Exploring the molecular and morpho-functional differences in a knock-in model of Fragile X syndrome
Isabel Chato Astrain, Gwenola Poupon, Jesús Chato-Astrain, Iliona Lacagne, Sophie Serrière, Clovis Tauber, Sylvie Bodard, Julie Busson, Aurélie Lampin-Saint-Amaux, Pablo Molle, Quentin Lebel, Marta Prieto, Marie Pronot, Alessandra Folci, Yann Humeau, Frédéric Laumonnier, Laurent Galineau, Stéphane Martin · FENS Forum 2024
Fragile X syndrome (FXS) is the most common inherited form of Intellectual Disability and a leading monogenic cause of autism. FXS results from mutations within the FMR1 gene causing the loss-of-function of the RNA-binding Fragile X Messenger RibonucleoProtein (FMRP). FMRP transports mRNAs along dendrites toward the base of active synapses for their activity-dependent translation. In FXS, the loss-of-function of FMRP leads to a hyper-abundance of dendritic protrusions. Several FMR1 missense mutations identified in patients also lead FXS but how these mutations affect the function of FMRP and l
ePoster · Neuroscience