Research in our laboratory focuses on the identification and characterization of molecular and metabolic defects in inherited and acquired forms of neurodegenerative diseases affecting either neurons/axons, myelinating glial cells or interactions between these two partners.
Our expertise in neuron/glial biology and in genetics/genomics allowed us to establish an integrative research pipeline including experimental approaches aiming at the identification of disease genes, functional assessment of the pathogenicity of the identified mutations and in vitro and in vivo evaluation of the relevance of the identified genes (or pathways) for neural system physiology and disease. In an effort to translate our results into potential clinical applications we are using various developed disease models to test new therapeutic strategies.
Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy.
Schiza N, Georgiou E, Kagiava A, Médard JJ, Richter J, Tryfonos C, et al
Brain 2019 May;142(5):1227-1241
PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis.
Bartesaghi L, Wang Y, Fontanet P, Wanderoy S, Berger F, Wu H, et al
Cell Rep 2019 Mar;26(13):3484-3492.e4
Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy.
Bernard-Marissal N, van Hameren G, Juneja M, Pellegrino C, Louhivuori L, Bartesaghi L, et al
Proc. Natl. Acad. Sci. U.S.A. 2019 02;116(6):2328-2337
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schöneborn S, et al
EMBO J. 2018 Dec;37(23):
Oligodendroglial myelination requires astrocyte-derived lipids.
Camargo N, Goudriaan A, van Deijk AF, Otte WM, Brouwers JF, Lodder H, et al
PLoS Biol. 2017 05;15(5):e1002605
Transcriptional regulator PRDM12 is essential for human pain perception.
Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, et al
Nat. Genet. 2015 Jul;47(7):803-8
Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration.
Bernard-Marissal N, Médard JJ, Azzedine H, Chrast R
Brain 2015 Apr;138(Pt 4):875-90