Identification of potential non-invasive biomarkers in diastrophic dysplasia

Diastrophic dysplasia (DTD) is a recessive chondrodysplasia caused by pathogenic variants in the SLC26A2 gene encoding for a cell membrane sulfate/chloride antiporter crucial for sulfate uptake and glycosaminoglycan (GAG) sulfation. Research on a DTD animal model has suggested possible pharmacologic...

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Veröffentlicht in:	Bone (New York, N.Y.) N.Y.), 2023-10, Vol.175, p.116838, Article 116838
Hauptverfasser:	Paganini, Chiara, Carroll, Ricki S., Gramegna Tota, Chiara, Schelhaas, Andrea J., Leone, Alessandra, Duker, Angela L., O'Connell, David A., Coghlan, Ryan F., Johnstone, Brian, Ferreira, Carlos R., Peressini, Sabrina, Albertini, Riccardo, Forlino, Antonella, Bonafé, Luisa, Campos-Xavier, Ana Belinda, Superti-Furga, Andrea, Zankl, Andreas, Rossi, Antonio, Bober, Michael B.
Format:	Artikel
Sprache:	eng
Schlagworte:	Achondroplasia Animals Anion Transport Proteins - genetics Biomarker Biomarkers Collagen - metabolism Collagen X Diastrophic dysplasia Dwarfism Glycosaminoglycan Glycosaminoglycans Sulfate Transporters Sulfates - metabolism Sulfation Urine
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