Sil1-deficient fibroblasts generate an aberrant extracellular matrix leading to tendon disorganisation in Marinesco-Sjögren syndrome
ECM alterations can affect the proper functioning of several organs, including those damaged in MSS such as the central nervous system, skeletal muscle, bone and lens. On this basis, we propose that aberrant ECM is a key pathological feature of MSS and may help explain most of its clinical manifestations.
Authors
- Beatrice Dufrusine (ORCID: https://orcid.org/0000-0001-7515-9794)
- Vincenzo De Laurenzi (ORCID: https://orcid.org/0000-0002-7506-1743)
- Francesca Potenza
- Anna Giulia Ruggieri (ORCID: https://orcid.org/0000-0003-2815-221X)
- Michele Sallese (ORCID: https://orcid.org/0000-0002-2555-3571)
- Liborio Stuppia (ORCID: https://orcid.org/0000-0002-6232-0996)
- Raffaella Franciotti (ORCID: https://orcid.org/0000-0002-8819-1061)
- Laura Pietrangelo (ORCID: https://orcid.org/0000-0003-1197-7813)
- Matteo Ardini (ORCID: https://orcid.org/0000-0002-9044-3352)
- Luca Federici (ORCID: https://orcid.org/0000-0002-9366-4492)
- Marianna Viele
- Laura Amodei (ORCID: https://orcid.org/0009-0007-8234-6230)
Institutions
- University of Teramo (IT)
- University of L'Aquila (IT)
- University of Chieti-Pescara (IT)
- Innovative Wireless Technologies (United States) (US)
Publication Details
- Journal
- Journal of Translational Medicine
- Published
- 2024-08-23
- DOI
- https://doi.org/10.1186/s12967-024-05582-0
- Citations
- 7
- Primary Topic
- Endoplasmic Reticulum Stress and Disease
- Type
- article
- Field-Weighted Citation Impact
- 2.28
Funders
- European Regional Development Fund