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Article

Activity-dependent neuroprotective protein deficiency models synaptic and developmental phenotypes of autism-like syndrome.

The Journal of clinical investigation - 1 Nov 2018

Hacohen-Kleiman Gal, Sragovich Shlomo, Karmon Gidon, Gao Andy Y L, Grigg Iris, Pasmanik-Chor Metsada, Le Albert, Korenková Vlasta, McKinney R Anne, Gozes Illana

Abstract excerpt

Previous findings showed that in mice, complete knockout of activity-dependent neuroprotective protein (ADNP) abolishes brain formation, while haploinsufficiency (Adnp+/-) causes cognitive impairments. We hypothesized that mutations in ADNP lead to a developmental/autistic syndrome in children. Indeed, recent phenotypic characterization of children harboring ADNP mutations (ADNP syndrome children) revealed global...

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Identifiers

PMID: 30106381
DOI: 10.1172/JCI98199
PMCID: PMC6205398

Genes

ADNP

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

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