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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 Therapy28 (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 Theoretica Chemistryl Biology408: 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. 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


Dr. Claudio Punzo from the Punzo Lab (Horae Gene Therapy Center) is conducting research and developing therapeutic strategies for rare inherited diseases such as the Retinitis Pigmentosa

Claudio Punzo, PhD


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