Article

Patient iPSC-Derived Cartilage Organoids Reveal Defective ECM Deposition and Altered Chondrogenic Trajectory in Saul-Wilson Syndrome

2026-04-14

Abstract excerpt

<h4>Summary</h4> Saul-Wilson syndrome (SWS) is a skeletal dysplasia characterized by primordial dwarfism and progeroid features caused by a recurrent dominant COG4 variant (p.G516R). We previously showed that this mutation accelerates Golgi retrograde trafficking and disrupts glycosylation of the proteoglycan decorin, while zebrafish models revealed defects in chondrocyte elongation and intercalation. We have als...

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Literature Corpus work: 3afb098b-bad0-53bc-9341-2d00f2e0f167
DOI: 10.64898/2026.04.10.717608

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Patient iPSC-Derived Cartilage Organoids Reveal Defective ECM Deposition and Altered Chondrogenic Trajectory in Saul-Wilson SyndromeDOI 10.64898/2026.04.10.717608Read

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