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Committed osteoclast precursors colonize the bone and improve the phenotype of a mouse model of autosomal recessive osteopetrosis

  1. Alfredo Cappariello1,
  2. Anna Concetta Berardi1,
  3. Barbara Peruzzi2,
  4. Andrea Del Fattore2,
  5. Alberto Ugazio1,
  6. Gian Franco Bottazzo1,
  7. Anna Teti2,*

Article first published online: 14 DEC 2009

DOI: 10.1359/jbmr.090715

Issue

Journal of Bone and Mineral Research

Journal of Bone and Mineral Research

Volume 25, Issue 1, pages 106–113, January 2010

Additional Information

How to Cite

Cappariello, A., Berardi, A. C., Peruzzi, B., Del Fattore, A., Ugazio, A., Bottazzo, G. F. and Teti, A. (2010), Committed osteoclast precursors colonize the bone and improve the phenotype of a mouse model of autosomal recessive osteopetrosis. J Bone Miner Res, 25: 106–113. doi: 10.1359/jbmr.090715

Author Information

  1. 1

    Ospedale Pediatrico Bambino Gesù, Rome, Italy

  2. 2

    Università dell'Aquila, L'Aquila, Italy

*Department of Experimental Medicine, Via Vetoio 10 – Coppito 2, 67100 L'Aquila, Italy.

Publication History

  1. Issue published online: 20 JAN 2010
  2. Article first published online: 14 DEC 2009
  3. Manuscript Accepted: 6 JUL 2009
  4. Manuscript Revised: 16 APR 2009
  5. Manuscript Received: 18 NOV 2008

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References

  • 1
    Hadjidakis DJ, Androulakis II. Bone remodeling. Ann NY Acad Sci. 2006; 1092: 385–396.
    Direct Link:
  • 2
    Teitelbaum SL, Ross FP. Genetic regulation of osteoclast development and function. Nat Rev Genet. 2003; 4: 638–649.
  • 3
    Frattini A, Orchard PJ, Sobacchi C, et al. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet. 2000; 25: 343–346.
  • 4
    Kornak U, Kasper D, Bösl MR, et al. Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell. 2001; 104: 205–215.
  • 5
    Chalhoub N, Benachenhou N, Rajapurohitam V, et al. Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. Nature Med. 2003; 9: 399–406.
  • 6
    Sly WS, Hu PY. The carbonic anhydrase II deficiency syndrome: osteopetrosis with renal tubular acidosis and cerebral calcification. In: ScriverCR, BeaudetAL, SlyWS, ValleD, eds. The Metabolic and Molecular Bases of Inherited Diseases. 8th ed. New York: McGraw-Hill; 2001: 4113–4124.
  • 7
    Sobacchi C, Frattini A, Guerrini MM, et al. Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. Nat Genet. 2007; 39: 960–962.
  • 8
    Guerrini MM, Sobacchi C, Cassani B, et al. Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. Am J Hum Genet. 2008; 83: 64–76.
  • 9
    Whyte MP. Osteopetrosis. In: RoycePM, SteinamannB, eds. Connective Tissue and Its Heritable Disorders: Medical, Genetic and Molecular Aspects. 2nd ed. New York: Wiley-Liss; 2002: 753–770.
  • 10
    Balemans W, Van Wesenbeeck L, Van Hul W. A clinical and molecular overview of the human osteopetroses. Calcif Tissue Int. 2005; 77: 263–274.
  • 11
    Del Fattore A, Cappariello A, Teti A. Genetics, pathogenesis and complications of osteopetrosis. Bone. 2008; 42: 19–29.
  • 12
    Kaplan FS, August CS, Fallon MD, Dalinka M, Axel L, Haddad JG. Successful treatment of infantile malignant osteopetrosis by bone-marrow transplantation: a case report. J Bone Joint Surg. 1988; 70A: 617–623.
  • 13
    Driessen GJ, Gerritsen EJ, Fischer A, et al. Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report. Bone Merrow Transplant. 2003; 32: 657–663.
  • 14
    Cheow HK, Steward CG, Grier DJ. Imaging of malignant infantile osteopetrosis before and after bone marrow transplantation. Pediatr Radiol. 2001; 31: 869–975.
  • 15
    Caselli G, Mantovanini M, Gandolfi CA, et al. Tartronates: a new generation of drugs affecting bone metabolism. J Bone Miner Res. 1997; 12: 972–981.
    Direct Link:
  • 16
    Del Fattore A, Peruzzi B, Rucci N, et al. Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment. J Med Genet. 2006; 43: 315–325.
  • 17
    Del Fattore A, Fornari R, Van Wesenbeeck L, et al. 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. J Bone Miner Res. 2008; 23: 380–391.
    Direct Link:
  • 18
    Rucci N, Recchia I, Angelucci A, et al. Inhibition of protein kinase c-Src reduces the incidence of breast cancer metastases and increases survival in mice: implications for therapy. J Pharmacol Exp Ther. 2006; 318: 161–172.
  • 19
    Traggiai E, Chicha L, Mazzucchelli L, et al. Development of a human adaptive immune system in cord blood cell-transplanted mice. Science. 2004; 304: 104–107.
  • 20
    Hofbauer LC, Kühne CA, Viereck V. The OPG/RANKL/RANK system in metabolic bone diseases. J Musculoskelet Neuronal Interact. 2004; 4: 268–275.
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