Head: Geneviève Gourdon
Several years ago, we created a transgenic mouse model (DMSXL) carrying very large human genomic sequences containing the DMPK gene and the largest CTG repeat introduced in mice so far (>1500CTG). These mice show a very high level of CTG repeat instability and reproduce molecular and physiological feature of DM1.
Our research follows 3 axes:
. Mechanisms involved in trinucleotide repeat instability from mouse & cell models to DM1 families
. Molecular and physio-pathological consequences of CTG repeat expansions behind the neuropsychological impairment and brain abnormalities and involved in the congenital form of the disease
. Preclinical testing in DM1 mice muscle & brain molecular and physiological phenotypes
Group members
Geneviève GOURDON, PhD, DR-Inserm, Group leader
Mario GOMES-PEREIRA, PhD, DR-Inserm
Stéphanie TOME, PhD, CR-Inserm
Aline HUGUET-LACHON IE, University
Grégoire HAOUY, Post-Doc
Gabriele ORDAZZO, Post-Doc
Guillaume DIOP, AI, CDD Inserm
Alexandre GARDIOL, Apprentice
Laure de PONTUAL, PhD student
Paul MAGNERON, PhD student
Pauline MEGALLI, PhD student
Louison DAUSSY, Master 2
Ilenia DI ELEUTORIO, Master 2
Contact : genevieve.gourdon@inserm.fr
Our last publications
- [Nanopore and telomeres]. Tomé S. Med Sci (Paris). 2023 Nov;39 Hors série n° 1:64. doi: 10.1051/medsci/2023141. Epub 2023 Nov 17. PMID: 37975773 French. No abstract available.
- Electrophysiological basis of cardiac arrhythmia in a mouse model of myotonic dystrophy type 1. Ginjupalli VKM, Cupelli M, Reisqs JB, Sleiman Y, El-Sherif N, Gourdon G, Puymirat J, Chahine M, Boutjdir M. Front Physiol. 2023 Sep 21;14:1257682. doi: 10.3389/fphys.2023.1257682. eCollection 2023. PMID: 37811496
- Therapeutic Targeting of the GSK3β-CUGBP1 Pathway in Myotonic Dystrophy. Lutz M, Levanti M, Karns R, Gourdon G, Lindquist D, Timchenko NA, Timchenko L. Int J Mol Sci. 2023 Jun 26;24(13):10650. doi: 10.3390/ijms241310650. PMID: 37445828
- Excessive rest time during active phase is reliably detected in a mouse model of myotonic dystrophy type 1 using home cage monitoring. Golini E, Rigamonti M, Raspa M, Scavizzi F, Falcone G, Gourdon G, Mandillo S. Front Behav Neurosci. 2023 Mar 2;17:1130055. doi: 10.3389/fnbeh.2023.1130055. eCollection 2023. PMID: 36935893.
- Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1. Nguyen CDL, Jimenez-Moreno AC, Merker M, Bowers CJ, Nikolenko N, Hentschel A, Müntefering T, Isham A, Ruck T, Vorgerd M, Dobelmann V, Gourdon G, Schara-Schmidt U, Gangfuss A, Schröder C, Sickmann A, Gross C, Gorman G, Stenzel W, Kollipara L, Hathazi D, Spendiff S, Gagnon C, Preusse C, Duchesne E, Lochmüller H, Roos A. J Neurol. 2023 Jun;270(6):3138-3158. doi: 10.1007/s00415-023-11633-1. Epub 2023 Mar 9. PMID: 36892629
- MBNL-dependent impaired development within the neuromuscular system in myotonic dystrophy type 1. Tahraoui-Bories J, Mérien A, González-Barriga A, Lainé J, Leteur C, Polvèche H, Carteron A, De Lamotte JD, Nicoleau C, Polentes J, Jarrige M, Gomes-Pereira M, Ventre E, Poydenot P, Furling D, Schaeffer L, Legay C, Martinat C. Neuropathol Appl Neurobiol. 2023 Feb;49(1):e12876. doi: 10.1111/nan.12876. PMID: 36575942.