Selected Publications

Abkallo HM, Arbuthnot P, Auer TO, Berger DK, Burger J, Chakauya E, Concordet JP, Diabate A, Di Donato V, Groenewald JH, Guindo A. Making genome editing a success story in Africa. Nature Biotechnology. 2024;42(4):551-4. https://doi.org/10.1038/s41587-024-02187-2

Chu WS, Ng J, Waddington SN, Kurian MA. Gene therapy for neurotransmitter©\related disorders. Journal of Inherited Metabolic Disease. 2024;47(1):176-91. https://doi.org/10.1002/jimd.12697

Gurung S, Timmermand OV, Perocheau D, Gil-Martinez AL, Minnion M, Touramanidou L, Fang S, Messina M, Khalil Y, Spiewak J, Barber AR. mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria. Science translational medicine. 2024;16(729):eadh1334. https://doi.org/ 10.1126/scitranslmed.adh1334

Lopes FM, Grenier C, Jarvis BW, Al Mahdy S, Lène-McKay A, Gurney AM, Newman WG, Waddington SN, Woolf AS, Roberts NA. Human HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome. Elife. 2024;13:RP91828. https://doi.org/10.7554/eLife.91828.3

Massaro G, Geard AF, Nelvagal HR, Gore K, Clemo NK, Waddington SN, Rahim AA. Comparison of different promoters to improve AAV vector-mediated gene therapy for neuronopathic Gaucher disease. Human Molecular Genetics. 2024 Sep 1;33(17):1467-80. https://doi.org/10.1093/hmg/ddae081

Jacobs, R., Dogbey, M. D., Mnyandu, N., Neves, K., Barth, S., Arbuthnot, P., & Maepa, M. B. AAV immunotoxicity: Implications in anti-HBV gene therapy. Microorganisms. 2023;11(12):2985. https://doi.org/10.3390/microorganisms11122985

Whiteley Z, Massaro G, Gkogkos G, Gavriilidis A, Waddington SN, Rahim AA, Craig DQ. Microfluidic production of nanogels as alternative triple transfection reagents for the manufacture of adeno-associated virus vectors. Nanoscale. 2023;15(12):5865-76. https://doi.org/10.1039/D2NR06401D

Morfopoulou S, Buddle S, Montaguth OE, Atkinson L, Guerra-Assunção JA, Marjaneh MM, et al. Genomic investigations of unexplained acute hepatitis in children. Nature. 2023;30:1-2. https://doi.org/10.1038/s41586-023-06003-w

Ng J, Barral S, Waddington SN, Kurian MA. Gene therapy for dopamine dyshomeostasis: From Parkinson's to primary neurotransmitter diseases. Movement Disorders. 2023. https://doi.org/10.1002/mds.29416

Kairuz D, Samudh N, Ely A, Arbuthnot P, Bloom K. Production, characterization, and assessment of permanently cationic and ionizable lipid nanoparticles for use in the delivery of self-amplifying RNA vaccines. Pharmaceutics. 2023;15(4):1173. https://doi.org/10.3390/pharmaceutics15041173

Kana BD, Arbuthnot P, Botwe BK, Choonara YE, Hassan F, Louzir H, et al. Opportunities and challenges of leveraging COVID-19 vaccine innovation and technologies for developing sustainable vaccine manufacturing capabilities in Africa. Lancet Infectious Diseases. 2023. https://doi.org/10.1016/S1473-3099(22)00878-7

Farhad T, Neves K, Arbuthnot P, Maepa MB. Adenoviral vectors: Potential as anti-HBV vaccines and therapeutics. Genes. 2022;13(11):1941. https://doi.org/10.3390/genes13111941

Samudh N, Shrilall C, Arbuthnot P, Bloom K, Ely A. Diversity of dysregulated long non-coding RNAs in HBV-related hepatocellular carcinoma. Frontiers in Immunology. 2022;13:129. https://doi.org/10.3389/fimmu.2022.834650

Maepa MB, Ely A, Kramvis A, Bloom K, Naidoo K, Simani OE, Maponga TG, Arbuthnot P. Hepatitis B virus research in South Africa. Viruses. 2022;14(9):1939. https://doi.org/10.3390/v14091939

Suleman S, Payne A, Bowden J, Haque SA, Zahn M, Fawaz S, Khalifa MS, et al. HIV-1 lentivirus tethering to the genome is associated with transcription factor binding sites found in genes that favour virus survival. Gene Therapy. 2022;1-10. https://doi.org/10.1038/s41434-022-00335-4

Jacobs R, Singh P, Smith T, Arbuthnot P, Maepa MB. Prospects of viral vector-mediated delivery of sequences encoding anti-HBV designer endonucleases. Gene Therapy. 2022;1-8. https://doi.org/10.1038/s41434-022-00342-5

Kairuz D, Samudh N, Ely A, Arbuthnot P, Bloom K. Advancing mRNA technologies for therapies and vaccines: An African context. Frontiers in Immunology. 2022;13.  https://doi.org/10.3389/fimmu.2022.1018961

Suleman S, Schrubaji K, Filippou C, Ignatova S, Hewitson P, Huddleston J, Karda R, Waddington SN, Themis M. Rapid and inexpensive purification of adenovirus vectors using an optimised aqueous two-phase technology. Journal of Virological Methods. 2022;299:114305. https://doi.org/10.1016/j.jviromet.2021.114305

Smith T, Singh P, Chmielewski KO, Bloom K, Cathomen T, Arbuthnot P, Ely A. Improved specificity and safety of anti-hepatitis B virus TALENs using obligate heterodimeric FokI nuclease domains. Viruses. 2021;13(7):1344. https://doi.org/10.3390/v13071344

Mosti L, Langner LM, Chmielewski KO, Arbuthnot P, Alzubi J, Cathomen T. Targeted multi-epitope switching enables straightforward positive/negative selection of CAR T cells. Gene Therapy. 2021. https://doi.org/10.1038/s41434-021-00220-6. Epub ahead of print.

Maepa MB, Bloom K, Ely A, Arbuthnot P. Hepatitis B virus: promising drug targets and therapeutic implications. Expert Opinion on Therapeutic Targets. 2021:1-16. https://doi.org/10.1080/14728222.2021.1915990. Epub ahead of print.

Singh P, Kairuz D, Arbuthnot P, Bloom K. Silencing hepatitis B virus covalently closed circular DNA: The potential of an epigenetic therapy approach. World Journal of Gastroenterology. 2021;27(23):3182-3207. https://doi.org/10.3748/wjg.v27.i23.3182

Bloom K, van den Berg F, Arbuthnot P. Self-amplifying RNA vaccines for infectious diseases. Gene Therapy. 2021;28:117-129. https://doi.org/10.1038/s41434-020-00204-y

Ng J, Barral S, De La Fuente Barrigon C, Lignani G, Erdem FA, Wallings R, Privolizzi R, Rossignoli G, Alrashidi H, Heasman S, Meyer E, Ngoh A, Pope S, Karda R, Perocheau D, Baruteau J, Suff N, Antinao Diaz J, Schorge S, Vowles J, Marshall LR, Cowley SA, Sucic S, Freissmuth M, Counsell JR, Wade-Martins R, Heales SJR, Rahim AA, Bencze M, Waddington SN, Kurian MA. Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism. Science Translational Medicine. 2021;13(594):eaaw1564. https://doi.org/10.1126/scitranslmed.aaw1564.

Massaro G, Geard AF, Liu W, Coombe-Tennant O, Waddington SN, Baruteau J, Gissen P, Rahim AA. Gene therapy for lysosomal storage disorders: Ongoing studies and clinical development. Biomolecules. 2021;11(4):611. https://doi.org/10.3390/biom11040611

Ely A, Singh P, Smith TS, Arbuthnot P. In vitro transcribed mRNA for expression of designer nucleases: Advantages as a novel therapeutic for the management of chronic HBV infection. Advanced Drug Delivery Reviews. 2021;168:134-146. https://doi.org/10.1016/j.addr.2020.05.010

Ely A, Bloom K, Maepa MB, Arbuthnot P. Recent update on the role of circular RNAs in hepatocellular carcinoma. Journal of Hepatocellular Carcinoma. 2021;8:1-17. https://doi.org/10.2147/JHC.S268291

Counsell JR, De Brabandere G, Karda R, Moore M, Greco A, Bray A, Diaz JA, Perocheau DP, Mock U, Waddington SN. Re-structuring lentiviral vectors to express genomic RNA via cap-dependent translation. Molecular Therapy Methods and Clinical Development. 2021;20:357-365. https://doi.org/10.1016/j.omtm.2020.12.005. eCollection 2021 Mar 12

Soria LR, Gurung S, De Sabbata G, Perocheau DP, De Angelis A, Bruno G, Polishchuk E, Paris D, Cuomo P, Motta A, Orford M, Khalil Y, Eaton S, Mills PB, Waddington SN, Settembre C, Muro AF, Baruteau J, Brunetti-Pierri N. Beclin-1-mediated activation of autophagy improves proximal and distal urea cycle disorders. EMBO Molecular Medicine. 2021;13(2):e13158. https://doi.org/10.15252/emmm.202013158

Van den Berg F, Limani SW, Mnyandu N, Maepa MB, Ely A, Arbuthnot P. Advances with RNAi-based therapy for hepatitis B virus infection. Viruses. 2020;12(8):851. https://doi.org/10.3390/v12080851

Maepa MB, Jacobs R, van den Berg F, Arbuthnot P. Recent developments with advancing gene therapy to treat chronic infection with hepatitis B virus. Current Opinion in HIV and AIDS. 2020;15(3):200-207.  https://doi.org/10.1097/COH.0000000000000623

Van den Berg F, Ely A, Arbuthnot P. Generating DNA expression cassettes encoding multimeric artificial microRNA precursors. Methods in Molecular Biology. 2020;2115:185-197. https://doi.org/10.1007/978-1-0716-0290-4_11

Mnyandu N, Arbuthnot P, Maepa MB. In vivo delivery of cassettes encoding anti-HBV primary microRNAs using an ancestral adeno-associated viral vector. Methods in Molecular Biology. 2020;2115:171-183. https://doi.org/10.1007/978-1-0716-0290-4_10

Sagar R, Almeida-Porada G, Blakemore K, Chan JKY, Choolani M, Götherström C, Jaulent A, MacKenzie TC, Mattar C, Porada CD, Peranteau WH, Schneider H, Shaw SW, Waddington SN, Westgren M, David AL. Fetal and maternal safety considerations for in utero therapy clinical trials: iFeTiS consensus statement. Molecular Therapy. 2020;28(11):2316-2319. https://doi.org/10.1016/j.ymthe.2020.10.012

Diaz JA, Geard A, FitzPatrick LM, Delhove JMK, Buckley SMK, Waddington SN, McKay TR, Karda R. Continual conscious bioluminescent imaging in freely moving mice. Methods in Molecular Biology. 2020;2081:161-175. https://doi.org/10.1007/978-1-4939-9940-8_11

Plotegher N, Perocheau D, Ferrazza R, Massaro G, Bhosale G, Zambon F, Rahim AA, Guella G, Waddington SN, Szabadkai G, Duchen MR. Impaired cellular bioenergetics caused by GBA1 depletion sensitizes neurons to calcium overload. Cell Death & Differentiation. 2020;27(5):1588-1603. https://doi.org/10.1038/s41418-019-0442-2

Massaro G, Hughes MP, Whaler SM, Wallom KL, Priestman DA, Platt FM, Waddington SN, Rahim AA. Systemic AAV9 gene therapy using the synapsin I promoter rescues a mouse model of neuronopathic Gaucher disease but with limited cross-correction potential to astrocytes. Human Molecular Genetics. 2020. https://doi.org/10.1093/hmg/ddz317

Karda R, Rahim AA, Wong AMS, Suff N, Diaz JA, Perocheau DP, Tijani M, Ng J, Baruteau J, Martin NP, Hughes M, Delhove J, Counsell JR, Cooper JD, Henckaerts E, McKay TR, Buckley SMK, Waddington SN. Generation of light-producing somatic-transgenic mice using adeno-associated virus vectors. Scientific Reports. 2020;10(1):2121. https://doi.org/10.1038/s41598-020-59075-3

Suff N, Karda R, Diaz JA, Ng J, Baruteau J, Perocheau D, Taylor PW, Alber D, Buckley SMK, Bajaj-Elliott M, Waddington SN, Peebles D. Cervical gene delivery of the antimicrobial peptide, human beta-defensin (HBD)-3, in a mouse model of ascending infection-related preterm birth. Frontiers in Immunology. 2020;11:106. https://doi.org/10.3389/fimmu.2020.00106

Santos C, Pai YJ, Mahmood MR, Leung KY, Savery D, Waddington SN, Copp AJ, Greene N. Impaired folate 1-carbon metabolism causes formate-preventable hydrocephalus in glycine decarboxylase-deficient mice. Journal of Clinical Investigation. 2020;130(3):1446-1452. https://doi.org/10.1172/JCI132360