Presentation
Specific aims are
- To identify new molecular determinants of PD, including genes, modifiers of progression or response to treatment and non-coding genetic elements accounting for cell-specific effects
- To explore pathways to disease, with a focus on PINK1/Parkin dysregulation and its impact on neuronal vulnerability to stress and immune cell function
- To use new findings to develop clinical-genetic models for predictive/precision medicine.
Major publications
- Lesage S, Lunati A, Houot M, Romdhan SB, Clot F, Tesson C, Mangone G,
Toullec BL, Courtin T, Larcher K, et al., French Parkinson disease Genetics
Study Group (PDG). Characterization of recessive Parkinson’s disease in a
large multicenter study. Ann Neurol. 2020. - Jacoupy M, Hamon-Keromen E, Ordureau A, Erpapazoglou Z, Coge F,
Corvol JC, Nosjean O, Mannoury la Cour C, Millan MJ, et al., The PINK1
kinase-driven ubiquitin ligase Parkin promotes mitochondrial protein
import through the presequence pathway in living cells. Sci Rep. 2019,
9(1):11829. - Gendron J, Colace-Sauty C, Beaume N, Cartonnet H, Guegan J, Ulveling
D, Pardanaud-Glavieux C, Moszer I, Cheval H, Ravassard P. Long
non-coding RNA repertoire and open chromatin regions constitute
midbrain dopaminergic neuron-specific molecular signatures. Sci Rep
2019, 9(1):1409. - Mouton-Liger F, Rosazza T, Sepulveda-Diaz J, Ieang A, Hassoun SM,
Claire E, Mangone G, Brice A, Michel PP, Corvol JC, Corti O. Parkin
deficiency modulates NLRP3 inflammasome activation by attenuating an
A20-dependent negative feedback loop. Glia 2018, 66(8):1736-1751. - Corvol JC, Artaud F, Cormier-Dequaire F, Rascol O, Durif F, Derkinderen
P, Marques AR, Bourdain F, Brandel JP, Pico F, et al., for the DIGPD study
group. Longitudinal analysis of impulse control disorders in Parkinson’s
disease. Neurology 2018, 91(3):e189-e20 - Tesson C, Brefel-Courbon C, Corvol JC, Lesage S, Brice A; French
Parkinson’s Disease Genetics Study Group. LRP10 in alpha-synucleiopathies. Lancet Neurol (Letter) 2018, 17(12):1034. - Cormier-Dequaire F., Bekadar S., Anheim M., Lebbah S., Pelissolo A.,
Krack P., Lacomblez L., Lhommée E., Castroto A., Azulay J.P., , BADGE-PD
study group. Suggestive association between OPRM1 and impulse control
disorders in Parkinson’s disease. Mov Disord 2018, 33(12):1878-1886. - Gautier CA, Erpapazoglou Z, Mouton-Liger F, Muriel MP, Cormier F, Bigou S,
Duffaure S, Girard M, Foret B, Iannielli A, et al. The endoplasmic reticulummitochondria interface is perturbed in PARK2 knockout mice and patients
with PARK2 mutations. Hum Mol Genet. 2016, 25(14):2972-2984. - Lesage S., Drouet V., Majounie E., Deramecourt V., Jacoupy M., Nicolas A.,
Cormier- Dequaire F., Hassoun S. M., Pujol C., et al., Loss of VPS1 3C
Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial
Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. Am J
Hum Genet 2016, 98(3), 500-513. - Bertolin G., Fournier M., Traver S., Ferrando-Miguel R., Saint Georges T.,
Grenier K. Ardila-Osorio H., Muriel M. P., Takahashi H., Lees A.J., et al.,
Gautier C., Guedin D., Parkin maintains mitochondrial levels of the
protective Parkinson’s disease-related enzyme 17-beta hydroxysteroid
dehydrogenase type 10. Cell Death Differ 2015, 22(10), 1563-1576.
