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Author

R. Caumes

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Open access Sep 2026

5q31 duplications encompassing PURA are associated with a neurodevelopmental disorder.

It is demonstrated that PURA overexpression impairs neuronal morphology in vitro, inducing a reduction in dendritic arborization and in dendritic spine density, and RNA Sequencing revealed dysregulated expression of various genes involved in human pathology, especially in neurodevelopmental disorders characterized by i...

Laurine Challeat, Solène Remize, T. Alouane et al. · 0 citations
Aug 2026

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

An integrative study combining Mendelian genetics, clinical and association studies, and animal and molecular modeling supports variants in ELAVL2 as a cause of a neurodevelopmental disorder, with haploinsufficiency as the disease mechanism, and identifies crucial roles of ELAVL2 in neuronal function, cognition, and be...

Marina Boon, Meghan R. Mulligan, Jolijn J. A. Verseput et al. · 0 citations

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