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Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein

Archive ouverte | Kretz, Perrine | CCSD

International audience. Background: Using mouse genetic studies and systematic assessments of brain neuroanatomical phenotypes, we set out to identify which of the 30 genes causes brain defects at the autism-associa...

WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy

Archive ouverte | Kannan, Meghna | CCSD

International audience. The family of WD40-repeat (WDR) proteins is one of the largest in eukaryotes, but little is known about their function in brain development. Among 26 WDR genes assessed, we found 7 displaying...

Targeting of NAT10 enhances healthspan in a mouse model of human accelerated aging syndrome

Archive ouverte | Balmus, Gabriel | CCSD

International audience. Abstract Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, but devastating genetic disease characterized by segmental premature aging, with cardiovascular disease being the main cause of...

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