Nicolas H. Piguel

Impairment of homeostatic structural plasticity caused by the autism and schizophrenia-associated 16p11.2 duplication

This study investigates the impact of the 16p11.2 duplication on neuronal structure and homeostatic plasticity in a mouse model, finding impaired synaptic upscaling and excessive GluA1 surface abundance.

ASD-ASSOCIATED CNTNAP2 VARIANTS DISRUPT NEURONAL ARBORIZATION THROUGH IMPAIRED REGULATION BY ECTODOMAIN SHEDDING

This study shows that ASD-associated CNTNAP2 variants reduce sCNTNAP2 levels and impair dendritic arborization through disrupted ectodomain shedding.

Palmitoylation controls the stability of 190 kDa Ankyrin-G in dendritic spines and is regulated by ZDHHC8 and lithium.

This study shows that palmitoylation of AnkG-190 stabilizes its localization in dendritic spines, and lithium reduces this modification, affecting its function and interaction with PSD-95.

Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub

This study identifies PRRT2 as a key hub in an epilepsy network disrupted by 16p11.2 duplication and shows its correction rescues multiple neuropsychiatric and seizure-related phenotypes in mice.

Multiple genes in cis mediate the effects of a single chromatin accessibility variant on aberrant synaptic development and function in human neurons

The paper identifies multiple genes in cis regulated by a chromatin accessibility variant that contribute to synaptic dysfunction in human neurons associated with schizophrenia.

Disruption of The Psychiatric Risk Gene Ankyrin 3 Enhances Microtubule Dynamics Through GSK3/CRMP2 Signaling

This study shows that disrupting the ANK3 gene in mice affects microtubule dynamics via GSK3/CRMP2 signaling, linking it to psychiatric illness mechanisms.