Article
Osteopetrorickets due to Snx10 deficiency in mice results from both failed osteoclast activity and loss of gastric acid-dependent calcium absorption.
PLoS genetics - 1 Mar 2015
Ye Liang, Morse Leslie R, Zhang Li, Sasaki Hajime, Mills Jason C, Odgren Paul R, Sibbel Greg, Stanley James R L, Wong Gee, Zamarioli Ariane, Battaglino Ricardo A
Abstract excerpt
Mutations in sorting nexin 10 (Snx10) have recently been found to account for roughly 4% of all human malignant osteopetrosis, some of them fatal. To study the disease pathogenesis, we investigated the expression of Snx10 and created mouse models in which Snx10 was knocked down globally or knocked out in osteoclasts. Endocytosis is severely defective in Snx10-deficient osteoclasts, as is extracellular...
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