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Article

Improvement of the skeletal phenotype in a mouse model of diastrophic dysplasia after postnatal treatment with N-acetylcysteine.

Biochemical pharmacology - 1 Mar 2021

Paganini Chiara, Gramegna Tota Chiara, Monti Luca, Monti Ilaria, Maurizi Antonio, Capulli Mattia, Bourmaud Morgane, Teti Anna, Cohen-Solal Martine, Villani Simona, Forlino Antonella, Superti-Furga Andrea, Rossi Antonio

Abstract excerpt

Diastrophic dysplasia (DTD) is a recessive chondrodysplasia caused by mutations in the SLC26A2 gene encoding for a sulfate/chloride transporter. When SLC26A2 is impaired intracellular level of sulfate is reduced leading to the synthesis of undersulfated proteoglycans. In normal chondrocytes, the main source of intracellular sulfate is the extracellular uptake through SLC26A2, but a small amount comes from the...

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PMID: 33545117
DOI: 10.1016/j.bcp.2021.114452

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Improvement of the skeletal phenotype in a mouse model of diastrophic dysplasia after postnatal treatment with N-acetylcysteine.PMID 33545117Read ↗

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