Article

MOPD I patient-derived cerebral organoids model microcephaly showing premature neurogenesis due to disrupted mitotic spindle orientation

2022-12-29

Abstract excerpt

Mutations in the single-copy RNU4ATAC gene, which encodes U4atac snRNA of the minor spliceosome are linked to the developmental disorder microcephalic osteodysplastic primordial dwarfism type I (MOPD I). Partial loss-of-function mutations of U4atac snRNA lead to a poor prognosis, with less than three year survival. The most prominent characteristic of MOPD I is disrupted central nervous system development resultin...

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Literature Corpus work: 0d254f74-4755-5c94-84a2-654f1686714f
DOI: 10.1101/2022.12.29.520610

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