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

Abstract 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, w...

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Autors principals:	Pasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, Elena Polishchuk, John Hicks, Roman Polishchuk, Carlos A. Bacino, Nicola Brunetti‐Pierri
Format:	Artigo
Idioma:	Inglês
Publicat:	Wiley 2019-09-01
Col·lecció:	Molecular Genetics & Genomic Medicine
Matèries:	extracellular matrix geleophysic dysplasia intracytoplasmic inclusions losartan
Accés en línia:	https://doi.org/10.1002/mgg3.844
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