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Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient.
Leclerc D, Goujon L, Jaillard S, Nouyou B, Cluzeau L, Damaj L, Dubourg C, Etcheverry A, Levade T, Froissart R, Dréano S, Guillory X, Eriksson LA, Launay E, Mouriaux F, Belaud-Rotureau MA, Odent S, Gilot D. Leclerc D, et al. Among authors: levade t. CRISPR J. 2023 Feb;6(1):17-31. doi: 10.1089/crispr.2022.0045. Epub 2023 Jan 11. CRISPR J. 2023. PMID: 36629845 Free PMC article.
Cerebrotendinous xanthomatosis: a literature review and case study.
Matta A, Ory Magne F, Levade T, Bonneville F, Ferrières J. Matta A, et al. Among authors: levade t. Front Cardiovasc Med. 2024 Dec 9;11:1496442. doi: 10.3389/fcvm.2024.1496442. eCollection 2024. Front Cardiovasc Med. 2024. PMID: 39717439 Free PMC article. Review.
Ceramide metabolism alterations contribute to Tumor Necrosis Factor-induced melanoma dedifferentiation and predict resistance to immune checkpoint inhibitors in advanced melanoma patients.
Dufau C, Genais M, Mucher E, Jung B, Garcia V, Montfort A, Tosolini M, Clarke CJ, Medin JA, Levade T, Delord JP, Meyer N, Pancaldi V, Andrieu-Abadie N, Ségui B. Dufau C, et al. Among authors: levade t. Front Immunol. 2024 Jul 29;15:1421432. doi: 10.3389/fimmu.2024.1421432. eCollection 2024. Front Immunol. 2024. PMID: 39136013 Free PMC article.
Acid sphingomyelinase deficiency in France: a retrospective survival study.
Mauhin W, Guffon N, Vanier MT, Froissart R, Cano A, Douillard C, Lavigne C, Héron B, Belmatoug N, Uzunhan Y, Lacombe D, Levade T, Duvivier A, Pulikottil-Jacob R, Laredo F, Pichard S, Lidove O; ASSUR Study Group. Mauhin W, et al. Among authors: levade t. Orphanet J Rare Dis. 2024 Aug 5;19(1):289. doi: 10.1186/s13023-024-03234-6. Orphanet J Rare Dis. 2024. PMID: 39103853 Free PMC article.
Secondary deficiency of neuraminidase 1 contributes to CNS pathology in neurological mucopolysaccharidoses via hypersialylation of brain glycoproteins.
Xu T, Heon-Roberts R, Moore T, Dubot P, Pan X, Guo T, Cairo CW, Holley R, Bigger B, Durcan TM, Levade T, Ausseil J, Amilhon B, Gorelik A, Nagar B, Sturiale L, Palmigiano A, Röckle I, Thiesler H, Hildebrandt H, Garozzo D, Pshezhetsky AV. Xu T, et al. Among authors: levade t. bioRxiv [Preprint]. 2024 Apr 27:2024.04.26.587986. doi: 10.1101/2024.04.26.587986. bioRxiv. 2024. PMID: 38712143 Free PMC article. Preprint.
Human genetic defects of sphingolipid synthesis.
Dubot P, Sabourdy F, Levade T. Dubot P, et al. Among authors: levade t. J Inherit Metab Dis. 2025 Jan;48(1):e12745. doi: 10.1002/jimd.12745. Epub 2024 May 5. J Inherit Metab Dis. 2025. PMID: 38706107 Free PMC article. Review.
Adiponectin overexpression improves metabolic abnormalities caused by acid ceramidase deficiency but does not prolong lifespan in a mouse model of Farber Disease.
Norris MK, Tippetts TS, Wilkerson JL, Nicholson RJ, Maschek JA, Levade T, Medin JA, Summers SA, Holland WL. Norris MK, et al. Among authors: levade t. Mol Genet Metab Rep. 2024 Apr 3;39:101077. doi: 10.1016/j.ymgmr.2024.101077. eCollection 2024 Jun. Mol Genet Metab Rep. 2024. PMID: 38595987 Free PMC article.
299 results