Chondrocytes that accumulate proteoglycans and inorganic pyrophosphate in the pathogenesis of chondrocalcinosis

Association of sporadic chondrocalcinosi

Association of sporadic chondrocalcinosis with a −4-basepair G-to-A transition in the 5′-untranslated region of ANKH that promotes enhanced expression of ANKH protein and excess generation of extracellular inorganic pyrophosphate

✍ Yun Zhang; Kristen Johnson; R. Graham G. Russell; B. Paul Wordsworth; Andrew J. 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 123 KB 👁 2 views

## Abstract ## Objective Certain mutations in __ANKH__, which encodes a multiple‐pass transmembrane protein that regulates inorganic pyrophosphate (PPi) transport, are linked to autosomal‐dominant familial chondrocalcinosis. This study investigated the potential for __ANKH__ sequence variants to p