Publications

Peer reviewed manuscripts

  1. Clayton P. Santiago, Casey J. Keuthan, Sanford L. Boye, Shannon E. Boye, Aisha A. Imam, and John D. Ash. A drug-tunable gene therapy for broad-spectrum protection against retinal degeneration. Molecular Therapy, 2018, in press
  2. Paul D. Gamlin, John J. Alexander, Sanford L. Boye, C. Douglas Witherspoon, Shannon E. Boye.  SubILM Injection of AAV for Gene Delivery to the Retina. Methods in Molecular Biology, 2018, in press
  3. Nichols M. Kanaan, William W. Hauswirth, Mavis Agbandje-McKenna, Sanford L. Boye, Benjamin Coberly, Caryl E. Sortwell, Shannon E. Boye, Fredric P. Manfredsson. Rationally Engineered AAV Capsids Improve Transduction and Volumetric Spread in the Central Nervous System. Molecular Therapy Nucleic Acids. 2017 Sep 15;8:184-197
  4. William A. Beltran, Artur V. Cideciyan, Shannon E. Boye, Guo-Jie Ye, Simone Iwabe, Valerie Dufour, Luis Felipe Marinho, Malgorzata Swider, Mychajlo S. Kosyk, Jin Sha, Sanford L. Boye, James J. Peterson, C. Douglas Witherspoon, John J. Alexander, Gui-Shuang Ying, Mark S. Shearman, Jeffrey D. Chulay, William W. Hauswirth, Paul D. Gamlin, Samuel G. Jacobson, Gustavo D. Aguirre. Optimization of Retinal Gene Therapy for X-linked Retinitis Pigmentosa due to RPGR mutations. Molecular Therapy. In press
  5. Samuel G. Jacobson, Artur V. Cideciyan, Alexander Sumaroka, Alejandro J. Roman, Jason Charng, Monica Lu, Shreyasi Choudhury, Sharon B. Schwartz, Elise Heon, Gerald A. Fishman and Shannon E. Boye. Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis caused by GUCY2D Mutations. American Journal of Ophthalmology. In press
  6. Jung-Hwa Cho, Carter J. Swanson, Jeannie Chen, Ang Li, Shannon E. Boye, Kasey Rose, Sivaraj Sivaramakrishnan, Cheng-Ming Chuong & Robert H. Chow. GCaMP-R: A genetically encoded dual-color ratiometric calcium indicator. ACS Chemical Biology. In press
  7. Shannon E. Boye. Increased vulnerability of photoreceptors to aberrant splicing highlight the utility of AON- based therapy for CEP290-LCA. Stem Cell Investigations. December, 2016 *Invited commentary. In press.
  8. Shreyasi Choudhury, Christianne E. Strang, John J. Alexander, Miranda L. Scalabrino, Julie Lynch Hill, Daniel T. Kasuga, C. Douglas Witherspoon, Sanford L. Boye, Paul D. Gamlin, and Shannon E. Boye. Novel Methodology for Creating Macaque Retinas with Sortable Cell Populations. Frontiers Neuroscience, in press
  9. Keqiang Xie, Lesley A. Colgan, Maria Dao, Olga Ostrovskaya, Brian S. Muntean, Cesare Orlandi, Sanford L. Boye, Shannon E. Boye, Laurie P. Sutton, Chien-Cheng Shih, Yuqing Li, Baoji Xu, Roy Smith, Ryohei Yasuda and Kirill A. Martemyanov. NF1 is a direct G protein effector essential for opioid signaling to Ras in the striatum and reward processing. Current Biology, in press
  10. Sanford L. Boye, Elena V. Olshevskaya, Igor V. Peshenko, K. Tyler McCullough, Shannon E. Boye, and Alexander M. Dizhoor. Functional study of two biochemically unusual GUCY2D Leber congenital amaurosis-linked mutations expressed via AAV in mouse retinas. Molecular Vision, in press
  11. Shannon E. Boye, John J. Alexander, C. Douglas Witherspoon, Sanford L. Boye, James J. Peterson, Mark E. Clark, Kristen J. Sandefer, Chris A. Girkin, William W. Hauswirth, Paul D. Gamlin. Highly Efficient Delivery of AAV vectors to the Primate Retina. Human Gene Therapy 2016 Jul 20. [Epub ahead of print].
    *we received journal cover
  12. Ryan F. Boyd, Sanford L. Boye, Thomas J Conlon, Kirsten E Erger, Dodd G. Sledge, Ingeborg M. Langohr, William W. Hauswirth, András M. Komáromy, Shannon E. Boye, Simon M. Petersen-Jones, and Joshua T. Bartoe. Reduced retinal transduction and enhanced transgene-directed immunogenicity with intravitreal delivery of rAAV following posterior vitrectomy in dogs. Gene Therapy. 2016 Jun;23(6):548-56
  13. Sanford L. Boye, Antonette Bennett, Miranda L. Scalabrino, K. Tyler McCullough, Kim Van Vliet, Shreyasi Choudhury, Qing Ruan, James Peterson, Mavis Agbandje-McKenna, Shannon E. Boye. “The role of heparan sulphate in transduction of intravitreally delivered AAV vectors” Journal of Virology, 2016; PubMed [journal] PMID: 26865709
  14. Cristhian J Ildefonso, Henrique Jaime, Emily E Brown, Chulbul Ahmed, Michael Massengill, Manas R Biswal, Shannon E Boye, William W Hauswirth, John D Ash, Qiuhong Li, Alfred S Lewin. Targeting the Nrf2 Signaling Pathway in the Retina with a Gene-Delivered Secretable and Cell-Penetrating Peptide. IOVS, 2016 Feb 1;57(2):372-86. doi: 10.1167/iovs.15-17703. PMID:26842755
  15. Guo-Jie Ye, Ewa Budzynski; Peter Sonnentag; T. Michael Nork; Nader Sheibani; Zafer Gurel, Sanford L. Boye, James J. Peterson, Shannon E. Boye, William W. Hauswirth, Jeffrey D. Chulay. Cone-specific promoters for gene therapy for Achromatopsia and other retinal diseases. Human Gene Therapy. 2016; 27(1):72-82. PubMed [journal] PMID: 26603570, PMCID:PMC4741229
  16. Ryan F. Boyd, Dodd G. Sledge, Sanford L. Boye, Shannon E. Boye, William W. Hauswirth, Andras M. Komaromy, Simon M. Petersen-Jones, and Joshua T. Bartoe. Photoreceptor-Targeted Gene Delivery Using Intravitreally Administered AAV Vectors in Dogs. Gene Therapy, Gene Ther. 2016; 23(2):223-30. PubMed [journal] PMID: 26467396
  17. Shannon E. Boye. A mini-review: animal models of GUCY2D Leber congenital amaurosis (LCA1). Advances in experimental medicine and biology. 2016; 854:253-8. PubMed [journal] PMID: 26427419
  18. Miranda L. Scalabrino, Sanford L. Boye, Kathryn M. H. Fransen, Jennifer M. Noel, Frank M. Dyka, Seok Hong Min, Qing Ruan, Charles N. de Leeuw, Elizabeth M. Simpson, Ronald G. Gregg, Maureen A. McCall, Neal S. Peachey, Shannon E. Boye. Intravitreal delivery of a novel AAV vector targets ON bipolar cells and restores visual function in a mouse model of complete Congenital Stationary Night Blindness. Human Molecular Genetics, 2015; 24(21):6229-39. PubMed [journal] PMID: 26310623,
    PMCID: PMC4612567
  19. Sanford L. Boye and Shannon E. Boye. “Genetic Therapies for Inherited Retinal Disease”. Invited, peer-reviewed submission to ‘Retinal Physician’ magazine. Published 5-1-15
  20. Daniel Lipinski, Chris Reid , Sanford Boye , James Peterson , Xiaoping Qi , Shannon E. Boye, Michael Boulton , William Hauswirth. Systemic vascular transduction by capsid mutant adeno-associated virus following intravenous injection. Human Gene Therapy, 2015; 26(11):767-76. PubMed [journal] PMID: 26359319, PMCID: PMC4651034
  21. Sanford L. Boye, James J. Peterson, Shreyasi Choudhury, Seok Hong Min, Qing Ruan, K. Tyler McCullough, Zhonghong Zhang, Elena V. Olshevskaya, Igor V. Peshenko, William W. Hauswirth, Xi-Qin Ding, Alexander M. Dizhoor, Shannon E. Boye. Gene therapy fully restores vision to the all-cone Nrl-/-Gucy2e-/- mouse model of Leber congenital amaurosis-1 (LCA1). Human Gene Therapy, 2015; 26(9):575-92. PubMed [journal] PMID: 26247368, PMCID: PMC4575531
    *we received journal cover for this article
  22. Barbara Bogner, Sanford L. Boye, Seok-Hong Min, James Peterson, Qing Ruan, Herbert A. Reitsamer, William W. Hauswirth, Shannon E. Boye. Capsid Mutated Adeno-Associated Virus Delivered to the Anterior Chamber Results in Efficient Transduction of Trabecular Meshwork in Mouse and Rat. PLoS One. 2015;10(6):e0128759. PubMed [journal] PMID: 26052939, PMCID: PMC4460001
  23. Ildefonso CJ, Jaime H, Biswal MR, Boye SE, Li Q, et al. Gene therapy with the caspase activation and recruitment domain reduces the ocular inflammatory response. Molecular therapy. 2015; 23(5):875-84. PubMed [journal] PMID: 25698151, PMCID: PMC4427880
  24. Matthew Benskey , Nathan Kuhn , James Galligan , Joanna Garcia , Shannon E. Boye , William Hauswirth , Christian Mueller , Sanford Boye, Frederic Manfredson. Targeted Gene Therapy of the Enteric Nervous System Using AAV; A Comparison Across Serotypes and Capsid Mutants. Mol Ther. 2015; 23(3):488-500. PubMed [journal] PMID: 25592336, PMCID:PMC4351472
  25. Ildefonso CJ, Jaime H, Rahman MM, Li Q, Boye SE, Hauswirth WW, Lucas AR, McFadden G, Lewin AS. Gene delivery of a viral anti-inflammatory protein to combat ocular inflammation. Hum Gene Ther. 2015; 26(1):59-68. PubMed [journal] PMID: 25420215, PMCID: PMC4303190
  26. Shannon E. Boye. “Insights gained from gene therapy in animal models of retGC1 deficiency”. Invited review for Frontiers in Molecular Neuroscience (collection on ‘Ca2+ and Ca2+-interlocked membrane guanlyate cyclase modulation of neuronal and cardiovascular signal transduction’)2014; 7:43. PubMed [journal] PMID: 24860425,
    PMCID: PMC4030156
  27. Marina O’Reilly, Howard Federoff, Yuman Fong, Donald B. Kohn, Michael Ahmed, Aravind Asokan, Shannon E. Boye, Ronald Crystal, Satiro De Oliveira, Linda Gargiulo, Scott Harper, Yasuhiro Ikeda, Robert Jambou, Maureen Montgomery, Lawrence Prograis, Eugene Rosenthal, Daniel Sterman, Luk Vandenberghe, Laurie Zoloth, and Jacqueline Corrigan-Curay. Gene Therapy: Charting a Future Course. Summary of a National Institutes of Health Workshop, April 12, 2013. Human Gene Therapy 2014; 25(6):488-97. PubMed [journal] PMID:24773122, PMCID: PMC4064731
  28. Shannon E. Boye, Wei-Chieh Huang, Alejandro J. Roman, Alexander Sumaroka, Sanford L. Boye, Renee C. Ryals, Melani B. Olivares, Qing Ruan, Budd A. Tucker, Edwin M. Stone, Anand Swaroop, Artur V. Cideciyan, William W. Hauswirth, and Samuel G. Jacobson. Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy. (2014) PLoS One. 2014; 9(3):e92928.PubMed [journal] PMID: 24671090, PMCID: PMC3966841
  29. Frank M. Dyka, Sanford L. Boye, Renee C. Ryals, Vince A. Chiodo, Shannon E. Boye, William W. Hauswirth. Cone specific promoter for use in gene therapy of retinal degenerative diseases. Advances in experimental medicine and biology. 2014; 801:695-701. NIHMSID: NIHMS694532 PubMed [journal]PMID: 24664760, PMCID: PMC4450355
  30. Frank M. Dyka, Sanford L. Boye, Vince A. Chiodo, William W. Hauswirth, Shannon E. Boye. Dual adeno-associated virus vectors result in efficient in vitro and in vivo expression of an oversized gene, MYO7A. .Hum Gene Ther Methods. 2014; 25(2):166-77. PubMed [journal] PMID:24568220, PMCID: PMC3991978
  31. Charles de Leeuw, Frank Dyka, Sanford Boye, Stéphanie Laprise, Michelle Zhou, Alice Chou, Lisa Borretta, Simone McInerny, Kathleen Banks, Elodie Portales-Casamar, Magdalena Swanson, Cletus D’Souza, Shannon Boye, Steven Jones, Robert Holt, Daniel Goldowitz, William Hauswirth, Elizabeth Simpson and Wyeth Wasserman. “Targeted CNS Delivery Using Human Minipromoters and Demonstrated Compatibility with Adeno-associated Viral Vectors”. Mol Ther Methods Clin Dev. 2014; 1:5.NIHMSID: NIHMS554438 PubMed [journal] PMID: 24761428, PMCID: PMC3992516
  32. Cohen J, Bhullar S, Kasuga D, Boye S, Elhalis H, Kay CN. “Retinal pigment epithelial detachment in ABCA4-associated Stargardt disease.” Ophthalmic Surgery Lasers and Imaging. 2013 2013; 44(4):401-4. PubMed [journal] PMID:23883535
  33. Christine N. Kay, Renee C. Ryals, George V. Aslanidi, Seok Hong Min, Qing Ruan, Jingfen Sun, Frank M. Dyka, Daniel Kasuga, Andrea E. Ayala, Kim Van Vliet, Mavis Agbandje-McKenna, William W. Hauswirth, Sanford L. Boye, and Shannon E. Boye. Targeting photoreceptors via intravitreal delivery using novel, capsid-mutated AAV vectors. PLoS One. 2013; 8(4):e62097. PubMed [journal] PMID: 23637972, PMCID: PMC3637363
  34. Thomas J. Conlon, Wed-Tao Deng, Kristen Erger, Travis Cossette, Ji-jing Pang, Renee Ryals, Nathalie Clement, Brian Cleaver, Issam McDoom, Shannon E. Boye, Marc C. Peden, Mark B. Sherwood, Corrine R. Abernathy, Fowzan S. Alkuraya, Sanford L. Boye, William W. Hauswirth. Preclinical potency and safety studies of an AAV2-mediated gene therapy vector for the treatment of MERTK associated retinitis pigmentosa. Human Gene Therapy. 2013; 24(1):23-8. NIHMSID: NIHMS521408 PubMed [journal] PMID: 23692380, PMCID:PMC3856558
  35. Li Jiang, Tansy Z. Li, Shannon E. Boye, William W. Hauswirth, Jeanne M. Frederick, Wolfgang Baehr. RNAi-mediated gene suppression in a GCAP1(L151F) cone-rod mouse model. PLoS One. 2013;8(3):e57676. PubMed [journal] PMID: 23472098, PMCID: PMC3589431
  36. Vanda Lopes*, Shannon E. Boye*, Carrie M. Louie, Sanford Boye, Frank Dyka, Vince Chiodo, William W. Hauswirth, D. S. Williams. “Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus”. Gene Therapy. 2013; 20(8):824-33.
    NIHMSID: NIHMS431737 PubMed [journal] PMID: 23344065, PMCID: PMC3640772
    *equal contribution
  37. Shannon E. Boye, Sanford L. Boye, Alfred Lewin, William W. Hauswirth. “A Comprehensive Review of Retinal Gene Therapy”. Molecular Therapy 2013; 21(3):509-19. PubMed [journal] PMID: 23358189, PMCID: PMC3642288
  38. Sanford L. Boye, Igor V. Peshenko, Wei Chieh Huang, Seok Hong Min, Issam McDoom, Xuan Liu, Frank M. Dyka, Tom C. Foster, Yumiko Umino, Sukanya Karan, Samuel G. Jacobson,Wolfgang Baehr, Alexander Dizhoor, William W. Hauswirth and Shannon E. Boye. “AAV-mediated gene therapy in the guanylate cyclase (RetGC1/RetGC2) double knockout mouse model of Leber congenital amaurosis”. Human Gene Therapy. 2013; 24(2):189-202. PubMed [journal] PMID: 23210611, PMCID: PMC3581260
  39. Shannon E. Boye, John J. Alexander, Sanford L. Boye, Clark D. Witherspoon, Kristen J. Sandefer, Thomas J. Conlon, Kirsten Erger, Vince A. Chiodo, Mark E. Clark, Christopher A. Girkin, William W. Hauswirth, Paul D. Gamlin. The human rhodopsin kinase promoter in an AAV5 vector confers rod and cone specific expression in the primate retina. Human Gene Therapy. 2012; 23(10):1101-15.PubMed [journal] PMID: 22845794, PMCID: PMC3472519.
    *we received journal cover for this
  40. Hong Yu, Rajeshwari D. Koilkonda, Tsung-Han Chou, Vittorio Porciatti, Sacide Ozdemir, Vince Chiodo, Sanford Boye, Shannon Boye, William W. Hauswirth, Nicholas Muzycyka, Alfred S. Lewin, and John Guy. Gene delivery to mitochondria by targeting modified adenoassociated virus suppresses Leber’s hereditary optic neuropathy in a mouse model. Proc Natl Acad Sci U S A (2011). 2012 May 15;109(20):E1238-47
  41. Jiang L, Zhang H, Dizhoor AM, Boye SE, Hauswirth WW, Frederick JM, Baehr W. Long term interference gene therapy in a dominant retinitis pigmentosa mouse model. Proc Natl Acad Sci U S A (2011) Nov 8;108(45):18476-81.
  42. Sanford L. Boye, Thomas Conlon, Kirsten Erger, Renee Ryals, Andy Neeley, Travis Cossette, Jijing Pang, Frank M. Dyka, William W. Hauswirth, Shannon E. Boye. (2011) Long term preservation of cone photoreceptors and restoration of cone function by gene therapy in the guanylate cyclase-1 knockout (GC1KO) mouse. Invest Ophthalmol Vis Sci 2011; 52(10):7098-108. PubMed [journal] PMID: 21778276, PMCID:PMC3207713
  43. Renee C. Ryals, Sanford L. Boye, William W. Hauswirth, Shannon E. Boye. (2011) Quantifying transduction efficiencies of unmodified and tyrosine capsid mutant AAV vectors in vitro using two ocular cell lines. Mol Vis. 2011; 17:1090-102. PubMed [journal] PMID: 21552473, PMCID: PMC3087449
  44. M. Mehdi Doroudchi, Kenneth P. Greenberg, Jianwen Liu, Kimberly A. Silka, Edward S. Boyden, Jennifer A. Lockridge, A. Cyrus Arman, Ramesh Janani, Shannon E. Boye, Sanford L. Boye, Gabriel M. Gordon, Benjamin C. Matteo, Alapakkam P. Sampath, William W. Hauswirth, Alan Horsager. (2011) Virally-Delivered Channelrhodopsin-2 Safely and Effectively Restores Visual Function in Multiple Mouse Models of Blindness. Mol Ther. 2011; 19(7):1220-9. PubMed [journal] PMID: 21505421,PMCID: PMC3129568
  45. Jijing Pang, Xufeng Dai, Shannon E. Boye, Ilaria Barone, Sanford L. Boye, Song Mao, Drew Everhart, Astra Dinculescu, Li Liu, Yumiko Umino, Bo Lei, Bo Chang, Robert Barlow, Enrica Strettoi, William Hauswirth. Long term retinal function and structure rescue using capsid mutant AAV8 vector in the rd10 mouse, a model of recessive retinitis pigmentosa. Mol Ther. 2011; 19(2):234-42. PubMed [journal] PMID: 21139570,
    PMCID: PMC3034861
  46. Shannon E. Boye, Sanford L. Boye, Jijing Pang, Renee Ryals, Drew Everhart, Yumiko Umino, Andy W. Neeley, Joseph Besharse, Robert Barlow, William W. Hauswirth. Functional and behavioral restoration of vision by gene therapy in a mouse model of Leber congenital amaurosis-1 (LCA1). PLoS One. 2010; 5(6):e11306. PubMed [journal] PMID: 20593011, PMCID:PMC2892468
  47. William A. Beltran, Sanford L. Boye, Shannon E. Boye, Vince A. Chiodo, Gregory M. Acland, Alfred S. Lewin, William W. Hauswirth, Gustavo D. Aguirre. (2010) rAAV2/5 gene-targeting to rods: dose-dependent efficiency and complications associated with different promoters. Gene Therapy. 2010; 17(9):1162-74. NIHMSID: NIHMS188479 PubMed [journal] PMID: 20428215, PMCID: PMC2914811
  48. Jijing Pang*, Shannon E. Boye*, Bo Lei, Sanford L. Boye, Drew Everhart, Yumiko Umino, Baerbel Rohrer, John Alexander, Jie Li, Bo Chang, Robert Barlow, and William W. Hauswirth. Self-complimentary AAV-mediated gene therapy restores cone function and prevents cone degeneration in two models of RPE65 deficiency. Gene Therapy. 2010; 17(7):815-26. NIHMSID:NIHMS258669 PubMed [journal] PMID: 20237510, PMCID: PMC3014850
    *equal contribution
  49. Roman AJ, Boye SL, Aleman TS, Pang JJ, McDowell JH, Boye SE, Cideciyan AV, Jacobson SG, Hauswirth WW. Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis. Mol Vis. 2007; 13:1701-10.PubMed [journal] PMID: 17960108
  50. Haire SE, Pang J, Boye SL, Sokal I, Craft CM, Palczewski K, Hauswirth WW, Semple-Rowland SL. Light-driven cone arrestin translocation in cones of postnatal guanylate cyclase-1 knockout mouse retina treated with AAV-GC1. Invest Ophthalmol Vis Sci. 2006;47(9):3745-53. NIHMSID: NIHMS14686 PubMed [journal] PMID: 16936082, PMCID:PMC1761699
  51. Williams ML, Coleman JE, Haire, Shannon E, Aleman TS, Cideciyan AV, Sokal I, Palczewski K, Jacobson SG, Semple-Rowland SL. Lentiviral Expression of Retinal Guanylate Cyclase-1 (RetGC1) Restores Vision in an Avian Model of Childhood Blindness. PLoS Med. 2006; 3(6):e201. PubMed [journal] PMID: 16700630, PMCID: PMC1463903
  52. Jijing Pang, Mei Cheng, Shannon E Haire, Vicente Planelles and Janet C. Blanks. Efficiency of lentiviral transduction during development in normal and rd mice. Mol Vis. 2006; 12:756-67. PubMed [journal] PMID: 16862069

Book Chapters

  1. Title: Retinal Disorders: Genetic Approaches to Diagnosis and Treatment Editors: Eric Pierce, Richard Masland, Joan Miller Publisher: Cold Spring Harbor Press Chapter Title: Leber congenital amaurosis due to mutations in GUCY2D Author: Shannon E. Boye 2013
  2.  Title: A Guide to Human Gene Therapy Editors: Herzog and Zolotukhin Publisher: World Scientific Chapter Title: Retinal Diseases Authors: Shannon E Boye, Sanford L Boye, William W. Hauswirth 2009
  3. Title: Mouse Visual System Editors: Chalupa and Williams Publisher: MIT Press Chapter Title: AAV Gene Therapy in Mouse Models of Retinal Degeneration Authors: SE Boye , SL Boye, WW Hauswirth 2008
  4. Title: Regenerative Medicine Editors: Robert C. Fisher and Edward W. Scott Publisher: Jones and Bartlett Chapter Title: Retina Authors: Hilda Petrs-Silva, Shannon Boye and William W. Hauswirth

Collections Edited

  1. Frontiers in Neuroscience
    “Ocular Gene Therapy: From Basic Research to Translational Studies”
    Editors: Shannon E. Boye, Stylianos Michalakis, Simon Petersen-Jones, Hildegard Büning. Collection in process 2015-2017

Other

  1. Sanford L. Boye and Shannon E. Boye. “Genetic Therapies for Inherited Retinal Disease”. Invited submission to ‘Retinal Physician’ magazine (peer reviewed). Published 5-1-15