Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome
Jérémie Courraud, Camille Engel, Angélique Quartier, Nathalie Drouot, Ursula Houessou, Damien Plassard, Arthur Sorlin, Elise Brischoux‐Boucher, Evan Gouy, Lionel Van Maldergem, Massimiliano Rossi, Gaëtan Lesca, Patrick Edery, Audrey Putoux, Frédéric Bilan, , Amélie Piton
This study investigates the molecular consequences of PQBP1 deficiency in Renpenning syndrome by analyzing gene expression and protein interactions, identifying dysregulated genes and a novel UPF3B isoform.
Molecular Psychiatry · Nov 29, 2023Peer-reviewedGenetics