Article

iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity

2022-05-13

Abstract excerpt

<h4>ABSTRACT</h4> PACS1 syndrome is a neurodevelopmental disorder characterized by intellectual disability and distinct craniofacial abnormalities resulting from a de novo p.R203W variant in phosphofurin acidic cluster sorting protein 1 (PACS1). PACS1 is known to play roles in the endosomal pathway and nucleus, but how the p.R203W variant affects developing neurons is not understood, leaving patients with few th...

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Literature Corpus work: d749b1d9-9fec-5738-bf93-68efb26c5725
DOI: 10.1101/2022.05.13.491892

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