Article

Elevated <em>MMP9</em> Expression – a Potential <em>In Vitro</em> Biomarker for COMPopathies

2025-11-12

Abstract excerpt

The intracellular retention of misfolded extracellular matrix proteins is a common disease mechanism in various individually rare skeletal diseases. This discovery has driven the study of ER-stress and the unfolded protein response (UPR) as a promising therapeutic target in several skeletal dysplasias. In the case of COL10A1 mutations, targeting the UPR resulted in a clinical trial of the repurposed drug carbamaze...

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Literature Corpus work: 658f1a17-3091-566c-b149-834c44a7ada2
DOI: 10.20944/preprints202511.0814.v1

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