Search Close Search
Search Close Search
Page Menu


 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 Reports23: 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 Vision23: 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 Medicine22 (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 & Disease7 (6): e2279. PDF

Petit L., Khanna H., Punzo C. (2016). Advances in gene Therapy for Diseases of the Eye. Human Gene Therapy27 (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. Oncotarget6 (17): 16786-16787. PDF

Cepko C.L. & Punzo C. (2015). Sugar for sight. Nature522: 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 Research135: 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 melanogasterDevelopment: 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 DrosophilaGenes & Development15. 1716-1723. PDF