Molecular psychiatry
Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro.
Florence Desprez, Solène Remize, Liberty François-Moutal, Dévina C Ung, Audrey Dangoumau, Sylviane Marouillat, Joanna Kennedy, Karen J Low, Camille Kumps, Sheila Unger, Boris Keren, Jean-Madeleine de Sainte Agathe, Céline Poirsier, Ghayda M Mirzaa, Kimberly A Aldinger
Published: 202510.1038/s41380-025-03364-8
Abstract
Neurodevelopmental disorders (NDD) with brain malformations have recently been associated with de novo variants in the DPYSL5 gene, which encodes a member of the dihydropyrimidinase-like proteins family. Here, we aimed to understand its role in NDD b…
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