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Harlequin mice exhibit cognitive impairment, severe loss of Purkinje cells and a compromised bioenergetic status due to the absence of Apoptosis Inducing Factor.
Cwerman-Thibault H, Malko-Baverel V, Le Guilloux G, Torres-Cuevas I, Ratcliffe E, Mouri D, Mignon V, Saubaméa B, Boespflug-Tanguy O, Gressens P, Corral-Debrinski M. Cwerman-Thibault H, et al. Among authors: malko baverel v. Biochim Biophys Acta Mol Basis Dis. 2024 Oct;1870(7):167272. doi: 10.1016/j.bbadis.2024.167272. Epub 2024 Jun 17. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 38897257
Neuroglobin overexpression in cerebellar neurons of Harlequin mice improves mitochondrial homeostasis and reduces ataxic behavior.
Cwerman-Thibault H, Malko-Baverel V, Le Guilloux G, Ratcliffe E, Mouri D, Torres-Cuevas I, Millán I, Saubaméa B, Mignon V, Boespflug-Tanguy O, Gressens P, Corral-Debrinski M. Cwerman-Thibault H, et al. Among authors: malko baverel v. Mol Ther. 2024 Jul 3;32(7):2150-2175. doi: 10.1016/j.ymthe.2024.05.030. Epub 2024 May 24. Mol Ther. 2024. PMID: 38796706 Free article.
Neuroglobin effectively halts vision loss in Harlequin mice at an advanced stage of optic nerve degeneration.
Cwerman-Thibault H, Lechauve C, Malko-Baverel V, Augustin S, Le Guilloux G, Reboussin É, Degardin-Chicaud J, Simonutti M, Debeir T, Corral-Debrinski M. Cwerman-Thibault H, et al. Among authors: malko baverel v. Neurobiol Dis. 2021 Nov;159:105483. doi: 10.1016/j.nbd.2021.105483. Epub 2021 Aug 14. Neurobiol Dis. 2021. PMID: 34400304 Free article.