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Article

Sexual dimorphism of AMBRA1-related autistic features in human and mouse.

Translational psychiatry - 10 Oct 2017

Mitjans M, Begemann M, Ju A, Dere E, Wüstefeld L, Hofer S, Hassouna I, Balkenhol J, Oliveira B, van der Auwera S, Tammer R, Hammerschmidt K, Völzke H, Homuth G, Cecconi F, Chowdhury K, Grabe H, Frahm J, Boretius S, Dandekar T, Ehrenreich H

Abstract excerpt

Ambra1 is linked to autophagy and neurodevelopment. Heterozygous Ambra1 deficiency induces autism-like behavior in a sexually dimorphic manner. Extraordinarily, autistic features are seen in female mice only, combined with stronger Ambra1 protein reduction in brain compared to males. However, significance of AMBRA1 for autistic phenotypes in humans and, apart from behavior, for other autism-typical features,...

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Share to Adaptor Proteins, Signal Transducing
Share to Autism Spectrum Disorder

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28994820
DOI: 10.1038/tp.2017.213
PMCID: PMC5682605

Genes

AMBRA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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