoreceptor Transduction After Subretinal Injection. Human Gene Therapy: 28 (6): 464-481. PDF
Petit L. & Punzo C. (2016). Gene Therapy Approaches for the Treatment of Retinal Disorders. Discovery Medicine: 22 (121): 221-229. PDF
Camacho E.T., Punzo C., Wirkus S.A. (2016). Quantifying the metabolic contribution to photoreceptor death in retinitis pigmentosa via a mathematical model. Journal of Theoretical Biology: 408: 75-87. PDF
Venkatesh A., Ma S., Punzo C. (2016). TSC but not PTEN loss in starving cones of retinitis pigmentosa mice leads to an autophagy defect and mTORC1 dissociation from the lysosome. Cell Death & Disease: 7 (6): e2279. PDF
Petit L., Khanna H., Punzo C. (2016). Advances in gene Therapy for Diseases of the Eye. Human Gene Therapy: 27 (8): 563-579. PDF
Choudhury S.R., Fitzpatrick Z., Harris A.F., Maitland S.A., Ferreira J.F., Zhang Y., Ma S., Sharma R.B., Gray-Edwards H.L., Johnson J.A., Johnson A.K., Alonso L.C., Punzo C., Wagner K.R., Maguire C.A., Kotin R.M., Martin D.R., Sena-Esteves M. (2016). In vivo selection yields AAV-B1 capsid for central nervous system and muscle gene therapy. Moleculae Therapy: 24 (7): 1247-57. PDF
Zieger M. & Punzo C. (2016). Improved cell metabolism prolongs photoreceptor survival upon retinal-pigmented epithelium loss in the sodium iodate induced model of geographic atrophy. Oncotarget: 7 (9): 9620-9633. PDF
2011 –2015
Petit L. & Punzo C. (2015). mTORC1 sustains vision in retinitis pigmentosa. Oncotarget: 6 (17): 16786-16787. PDF
Cepko C.L. & Punzo C. (2015). Sugar for sight. Nature: 522: 428-429. PDF
Ma S., Venkatesh A., Langellotto F., Le Y. Z., Hall M. N., Ruegg M. A., Punzo C. (2015). Loss of mTOR signaling affects cone function, cone structure and expression of cone specific proteins without affecting cone survival. Experimental Eye Research: 135: 1-13. PDF
Venkatesh A., Ma S., Le Y. Z., Hall M. N., Ruegg M. A., Punzo C. (2015). Activated mTORC1 promotes long-term cone survival in retinitis pigmentosa mice. J of Clinc. Inves.: 125 (4): 1446-1458. PDF
Banday A.R., Baumgartner M., Seesi S.A., Rriya Karunakaran D.K., Venkatesh A.,Congdon S., Lemoine C., Kilcollins A.M., Mandoiu I., Punzo C., Kanadia R.N. (2014) Replication-dependent histone genes are actively transcribed in differentiating and aging retinal neurons. Cell Cycle: 13 (16): 2526-2541. PDF
Venkatesh A., Ma S., Langellotto F., Gao G., Punzo C. (2013). Retinal Gene Delivery by rAAV and DNA Electroporation. Curr Protoc Microbiol.: Chapter 14: Unit14D.4 PDF (Movie 1; Movie 2)
Molnar T., Barabas P., Birnbaumer L., Punzo C., Kefalov V., Krizaj D. (2012). Store-operated channels regulate intracellular calcium in mammalian rods. J. of Physiol.: 590 (15): 3465-3481. PDF
Hafler B.P., Surzenko N., Beier K.T., Punzo C., Trimarchi J.M., Kong J.H., Cepko C.L. (2012) Transcription factor Olig2 defines subpopulations of retinal progenitor cells biased toward specific cell fates. Proc. Natl. Acad. Sci.: 109 (20): 7882-7887. PDF
Punzo C., Xiong W., Cepko C.L. Loss of daylight vision in retinal degeneration: are oxidative stress and metabolic dysregulation to blame? (2012) Journal of Biological Chemistry: 287 (3): 1642-1648. PDF
Huanga W., Wei Xinga W., Ryskampa D.A., Punzo C., Križaj D. Localization and phenotype-specific expression of ryanodine calcium release channels in C57BL6 and DBA/2J mouse strains. (2011) Experimental Eye Research: 93: 700-709. PDF
2006 –2010
Križaj D., Huang W., Furukawa T., Punzo C., Xing W.P. Plasticity of TRPM1 expression and localization in the wild type and degenerating mouse retina. (2010) Vision Res.: 50 (23): 2460-65. PDF
Punzo C., Kornacker K., Cepko C.L. Stimulation of the insulin/mTOR pathway delays cone death in a mouse model of Retinitis Pigmentosa. (2009) Nature Neuroscience: 12 (1): 44-52. PDF
Kanadia R.N., Clark V.E., Punzo C., Trimarch J., Cepko C.L. Temporal requirement of the alternative splicing factor Sfrs1 for the survival of retinal neurons. (2008) Development: 135: 3922-33. PDF
Plaza S., Prince F., Adachi Y., Punzo C., Cribbs D., Gehring W.J. Cross-regulatory Protein-Protein Interactions between Hox and Pax Transcription factors. (2008) PNAS: 105: 13439-44. PDF
Punzo C., and Cepko C.L. (2008). Ultrasound-guided in utero injections allow studies of ocular development and function. Developmental Dynamics: 237 (4): 1034-42. PDF
Liu F., Jenssen T.K., Trimarchi J., Punzo C., Cepko C.L., Ohno-Machado L., Hovig E., Patrick Kuo W. (2007). Comparison of hybridization-based and sequencing-based gene expression technologies on biological replicates. BMC Genomics: 8: 153. PDF
Punzo C., and Cepko C.L. (2007). Cellular responses to photoreceptor death in the rd1 mouse model of retinal degeneration. Invest Ophthalmol Vis Sci.: 48 (2): 849-857. PDF
Kuo W.P., Liu F., Trimarchi J., Punzo C., et al.. (2006). A sequence-oriented comparison of gene expression measurements across different hybridization-based technologies. Nat Biotechnol:. 24 (7): 832-840. PDF
2000 – 2005
Punzo C., Plaza S., Seimiya M., Schnupf P., Kurata S., Jaeger J., and Gehring W.J. (2004). Functional divergence between eyelessand twin of eyeless in Drosophila melanogaster. Development: 131 (16): 3943-53. PDF
Punzo C., Seimiya M., Gehring W.J., and Plaza S. (2002). Differential interaction of eyeless and twin of eyeless with the sine oculisenhancer. Development: 129 (3): 625-34. PDF
Punzo C., Kurata S., and Gehring W.J. (2001) The eyeless homeodomain is dispensable for eye development in Drosophila. Genes & Development: 15. 1716-1723. PDF