Claudio Punzo, PhD
2016 – 2020
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 Theoretica Chemistryl 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: PDF
Petit L., Khanna H., Punzo C. (2016). Advances in gene Therapy for Diseases of the Eye. Human Gene Therapy: 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: 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