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Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
Bérat CM, Montealegre S, Wiedemann A, Nuzum MLC, Blondel A, Debruge H, Cano A, Chabrol B, Hoebeke C, Polak M, Stoupa A, Feillet F, Torre S, Boddaert N, Bruel H, Barth M, Damaj L, Abi-Wardé MT, Afenjar A, Benoist JF, Madrange M, Caccavelli L, Renard P, Hubas A, Nusbaum P, Pontoizeau C, Gobin S, van Endert P, Ottolenghi C, Maltret A, de Lonlay P. Bérat CM, et al. Among authors: debruge h. J Inherit Metab Dis. 2021 Mar;44(2):415-425. doi: 10.1002/jimd.12314. Epub 2020 Sep 28. J Inherit Metab Dis. 2021. PMID: 32929747
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.
Montealegre S, Lebigot E, Debruge H, Romero N, Héron B, Gaignard P, Legendre A, Imbard A, Gobin S, Lacène E, Nusbaum P, Hubas A, Desguerre I, Servais A, Laforêt P, van Endert P, Authier FJ, Gitiaux C, de Lonlay P. Montealegre S, et al. Among authors: debruge h. Neurol Genet. 2022 Jan 19;8(1):e648. doi: 10.1212/NXG.0000000000000648. eCollection 2022 Feb. Neurol Genet. 2022. PMID: 35079622 Free PMC article.
TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning.
de Calbiac H, Montealegre S, Straube M, Renault S, Debruge H, Chentout L, Ciura S, Imbard A, Guillou EL, Marian A, Goudin N, Caccavelli L, Fabrega S, Hubas A, van Endert P, Dupont N, Diana J, Kabashi E, de Lonlay P. de Calbiac H, et al. Among authors: debruge h. Autophagy Rep. 2024 Feb 1;3(1):27694127.2024.2306766. doi: 10.1080/27694127.2024.2306766. eCollection 2024 Dec 31. Autophagy Rep. 2024. PMID: 39722856