Jean‐Louis Mandel

Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome

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.

Systematic analysis and prediction of genes associated with disorders on chromosome X

The paper systematically analyzes chrX genes to predict disease associations, identifying 235 genes likely involved in disorders and reporting damaging variants in CDK16 and TRPC5 in patients with intellectual disability or autism.

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

The paper reclassifies DYRK1A variants using an integrative approach, showing some previously reported pathogenic variants do not cause obvious phenotypes.

AAV-delivery of diacylglycerol kinase kappa achieves long-term rescue of Fmr1-KO mouse model deficits of fragile X syndrome

AAV-delivered FMRP-independent DGKk corrects brain lipid homeostasis and behavioral deficits in Fmr1-KO mice.

Pioglitazone improves deficits of Fmr1-KO mouse model of Fragile X syndrome by interfering with excessive diacylglycerol signaling

This study shows pioglitazone reduces excessive diacylglycerol signaling in Fmr1-KO mice, improving behavioral deficits associated with Fragile X syndrome.

Highly clustered de novo frameshift variants in the neuronal splicing factor NOVA2 result in a specific abnormal C terminal part and cause a severe form of intellectual disability with autistic features.

The paper identifies de novo frameshift variants in NOVA2 causing a severe neurodevelopmental disorder with intellectual disability and autistic features, and shows altered RNA splicing and functional deficits.

Sex-specific impact of prenatal androgens on intrinsic functional connectivity between social brain default mode subsystems

The paper investigates how prenatal androgens affect functional connectivity in social brain networks, finding sex-specific impacts on adolescent males.