Dans le cadre des séminaires que propose Genopole, Pascale Dupuis-Williams, responsable de l’ATIGE "Centrioles et pathologies associées", présentera « La génomique fonctionnelle des maladies ciliaires »
[+] Abstract :
Cilia are eukaryotic organelles whose structure and functions in motility and sensation are conserved from unicellular organisms to human. The importance of those organelles has recently come into focus with the discovery that various human genetic syndromes, such as polycystic kidney disease, Bardet-Biedl, Meckel or Joubert syndromes, characterized by the association of developmental defects in central nervous system, polydactily, impaired liver and kidney homeostasis, cardiopathies, obesity, are caused by the loss of ciliary functions.
Proteomic analysis of the basal body/cilium complex and the genetic characterization of human syndromes identified numerous new proteins that are evolutionary conserved but whose cellular functions remain to be elucidated.
Taking advantage of a eukaryotic unicellular ciliated model organism, Paramecium, our research group tries to identify new proteins involved in ciliogenesis and to determine their cellular function and role in physiopathology.
[+] A partir de 12H, salle de conférence - Genopole Siège - Evry
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