Article
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Molecular psychiatry - 1 Feb 2024
Courraud Jérémie, Engel Camille, Quartier Angélique, Drouot Nathalie, Houessou Ursula, Plassard Damien, Sorlin Arthur, Brischoux-Boucher Elise, Gouy Evan, Van Maldergem Lionel, Rossi Massimiliano, Lesca Gaetan, Edery Patrick, Putoux Audrey, Bilan Frederic, Gilbert-Dussardier Brigitte, Atallah Isis, Kalscheuer Vera M, Mandel Jean-Louis, Piton Amélie
Abstract excerpt
Mutations in the PQBP1 gene (polyglutamine-binding protein-1) are responsible for a syndromic X-linked form of neurodevelopmental disorder (XL-NDD) with intellectual disability (ID), named Renpenning syndrome. PQBP1 encodes a protein involved in transcriptional and post-transcriptional regulation of gene expression. To investigate the consequences of PQBP1 loss, we used RNA interference to knock-down (KD) PQBP1...
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