Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered matrix organisation and upregulation of the cholesterol biosynthesis pathway
Our model revealed mutant matrilin-3 induces cholesterol biosynthesis pathway upregulation and abnormal matrix assembly during MED pathogenesis. This study provides new insights into the molecular mechanisms underlying MED and highlights potential therapeutic targets.
Authors
- Paul A. Humphreys (ORCID: https://orcid.org/0000-0002-1833-4864)
- Ian J. Donaldson (ORCID: https://orcid.org/0000-0002-0032-0931)
- Witchayapon Kamprom (ORCID: https://orcid.org/0009-0003-5685-2878)
- K. S. Chandler (ORCID: https://orcid.org/0000-0001-7791-9195)
- Antony D. Adamson (ORCID: https://orcid.org/0000-0002-5408-0013)
- Stuart A. Cain (ORCID: https://orcid.org/0000-0001-8417-1058)
- Geert R. Mortier (ORCID: https://orcid.org/0000-0001-9871-4578)
- Nicola Bates (ORCID: https://orcid.org/0000-0001-5875-548X)
- Peter Harley (ORCID: https://orcid.org/0000-0001-6689-0227)
- Brenda Aguero Burgos
- Steven Woods
- Aleksandr Mironov
- Clair Baldock
- Jean-Marc Schwartz
- Rayed Ali A. Alqahtani
- Susan J Kimber
- Anna Nicolaou
- Fabrizio E Mancini
Institutions
- Manchester Academic Health Science Centre (GB)
- Wellcome Centre for Cell-Matrix Research (GB)
- University of Manchester (GB)
- Manchester University NHS Foundation Trust (GB)
- Center for Human Genetics (US)
- Donaldson (United States) (US)
- KU Leuven (BE)
Publication Details
- Journal
- Osteoarthritis and Cartilage
- Published
- 2026-02-01
- DOI
- https://doi.org/10.1016/j.joca.2026.01.633
- Primary Topic
- Cholesterol and Lipid Metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.00