Article
Cell-type specific defects in PTEN-mutant cortical organoids converge on abnormal circuit activity.
Human molecular genetics - 5 Sept 2023
Pigoni Martina, Uzquiano Ana, Paulsen Bruna, Kedaigle Amanda J, Yang Sung Min, Symvoulidis Panagiotis, Adiconis Xian, Velasco Silvia, Sartore Rafaela, Kim Kwanho, Tucewicz Ashley, Tropp Sarah Yoshimi, Tsafou Kalliopi, Jin Xin, Barrett Lindy, Chen Fei, Boyden Edward S, Regev Aviv, Levin Joshua Z, Arlotta Paola
Abstract excerpt
De novo heterozygous loss-of-function mutations in phosphatase and tensin homolog (PTEN) are strongly associated with autism spectrum disorders; however, it is unclear how heterozygous mutations in this gene affect different cell types during human brain development and how these effects vary across individuals. Here, we used human cortical organoids from different donors to identify cell-type specific...
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