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Article

Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study.

Molecular psychiatry - 1 May 2021

Ivashko-Pachima Yanina, Hadar Adva, Grigg Iris, Korenková Vlasta, Kapitansky Oxana, Karmon Gidon, Gershovits Michael, Sayas C Laura, Kooy R Frank, Attems Johannes, Gurwitz David, Gozes Illana

Abstract excerpt

With Alzheimer's disease (AD) exhibiting reduced ability of neural stem cell renewal, we hypothesized that de novo mutations controlling embryonic development, in the form of brain somatic mutations instigate the disease. A leading gene presenting heterozygous dominant de novo autism-intellectual disabilities (ID) causing mutations is activity-dependent neuroprotective protein (ADNP), with intact ADNP protecting...

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Identifiers

PMID: 31664177
DOI: 10.1038/s41380-019-0563-5
PMCID: PMC8159740

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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