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Article

Sex-biasing influence of autism-associated Ube3a gene overdosage at connectomic, behavioral, and transcriptomic levels.

Science advances - 12 Jul 2024

Montani Caterina, Balasco Luigi, Pagani Marco, Alvino Filomena Grazia, Barsotti Noemi, de Guzman A Elizabeth, Galbusera Alberto, de Felice Alessia, Nickl-Jockschat Thomas K, Migliarini Sara, Casarosa Simona, Lau Pierre, Mattioni Lorenzo, Pasqualetti Massimo, Provenzano Giovanni, Bozzi Yuri, Lombardo Michael V, Gozzi Alessandro

Abstract excerpt

Genomic mechanisms enhancing risk in males may contribute to sex bias in autism. The ubiquitin protein ligase E3A gene (Ube3a) affects cellular homeostasis via control of protein turnover and by acting as transcriptional coactivator with steroid hormone receptors. Overdosage of Ube3a via duplication or triplication of chromosomal region 15q11-13 causes 1 to 2% of autistic cases. Here, we test the hypothesis that...

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Identifiers

PMID: 38996019
DOI: 10.1126/sciadv.adg1421
PMCID: PMC11244557

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