Sil1-deficient fibroblasts generate an aberrant extracellular matrix leading to tendon disorganisation in Marinesco-Sjögren syndrome

Abstract Background Marinesco-Sjögren syndrome (MSS) is an autosomal recessive neuromuscular disorder that arises in early childhood and is characterized by congenital cataracts, myopathy associated with muscle weakness, and degeneration of Purkinje neurons leading to ataxia. About 60% of MSS patien...

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Bibliographic Details
Main Authors: Laura Amodei, Anna Giulia Ruggieri, Francesca Potenza, Marianna Viele, Beatrice Dufrusine, Raffaella Franciotti, Laura Pietrangelo, Matteo Ardini, Liborio Stuppia, Luca Federici, Vincenzo De Laurenzi, Michele Sallese
Format: Article
Language:English
Published: BMC 2024-08-01
Series:Journal of Translational Medicine
Subjects:
Online Access:https://doi.org/10.1186/s12967-024-05582-0