Article

Cerebral organoids expressing mutant actin genes reveal cellular mechanism underlying microcephaly

2022-12-07

Abstract excerpt

Actins are structural cytoskeletal proteins playing crucial roles in multiple cellular processes. Mutations in the ACTB and ACTG1 genes, encoding the ubiquitous beta- and gamma- cytoskeletal actin isoforms, respectively, cause a broad spectrum of neurodevelopmental disorders, with microcephaly as the most frequent one. Here we used patient-derived cerebral organoids to gain insight into the pathogenesis underlying...

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Literature Corpus work: 76b6e055-3992-516a-8d1e-ea7c266320df
DOI: 10.1101/2022.12.07.519435

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