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Molecular and functional profiling distinguishes PACS1 syndrome variant from PACS1 loss-of-function in iNeurons

2026-08-28

Abstract excerpt

PACS1 syndrome is a rare neurodevelopmental disorder caused by a recurrent de novo missense variant (p.R203W) in the PACS1 protein. However, it remains unclear whether the p.R203W variant acts through a loss-of-function or alternative mechanism. Here, we used isogenic iPSC-derived neurons (iNs) to directly compare the effects of PACS1 p.R203W to complete loss of PACS1 function. Using a combination of proteomic, bi...

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Literature Corpus work: 68d5893f-ea8e-5384-b113-c8114b089355
DOI: 10.64898/2026.08.25.747101

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Molecular and functional profiling distinguishes PACS1 syndrome variant from PACS1 loss-of-function in iNeuronsDOI 10.64898/2026.08.25.747101Read

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