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Modelling urea cycle disorders using iPSCs.
Duff C, Baruteau J. Duff C, et al. Among authors: baruteau j. NPJ Regen Med. 2022 Sep 26;7(1):56. doi: 10.1038/s41536-022-00252-5. NPJ Regen Med. 2022. PMID: 36163209 Free PMC article. Review.
Beclin-1-mediated activation of autophagy improves proximal and distal urea cycle disorders.
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. Soria LR, et al. Among authors: baruteau j. EMBO Mol Med. 2021 Feb 5;13(2):e13158. doi: 10.15252/emmm.202013158. Epub 2020 Dec 28. EMBO Mol Med. 2021. PMID: 33369168 Free PMC article.
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.
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. Gurung S, et al. Among authors: baruteau j. J Inherit Metab Dis. 2023 Dec 4. doi: 10.1002/jimd.12691. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 38044746
Gene therapy for inherited metabolic diseases.
Yilmaz BS, Gurung S, Perocheau D, Counsell J, Baruteau J. Yilmaz BS, et al. Among authors: baruteau j. J Mother Child. 2020 Nov 10;24(2):53-64. doi: 10.34763/jmotherandchild.20202402si.2004.000009. J Mother Child. 2020. PMID: 33554501 Free PMC article. Review.
Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism.
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. Ng J, et al. Among authors: baruteau j. Sci Transl Med. 2021 May 19;13(594):eaaw1564. doi: 10.1126/scitranslmed.aaw1564. Sci Transl Med. 2021. PMID: 34011628 Free PMC article.
76 results