Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect

BACKGROUND: Geleophysic dysplasia (GPHYSD) is a disorder characterized by dysmorphic features, stiff joints and cardiac involvement due to defects of TGF‐β signaling. GPHYSD can be caused by mutations in FBN1, ADAMTLS2, and LTBP3 genes. METHODS AND RESULTS: Consistent with previous reports, we found...

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Detalles Bibliográficos
Autores principales: Piccolo, Pasquale, Sabatino, Valeria, Mithbaokar, Pratibha, Polishchuk, Elena, Hicks, John, Polishchuk, Roman, Bacino, Carlos A., Brunetti‐Pierri, Nicola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732269/
https://www.ncbi.nlm.nih.gov/pubmed/31350823
http://dx.doi.org/10.1002/mgg3.844

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