Deciphering the PURA syndrome: loss of PURA alters neural cell fate decisions and impairs neuronal homeostasis

ABSTRACT: PURA syndrome is a rare neurodevelopmental disorder caused by heterozygous de novo mutations in the PURA gene, leading to intellectual disability, hypotonia, and epilepsy. While the molecular functions of PURA have been partially elucidated, its role in human neural development remains unclear. We used PURA-knockout (KO) human induced pluripotent stem cells (iPSCs) and isogenic controls to generate 2D neural progenitor cultures and 3D cerebral organoids.Transcriptomic profiling identified PURA-regulated RNAs critical for early neuronal development.

ORGANISM(S): Homo sapiens

PROVIDER: GSE323991 | GEO | 2026/03/15

REPOSITORIES: GEO