Publications

Xu, R., Diep, T., Singh, K., Bakshi, S., Wu, G. F., Lu, M., Tang, G., Schwerk, J., Sun, Q., Häberle, J., Schulze, A., Tkachyova, I., Poms, M., Jacques, B., Rychak, J., Lee, S. J., & Lipshutz, G. S. (2026). A hybrid piggyBac AAV-transposon and LNP-transposase for treating arginase deficiency: A 100-fold dose reduction compared to AAV alone. Molecular therapy : the journal of the American Society of Gene Therapy, S1525-0016(26)00310-2. Advance online publication. https://doi.org/10.1016/j.ymthe.2026.04.045

Meera, P., Uusi-Oukari, M., Wallner, M., & Lipshutz, G. S. (2025). Guanidino compounds with native GABA(A) δ receptor selectivity: a tale of homeostatic compensation in δ-KO mice. BMC Neurosci . https://doi.org/10.1186/s12868-025-00987-z

Nasseri Moghaddam, Z., Reinhardt, E. K., Thurm, A., Potter, B. K., Smith, M., Graham, C., Tiller, B. H., Baker, S. A., Bilder, D. A., Bogar, R., Britz, J., Cafferty, R., Coller, D. P., DeGrauw, T. J., Hall, V., Lipshutz, G. S., Longo, N., Mercimek-Andrews, S., Miller, J. S., Pasquali, M., … Wallis, H. (2025). Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency. Orphanet journal of rare diseases, 20(1), 408. https://doi.org/10.1186/s13023-025-03900-3

Diep, T., & Lipshutz, G. S. (2025). Evaluation of SLC6A8 species conservation and the effect of pathogenic variants on creatine transport. HGG advances, 6(4), 100489. Advance online publication. https://doi.org/10.1016/j.xhgg.2025.100489

Bakshi, S., Diep, T., Willis, B. J., Reyes, R., Wu, G. F., Makris, G., Poms, M., Day, I., Sun, Q., Zhuravka, I., Lueptow, L., Tang, M., Cromie, G. A., Dudley, A. M., Häberle, J., & Lipshutz, G. S. (2025). A hypomorphic model of CPS1 deficiency for investigating the effects of hyperammonemia on the developing nervous system. Disease Models & Mechanisms, 18(7), dmm052303. https://doi.org/10.1242/dmm.052303

*The cover image of this edition of Disease Models & Mechanisms is courtesy of our very own Rachel Reyes and Grace Wu. Congratulations!

Diep, T., Zhou, W., Reyes, R.E., Nitzahn, M., Day, I. L., Makris, G., Lueptow, L., Zhuravka, I., Bakshi, S., Gangoiti, J., Padaon, H., Li, Y., Barshop, B., Harberle, J., & Lipshutz, G. S. (2025). Use of an oversized AAV8 vector for CPS1 deficiency results in long-term survival and ammonia control. Molecular Therapy – Nucleic Acids, Volume 36, Issue 1. https://doi.org/10.1016/j.omtn.2025.102470

Day, I., Tamboline, M., Lueptow, L., Zhuravka, I., Diep, T., Tkachyova, I., Xu, S., Schulze, A., & Lipshutz, G. S. [18F]FDG-PET and [18F]MPPF-PET are brain biomarkers for the creatine transporter Slc6a8 loss of function mutation. Sci Rep 15, 7280 (2025). https://doi.org/10.1038/s41598-025-92022-80

Day, I. L., Tamboline, M., Lipshutz, G.S., Xu, S. Recent developments in translational imaging of in vivo gene therapy outcomes. Molecular Therapy (2024).

Koeberl, D., Schulze, A., Sondheimer, N., Lipshutz, G. S., Geberhiwot, T., Li, L., Saini, R., Luo, J., Sikirica, V., Jin, L., Liang, M., Leuchars, M., & Grunewald, S. (2024). Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia. Nature, 628(8009), 872–877.

Meera, P., Uusi‐Oukari, M., Wallner, M., & Lipshutz, G. S. (2023). GABAA-Receptors as Plausible Molecular Targets and Mediators for Taurine and Homotaurine Actions. Front. Pharmacol. Sec. Neuropharmacology. https://www.frontiersin.org/articles/10.3389/fphar.2023.1271203/full

Meera, P., Uusi‐Oukari, M., Wallner, M., & Lipshutz, G. S. (2023). Guanidinoacetate (GAA) is a potent GABAA receptor GABA mimetic: Implications for neurological disease pathology. Journal of Neurochemistry. https://doi.org/10.1111/jnc.15774

Prasad, S., Dimmock, D. P., Greenberg, B., Walia, J. S., Sadhu, C., Tavakkoli, F., & Lipshutz, G. S. (2022). Immune Responses and Immunosuppressive Strategies for Adeno-Associated Virus-Based Gene Therapy for Treatment of Central Nervous System Disorders: Current Knowledge and Approaches. Human gene therapy, 33(23-24), 1228–1245. https://doi.org/10.1089/hum.2022.138

Khoja, S., Liu, X. B., Truong, B., Nitzahn, M., Lambert, J., Eliav, A., Nasser, E., Randolph, E., Burke, K. E., White, R., Zhu, X., Martini, P. G., Nissim, I., Cederbaum, S. D., & Lipshutz, G. S. (2022). Intermittent lipid nanoparticle mRNA administration prevents cortical dysmyelination associated with arginase deficiency. Molecular Therapy – Nucleic Acids, 28, 859–874. https://doi.org/10.1016/j.omtn.2022.04.012

Khoja, S., Lambert, J., Nitzahn, M., Eliav, A., Zhang, Y., Tamboline, M., . . . Lipshutz, G. S. (2022). Gene therapy for guanidinoacetate methyltransferase deficiency restores cerebral and myocardial creatine while resolving behavioral abnormalities. Molecular Therapy – Methods & Clinical Development, 25, 278-296. doi:10.1016/j.omtm.2022.03.015

Nitzahn M, Truong B, Khoja S, Vega-Crespo A, Le C, Eliav A, Makris G, Pyle AD, Häberle J, Lipshutz GS. CRISPR-Mediated Genomic Addition to CPS1 Deficient iPSCs is Insufficient to Restore Nitrogen Homeostasis. Yale J Biol Med. 2021 Dec 29;94(4):545-557. PMID: 34970092; PMCID: PMC8686786.

Nitzahn M, Lipshutz GS. CPS1: Looking at an ancient enzyme in a modern light. Mol Genet Metab. 2020 Nov;131(3):289-298. doi: 10.1016/j.ymgme.2020.10.003. Epub 2020 Oct 10. PMID: 33317798; PMCID: PMC7738762.

Nitzahn M, Allegri G, Khoja S, Truong B, Makris G, Häberle J, Lipshutz GS. Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency. Mol Ther. 2020 Jul 8;28(7):1717-1730. doi: 10.1016/j.ymthe.2020.04.011. Epub 2020 Apr 17. PMID: 32359471; PMCID: PMC7335736.

Khoja S, Nitzahn M, Truong B, Lambert J, Willis B, Allegri G, Rüfenacht V, Häberle J, Lipshutz GS. A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia. J Inherit Metab Dis. 2019 Nov;42(6):1044-1053. doi: 10.1002/jimd.12048. Epub 2019 Mar 5. PMID: 30835861; PMCID: PMC6728231.

Soria LR, Nitzahn M, De Angelis A, Khoja S, Attanasio S, Annunziata P, Palmer DJ, Ng P, Lipshutz GS, Brunetti-Pierri N. Hepatic glutamine synthetase augmentation enhances ammonia detoxification. J Inherit Metab Dis. 2019 Nov;42(6):1128-1135. doi: 10.1002/jimd.12070. Epub 2019 Mar 11. PMID: 30724386; PMCID: PMC6684872.

Truong B, Allegri G, Liu XB, Burke KE, Zhu X, Cederbaum SD, Häberle J, Martini PGV, Lipshutz GS. Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency. Proc Natl Acad Sci U S A. 2019 Oct 15;116(42):21150-21159. doi: 10.1073/pnas.1906182116. Epub 2019 Sep 9. PMID: 31501335; PMCID: PMC6800360.

Liu XB, Haney JR, Cantero G, Lambert JR, Otero-Garcia M, Truong B, Gropman A, Cobos I, Cederbaum SD, Lipshutz GS. Hepatic arginase deficiency fosters dysmyelination during postnatal CNS development. JCI Insight. 2019 Sep 5;4(17):e130260. doi: 10.1172/jci.insight.130260. PMID: 31484827; PMCID: PMC6777909.

Khoja S, Nitzahn M, Hermann K, Truong B, Borzone R, Willis B, Rudd M, Palmer DJ, Ng P, Brunetti-Pierri N, Lipshutz GS. Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy. Mol Genet Metab. 2018 Aug;124(4):243-253. doi: 10.1016/j.ymgme.2018.04.001. Epub 2018 Apr 12. PMID: 29801986; PMCID: PMC6076338.

Salas JR, Chen BY, Wong A, Duarte S, Angarita SAK, Lipshutz GS, Witte ON, Clark PM. Noninvasive Imaging of Drug-Induced Liver Injury with 18F-DFA PET. J Nucl Med. 2018 Aug;59(8):1308-1315. doi: 10.2967/jnumed.117.206961. Epub 2018 Mar 1. PMID: 29496991; PMCID: PMC6071498.

Angarita SAK, Truong B, Khoja S, Nitzahn M, Rajbhandari AK, Zhuravka I, Duarte S, Lin MG, Lam AK, Cederbaum SD, Lipshutz GS. Human hepatocyte transplantation corrects the inherited metabolic liver disorder arginase deficiency in mice. Mol Genet Metab. 2018 Jun;124(2):114-123. doi: 10.1016/j.ymgme.2018.04.005. Epub 2018 Apr 21. PMID: 29724658; PMCID: PMC5976549.

Koo M, Lipshutz GS, Cederbaum SD, Lassman C. Biopsy-proven Hepatocellular Carcinoma in a 53-year-old Woman With Arginase Deficiency. Pediatr Dev Pathol. 2017 Nov-Dec;20(6):517-521. doi: 10.1177/1093526617697058. Epub 2017 Mar 7. PMID: 29187023.

Mavila N, Trecartin A, Spurrier R, Xiao Y, Hou X, James D, Fu X, Truong B, Wang C, Lipshutz GS, Wang KS, Grikscheit TC. Functional Human and Murine Tissue-Engineered Liver Is Generated from Adult Stem/Progenitor Cells. Stem Cells Transl Med. 2017 Jan;6(1):238-248. doi: 10.5966/sctm.2016-0205. Epub 2016 Aug 30. PMID: 28170183; PMCID: PMC5442734.

Lee PC, Truong B, Vega-Crespo A, Gilmore WB, Hermann K, Angarita SA, Tang JK, Chang KM, Wininger AE, Lam AK, Schoenberg BE, Cederbaum SD, Pyle AD, Byrne JA, Lipshutz GS. Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells. Mol Ther Nucleic Acids. 2016 Nov 29;5(11):e394. doi: 10.1038/mtna.2016.98. PMID: 27898091; PMCID: PMC5155330.

Vega-Crespo A, Truong B, Hermann KJ, Awe JP, Chang KM, Lee PC, Schoenberg BE, Wu L, Byrne JA, Lipshutz GS. Investigating the functionality of an OCT4-short response element in human induced pluripotent stem cells. Mol Ther Methods Clin Dev. 2016 Jul 20;3:16050. doi: 10.1038/mtm.2016.50. PMID: 27500178; PMCID: PMC4954563.

Cantero G, Liu XB, Mervis RF, Lazaro MT, Cederbaum SD, Golshani P, Lipshutz GS. Rescue of the Functional Alterations of Motor Cortical Circuits in Arginase Deficiency by Neonatal Gene Therapy. J Neurosci. 2016 Jun 22;36(25):6680-90. doi: 10.1523/JNEUROSCI.0897-16.2016. PMID: 27335400; PMCID: PMC4916246.

Liu Y, Du J, Choi JS, Chen KJ, Hou S, Yan M, Lin WY, Chen KS, Ro T, Lipshutz GS, Wu L, Shi L, Lu Y, Tseng HR, Wang H. A High-Throughput Platform for Formulating and Screening Multifunctional Nanoparticles Capable of Simultaneous Delivery of Genes and Transcription Factors. Angew Chem Int Ed Engl. 2016 Jan 4;55(1):169-73. doi: 10.1002/anie.201507546. Epub 2015 Nov 17. PMID: 26768819; PMCID: PMC5577986.

Tai DS, Hu C, Lee CC, Martinez M, Cantero G, Kim EH, Tarantal AF, Lipshutz GS. Development of operational immunologic tolerance with neonatal gene transfer in nonhuman primates: preliminary studies. Gene Ther. 2015 Nov;22(11):923-30. doi: 10.1038/gt.2015.65. Epub 2015 Aug 23. PMID: 26333349; PMCID: PMC5483994.

Tai DS, Hu C, Kim EH, Lipshutz GS. Augmentation of transgene-encoded protein after neonatal injection of adeno-associated virus improves hepatic copy number without immune responses. Pediatr Res. 2015 Sep;78(3):239-246. doi: 10.1038/pr.2015.109. Epub 2015 Jun 4. PMID: 26042522; PMCID: PMC4540625.

Hu C, Kasten J, Park H, Bhargava R, Tai DS, Grody WW, Nguyen QG, Hauschka SD, Cederbaum SD, Lipshutz GS. Myocyte-mediated arginase expression controls hyperargininemia but not hyperammonemia in arginase-deficient mice. Mol Ther. 2014 Oct;22(10):1792-802. doi: 10.1038/mt.2014.99. Epub 2014 Jun 3. PMID: 24888478; PMCID: PMC4428413.

Kasten J, Hu C, Bhargava R, Park H, Tai D, Byrne JA, Marescau B, De Deyn PP, Schlichting L, Grody WW, Cederbaum SD, Lipshutz GS. Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse. Mol Genet Metab. 2013 Nov;110(3):222-30. doi: 10.1016/j.ymgme.2013.06.020. Epub 2013 Jul 6. PMID: 23920045; PMCID: PMC3800271.

Awe JP, Lee PC, Ramathal C, Vega-Crespo A, Durruthy-Durruthy J, Cooper A, Karumbayaram S, Lowry WE, Clark AT, Zack JA, Sebastiano V, Kohn DB, Pyle AD, Martin MG, Lipshutz GS, Phelps PE, Pera RA, Byrne JA. Generation and characterization of transgene-free human induced pluripotent stem cells and conversion to putative clinical-grade status. Stem Cell Res Ther. 2013 Jul 26;4(4):87. doi: 10.1186/scrt246. PMID: 23890092; PMCID: PMC3854769.

Hu C, Lipshutz GS. AAV-based neonatal gene therapy for hemophilia A: long-term correction and avoidance of immune responses in mice. Gene Ther. 2012 Dec;19(12):1166-76. doi: 10.1038/gt.2011.200. Epub 2012 Jan 12. PMID: 22241178; PMCID: PMC3432168.

Lee EK, Hu C, Bhargava R, Rozengurt N, Stout D, Grody WW, Cederbaum SD, Lipshutz GS. Long-term survival of the juvenile lethal arginase-deficient mouse with AAV gene therapy. Mol Ther. 2012 Oct;20(10):1844-51. doi: 10.1038/mt.2012.129. Epub 2012 Jul 3. PMID: 22760543; PMCID: PMC3464644.

Hu C, Cela RG, Suzuki M, Lee B, Lipshutz GS. Neonatal helper-dependent adenoviral vector gene therapy mediates correction of hemophilia A and tolerance to human factor VIII. Proc Natl Acad Sci U S A. 2011 Feb 1;108(5):2082-7. doi: 10.1073/pnas.1015571108. Epub 2011 Jan 18. PMID: 21245323; PMCID: PMC3033287.

Hu C, Busuttil RW, Lipshutz GS. RH10 provides superior transgene expression in mice when compared with natural AAV serotypes for neonatal gene therapy. J Gene Med. 2010 Sep;12(9):766-78. doi: 10.1002/jgm.1496. PMID: 20821747; PMCID: PMC2948027.

Gau CL, Rosenblatt RA, Cerullo V, Lay FD, Dow AC, Livesay J, Brunetti-Pierri N, Lee B, Cederbaum SD, Grody WW, Lipshutz GS. Short-term correction of arginase deficiency in a neonatal murine model with a helper-dependent adenoviral vector. Mol Ther. 2009 Jul;17(7):1155-63. doi: 10.1038/mt.2009.65. Epub 2009 Apr 14. PMID: 19367256; PMCID: PMC2835205.