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A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts.
Del Fattore A, Fornari R, Van Wesenbeeck L, de Freitas F, Timmermans JP, Peruzzi B, Cappariello A, Rucci N, Spera G, Helfrich MH, Van Hul W, Migliaccio S, Teti A. Del Fattore A, et al. J Bone Miner Res. 2008 Mar;23(3):380-91. doi: 10.1359/jbmr.071107. J Bone Miner Res. 2008. PMID: 17997709 Free article.
Osteoclast receptors and signaling.
Del Fattore A, Teti A, Rucci N. Del Fattore A, et al. Arch Biochem Biophys. 2008 May 15;473(2):147-60. doi: 10.1016/j.abb.2008.01.011. Epub 2008 Jan 24. Arch Biochem Biophys. 2008. PMID: 18237538 Review.
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