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Article

Trisomy 21 induces pericentrosomal crowding delaying primary ciliogenesis and mouse cerebellar development

7 Dec 2022

Abstract excerpt

Trisomy 21, the genetic cause of Down syndrome, disrupts primary cilia formation and function, in part through elevated Pericentrin, a centrosome protein encoded on chromosome 21. Yet how trisomy 21 and elevated Pericentrin disrupt cilia-related molecules and pathways, and the in vivo phenotypic relevance remain unclear. Utilizing ciliogenesis time course experiments combined with light microscopy and electron...

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PMID: 36656118
DOI: 10.7554/elife.78202

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