Article
Modeling primary microcephaly with human brain organoids reveals fundamental roles of CIT kinase activity.
The Journal of clinical investigation - 1 Nov 2024
Pallavicini Gianmarco, Moccia Amanda, Iegiani Giorgia, Parolisi Roberta, Peirent Emily R, Berto Gaia Elena, Lorenzati Martina, Tshuva Rami Y, Ferraro Alessia, Balzac Fiorella, Turco Emilia, Salvi Shachi U, Myklebust Hedvig F, Wang Sophia, Eisenberg Julia, Chitale Maushmi, Girgla Navjit S, Boda Enrica, Reiner Orly, Buffo Annalisa, Di Cunto Ferdinando, Bielas Stephanie L
Abstract excerpt
Brain size and cellular heterogeneity are tightly regulated by species-specific proliferation and differentiation of multipotent neural progenitor cells (NPCs). Errors in this process are among the mechanisms of primary hereditary microcephaly (MCPH), a group of disorders characterized by reduced brain size and intellectual disability. Biallelic citron rho-interacting serine/threonine kinase (CIT) missense...
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