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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Váldodahkkit: 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
Materiálatiipa: Artihkal
Giella:English
Almmustuhtton: BMC 2024-08-01
Ráidu:Journal of Translational Medicine
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Liŋkkat:https://doi.org/10.1186/s12967-024-05582-0