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Article

Matrix disruptions, growth, and degradation of cartilage with impaired sulfation.

The Journal of biological chemistry - 22 Jun 2012

Mertz Edward L, Facchini Marcella, Pham Anna T, Gualeni Benedetta, De Leonardis Fabio, Rossi Antonio, Forlino Antonella

Abstract excerpt

Diastrophic dysplasia (DTD) is an incurable recessive chondrodysplasia caused by mutations in the SLC26A2 transporter responsible for sulfate uptake by chondrocytes. The mutations cause undersulfation of glycosaminoglycans in cartilage. Studies of dtd mice with a knock-in Slc26a2 mutation showed...

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Share to Anion Transport Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22556422
DOI: 10.1074/jbc.M110.116467
PMCID: PMC3381162

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22556422-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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