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Pathophysiological mechanisms involved in Fragile-X syndrome

Pathophysiological mechanisms involved in Fragile-X syndrome

SUBGROUP LEADER

Herve MOINE

Pathophysiological mechanisms and therapeutic approaches for fragile X syndrome

  • Characterize and understand the physiopathological mechanisms involved in Fragile-X syndrome using cellular and murine models (Fmrp, Dgkk)
  • Preclinical trials of innovative therapeutic approaches for fragile X syndrome

Using cellular models as well as in vivo approaches with mouse models (KO or using AAV for inactivation or expression of mutant proteins), we investigate more deeply the mechanisms by which the lack of the RNA binding protein FMRP, involved in posttranscriptional regulation, leads to Fragile-X syndrome (the most frequent monogenic cause of ID). We notably identified that the mRNA encoding the diacylglycerol kinase kappa (DGKK) is a main mRNA target of FMRP and we are currently testing DGKK as a therapeutic target for the Fragile-X syndrome, in collaboration with Lysogene.