911±¬ÁÏÍø

The Baruteau group studies the mechanisms of inherited metabolic diseases and develops dedicated novel therapies for patients affected by these disorders. The main projects are:

Urea Cycle Defects and Arginine Metabolism

The liver-based urea cycle is an essential metabolic pathway, which detoxifies ammonia, an essential neurotoxic compound, produced by the breakdown of proteins. Impaired urea cycle can alter the synthesis of arginine, a substrate for important metabolites such as nitric oxide (NO), creatine and polyamines, are involved in neurotransmission, cellular energy, gene regulation.

We have a long-standing interest in studying argininosuccinic aciduria, the second most common urea cycle disorder caused by deficient argininosuccinate lyase enzyme. We study the clinical phenotype of the disease, the pathophysiology of the disease in different organs using cell and molecular biology and develop novel therapies.

Gene therapy in inherited metabolic diseases

We develop liver and brain targeting gene therapies for inherited metabolic diseases, with both viral (AAV, lentiviral vectors) and non-viral (lipid nanoparticles, exosomes) approaches. Julien Baruteau is the principal investigator in gene therapy clinical trials at Great Ormond Street Hospital for Children. The close links between UCL Great Ormond Street Institute of Child Health and the hospital enable to translate some gene therapy programmes to patients affected by these genetic metabolic diseases.

Developing innovative non-invasive molecular imaging

We explore the pathophysiology of inherited metabolic diseases with novel imaging techniques such as positron emission tomography or specific magnetic resonance imaging sequences. We aim to translate these findings to patients to monitor their disease progression and as efficacy endpoints for novel therapies.

Collaborators

• ±Ê°ù´Ç´Ú±ð²õ²õ´Ç°ùÌý, UCL Great Ormond Street Insitute of Child Health
• Professor , UCL Institute of Neurology, London, UK
• Professor , UCL EGA Institute for Women’s Health, London, UK
• Professor , UCL School of Pharmacy
• Doctor , UCL Institute of Neurology, London, UK
• Doctor , King’s College University, London, UK
• Professor , Southampton University, Southampton, UK
• Professor , Children Medical Research Institute, Westmead, Australia
• Professor , TIGEM, Naples, Italy
• Professor , Weizmann Institute of Science, Rehovot, Israel

Funders

Publications

2024

• Duff C, Islam M, Gagliano O, Pramod H, Rashidi H, Kurian MA, Gissen P, Baruteau J.Stem Cell Res.Ìý2024 Apr;76:103365.Ìýdoi: 10.1016/j.scr.2024.103365.ÌýEpub 2024 Feb 28.ÌýPubMed PMID: 38422816.Ìý
• Gurung S, Timmermand OV, Perocheau D, Gil-Martinez AL, Minnion M, Touramanidou L, Fang S, Messina M, Khalil Y, Spiewak J, Barber AR, Edwards RS, Pinto PL, Finn PF, Cavedon A, Siddiqui S, Rice L, Martini PGV, Ridout D, Heywood W, Hargreaves I, Heales S, Mills PB, Waddington SN, Gissen P, Eaton S, Ryten M, Feelisch M, Frassetto A, Witney TH, Baruteau J.ÌýSci Transl Med.Ìý2024 Jan 10;16(729):eadh1334.Ìýdoi: 10.1126/scitranslmed.adh1334.ÌýEpub 2024 Jan 10.ÌýPubMed PMID: 38198573; PubMed Central PMCID: PMC7615535.Ìý
• Baruteau J, Brunetti-Pierri N, Gissen P.ÌýJ Inherit Metab Dis.Ìý2024 Jan;47(1):9-21.Ìýdoi: 10.1002/jimd.12709.ÌýEpub 2024 Jan 3.ÌýReview.ÌýPubMed PMID: 38171926.Ìý
• Duff C, Alexander IE, Baruteau J.ÌýJ Inherit Metab Dis.Ìý2024 Jan;47(1):50-62.Ìýdoi: 10.1002/jimd.12609.ÌýEpub 2023 Apr 18.ÌýReview.ÌýPubMed PMID: 37026568; PubMed Central PMCID: PMC10953416.Ìý
• Bernhardt I, Van Dorp L, Dixon M, McSweeney M, Gan C, Baruteau J, Chakrapani A.JIMD Rep.Ìý2024 Jan;65(1):10-16.Ìýdoi: 10.1002/jmd2.12405.ÌýeCollection 2024 Jan.ÌýPubMed PMID: 38186850; PubMed Central PMCID: PMC10764197.Ìý
• Baruteau J, Keshavan N, Venditti CP.ÌýJ Inherit Metab Dis.Ìý2024 Jan;47(1):5-6.Ìýdoi: 10.1002/jimd.12708.ÌýPubMed PMID: 38221761.Ìý

2023

• Perocheau D, Gurung S, Touramanidou L, Duff C, Sharma G, Sebire N, Finn PF, Cavedon A, Siddiqui S, Rice L, Martini PGV, Frassetto A, Baruteau J.ÌýF1000Res.Ìý2023;12:1580.Ìýdoi: 10.12688/f1000research.142014.2.ÌýeCollection 2023.ÌýPubMed PMID: 38618017; PubMed Central PMCID: PMC11016166
• Gurung S, Karamched S, Perocheau D, Seunarine KK, Baldwin T, Alrashidi H, Touramanidou L, Duff C, Elkhateeb N, Stepien KM, Sharma R, Morris A, Hartley T, Crowther L, Grunewald S, Cleary M, Mundy H, Chakrapani A, Batzios S, Davison J, Footitt E, Tuschl K, Lachmann R, Murphy E, Santra S, Uudelepp ML, Yeo M, Finn PF, Cavedon A, Siddiqui S, Rice L, Martini PGV, Frassetto A, Heales S, Mills PB, Gissen P, Clayden JD, Clark CA, Eaton S, Kalber TL, Baruteau J.ÌýJ Inherit Metab Dis.Ìý2023 Dec 4;.Ìýdoi: 10.1002/jimd.12691.Ìý[Epub ahead of print]ÌýPubMed PMID: 38044746.Ìý
• Seker Yilmaz B, Baruteau J, Chakrapani A, Champion M, Chronopoulou E, Claridge LC, Daly A, Davies C, Davison J, Dhawan A, Grunewald S, Gupte GL, Heaton N, Lemonde H, McKiernan P, Mills P, Morris AAM, Mundy H, Pierre G, Rajwal S, Sivananthan S, Sreekantam S, Stepien KM, Vara R, Yeo M, Gissen P.ÌýMol Genet Metab Rep.Ìý2023 Dec;37:101020.Ìýdoi: 10.1016/j.ymgmr.2023.101020.ÌýeCollection 2023 Dec.ÌýPubMed PMID: 38053940; PubMed Central PMCID: PMC10694733.Ìý
• Cunningham SC, van Dijk EB, Zhu E, Sugden M, Mandwie M, Siew S, Devanapalli B, Tolun AA, Klein A, Wilson L, Aryamanesh N, Gissen P, Baruteau J, Bhattacharya K, Alexander IE.ÌýHum Gene Ther.Ìý2023 Sep;34(17-18):917-926.Ìýdoi: 10.1089/hum.2023.011.ÌýEpub 2023 Sep 11.ÌýPubMed PMID: 37350098.Ìý
• Yeo M, Rehsi P, Dorman M, Grunewald S, Baruteau J, Chakrapani A, Footitt E, Prunty H, McSweeney M.ÌýJIMD Rep.Ìý2023 Sep;64(5):317-326.Ìýdoi: 10.1002/jmd2.12386.ÌýeCollection 2023 Sep.ÌýPubMed PMID: 37701329; PubMed Central PMCID: PMC10494499.Ìý
• Touramanidou L, Gurung S, Cosmezcu CA, Perocheau DP, Moulding D, Ridout D, Cavedon A, Siddiqui S, Rice L, Finn PF, Martini PG, Frassetto A, Waddington SN, Counsell JR, Gissen P, Baruteau J.ÌýMacrophage inhibitor clodronate enhances liver transduction of lentiviral but not AAV vectors or mRNA lipid nanoparticles in vivo.ÌýBioRxiv.Ìý2023 July.Ìý
• Whitehouse A, Rehsi P, Hartley L, Grunewald S, Yilmaz BS, Pegoretti Baruteau K, Yaman A, Thavagnanam S, Baruteau J.ÌýJIMD Rep.Ìý2023 Jul;64(4):274-281.Ìýdoi: 10.1002/jmd2.12375.ÌýeCollection 2023 Jul.ÌýPubMed PMID: 37404677; PubMed Central PMCID: PMC10315379.Ìý
• Elkhateeb N, Olivieri G, Siri B, Boyd S, Stepien KM, Sharma R, Morris AAM, Hartley T, Crowther L, Grunewald S, Cleary M, Mundy H, Chakrapani A, Lachmann R, Murphy E, Santra S, Uudelepp ML, Yeo M, Bernhardt I, Sudakhar S, Chan A, Mills P, Ridout D, Gissen P, Dionisi-Vici C, Baruteau J.ÌýEpilepsia.Ìý2023 Jun;64(6):1612-1626.Ìýdoi: 10.1111/epi.17596.ÌýEpub 2023 Apr 10.ÌýPubMed PMID: 36994644.Ìý
• Westhaus A, Cabanes-Creus M, Dilworth KL, Zhu E, Salas Gómez D, Navarro RG, Amaya AK, Scott S, Kwiatek M, McCorkindale AL, Hayman TE, Frahm S, Perocheau DP, Tran BM, Vincan E, Wong SL, Waters SA, Riddiough GE, Perini MV, Wilson LOW, Baruteau J, Diecke S, González-Aseguinolaza G, Santilli G, Thrasher AJ, Alexander IE, Lisowski L.ÌýHum Gene Ther.Ìý2023 Apr;34(7-8):273-288.Ìýdoi: 10.1089/hum.2022.188.ÌýPubMed PMID: 36927149; PubMed Central PMCID: PMC10150726.Ìý

2022

• Seker Yilmaz B, Baruteau J, Arslan N, Aydin HI, Barth M, Bozaci AE, Brassier A, Canda E, Cano A, Chronopoulou E, Connolly GM, Damaj L, Dawson C, Dobbelaere D, Douillard C, Eminoglu FT, Erdol S, Ersoy M, Fang S, Feillet F, Gokcay G, Goksoy E, Gorce M, Inci A, Kadioglu B, Kardas F, Kasapkara CS, Kilic Yildirim G, Kor D, Kose M, Marelli C, Mundy H, O'Sullivan S, Ozturk Hismi B, Ramachandran R, Roubertie A, Sanlilar M, Schiff M, Sreekantam S, Stepien KM, Uzun Unal O, Yildiz Y, Zubarioglu T, Gissen P.ÌýLife (Basel).Ìý2022 Oct 27;12(11).Ìýdoi: 10.3390/life12111721.ÌýPubMed PMID: 36362876; PubMed Central PMCID: PMC9695856.Ìý
• Elangovan R, Baruteau J.ÌýFront Pharmacol.Ìý2022;13:972468.Ìýdoi: 10.3389/fphar.2022.972468.ÌýeCollection 2022.ÌýReview.ÌýPubMed PMID: 36249776; PubMed Central PMCID: PMC9559827.Ìý
• Duff C, Baruteau J.ÌýNPJ Regen Med.Ìý2022 Sep 26;7(1):56.Ìýdoi: 10.1038/s41536-022-00252-5.ÌýReview.ÌýPubMed PMID: 36163209; PubMed Central PMCID: PMC9513077.Ìý
• Tebani A, Sudrié-Arnaud B, Dabaj I, Torre S, Domitille L, Snanoudj S, Heron B, Levade T, Caillaud C, Vergnaud S, Saugier-Veber P, Coutant S, Dranguet H, Froissart R, Al Khouri M, Alembik Y, Baruteau J, Arnoux JB, Brassier A, Brehin AC, Busa T, Cano A, Chabrol B, Coubes C, Desguerre I, Doco-Fenzy M, Drenou B, Elcioglu NH, Elsayed S, Fouilhoux A, Poirsier C, Goldenberg A, Jouvencel P, Kuster A, Labarthe F, Lazaro L, Pichard S, Rivera S, Roche S, Roggerone S, Roubertie A, Sigaudy S, Spodenkiewicz M, Tardieu M, Vanhulle C, Marret S, Bekri S.ÌýJ Med Genet.Ìý2022 Apr;59(4):377-384.Ìýdoi: 10.1136/jmedgenet-2020-107510.ÌýEpub 2021 Mar 18.ÌýPubMed PMID: 33737400.Ìý
• Yeo M, Rehsi P, Dorman M, Grunewald S, Baruteau J, Chakrapani A, Footitt E, Prunty H, McSweeney M.ÌýJIMD Rep.Ìý2022 Mar;63(2):137-145.Ìýdoi: 10.1002/jmd2.12274.ÌýeCollection 2022 Mar.ÌýPubMed PMID: 35281661; PubMed Central PMCID: PMC8898712.Ìý

2021

• Baruteau J, Cunningham SC, Yilmaz BS, Perocheau DP, Eaglestone S, Burke D, Thrasher AJ, Waddington SN, Lisowski L, Alexander IE, Gissen P.ÌýMol Ther Methods Clin Dev.Ìý2021 Dec 10;23:135-146.Ìýdoi: 10.1016/j.omtm.2021.09.005.ÌýeCollection 2021 Dec 10.ÌýPubMed PMID: 34703837; PubMed Central PMCID: PMC8517016.Ìý
• van Wegberg AMJ, Trefz F, Gizewska M, Ahmed S, Chabraoui L, Zaki MS, Maillot F, van Spronsen FJ.ÌýJ Pediatr.Ìý2021 Dec;239:231-234.e2.Ìýdoi: 10.1016/j.jpeds.2021.08.070.ÌýEpub 2021 Aug 30.ÌýPubMed PMID: 34474089.Ìý
• Lerner S, Eilam R, Adler L, Baruteau J, Kreiser T, Tsoory M, Brandis A, Mehlman T, Ryten M, Botia JA, Ruiz SG, Garcia AC, Dionisi-Vici C, Ranucci G, Spada M, Mazkereth R, McCarter R, Izem R, Balmat TJ, Richesson R, Gazit E, Nagamani SCS, Erez A.ÌýHum Genet.Ìý2021 Oct;140(10):1471-1485.Ìýdoi: 10.1007/s00439-021-02345-5.ÌýEpub 2021 Aug 21.ÌýPubMed PMID: 34417872; PubMed Central PMCID: PMC8460544.Ìý
• Perocheau D, Touramanidou L, Gurung S, Gissen P, Baruteau J.ÌýBr J Pharmacol.Ìý2021 Jun;178(12):2375-2392.Ìýdoi: 10.1111/bph.15432.ÌýEpub 2021 May 3.ÌýReview.ÌýPubMed PMID: 33751579; PubMed Central PMCID: PMC8432553.Ìý
• 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.ÌýSci Transl Med.Ìý2021 May 19;13(594).Ìýdoi: 10.1126/scitranslmed.aaw1564.ÌýPubMed PMID: 34011628; PubMed Central PMCID: PMC7612279.Ìý
• Gurung S, Perocheau D, Touramanidou L, Baruteau J.ÌýCell Commun Signal.Ìý2021 Apr 23;19(1):47.Ìýdoi: 10.1186/s12964-021-00730-1.ÌýReview.ÌýPubMed PMID: 33892745; PubMed Central PMCID: PMC8063428.Ìý
• Massaro G, Geard AF, Liu W, Coombe-Tennant O, Waddington SN, Baruteau J, Gissen P, Rahim AA.ÌýBiomolecules.Ìý2021 Apr 20;11(4).Ìýdoi: 10.3390/biom11040611.ÌýReview.ÌýPubMed PMID: 33924076; PubMed Central PMCID: PMC8074255.Ìý
• 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.ÌýEMBO Mol Med.Ìý2021 Feb 5;13(2):e13158.Ìýdoi: 10.15252/emmm.202013158.ÌýEpub 2020 Dec 28.ÌýPubMed PMID: 33369168; PubMed Central PMCID: PMC7863400.Ìý
• Seker Yilmaz B, Davison J, Jones SA, Baruteau J.ÌýJ Inherit Metab Dis.Ìý2021 Jan;44(1):129-147.Ìýdoi: 10.1002/jimd.12316.ÌýEpub 2020 Sep 28.ÌýReview.ÌýPubMed PMID: 32944950; PubMed Central PMCID: PMC8436764.Ìý

2020

• Uggenti C, Lepelley A, Depp M, Badrock AP, Rodero MP, El-Daher MT, Rice GI, Dhir S, Wheeler AP, Dhir A, Albawardi W, Frémond ML, Seabra L, Doig J, Blair N, Martin-Niclos MJ, Della Mina E, Rubio-Roldán A, García-Pérez JL, Sproul D, Rehwinkel J, Hertzog J, Boland-Auge A, Olaso R, Deleuze JF, Baruteau J, Brochard K, Buckley J, Cavallera V, Cereda C, De Waele LMH, Dobbie A, Doummar D, Elmslie F, Koch-Hogrebe M, Kumar R, Lamb K, Livingston JH, Majumdar A, Lorenço CM, Orcesi S, Peudenier S, Rostasy K, Salmon CA, Scott C, Tonduti D, Touati G, Valente M, van der Linden H Jr, Van Esch H, Vermelle M, Webb K, Jackson AP, Reijns MAM, Gilbert N, Crow YJ.ÌýNat Genet.Ìý2020 Dec;52(12):1364-1372.Ìýdoi: 10.1038/s41588-020-00737-3.ÌýEpub 2020 Nov 23.ÌýPubMed PMID: 33230297.Ìý
• Yilmaz BS, Gurung S, Perocheau D, Counsell J, Baruteau J.ÌýJ Mother Child.Ìý2020 Nov 10;24(2):53-64.Ìýdoi: 10.34763/jmotherandchild.20202402si.2004.000009.ÌýReview.ÌýPubMed PMID: 33554501; PubMed Central PMCID: PMC8518100.