Osteopetrosis rescue upon RANKL administration to Rankl(-/-) mice: a new therapy for human RANKL-dependent ARO.

doi:10.1002/jbmr.1712

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Article

Osteopetrosis rescue upon RANKL administration to Rankl(-/-) mice: a new therapy for human RANKL-dependent ARO.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Dec 2012

Lo Iacono Nadia, Blair Harry C, Poliani Pietro L, Marrella Veronica, Ficara Francesca, Cassani Barbara, Facchetti Fabio, Fontana Elena, Guerrini Matteo M, Traggiai Elisabetta, Schena Francesca, Paulis Marianna, Mantero Stefano, Inforzato Antonio, Valaperta Serenella, Pangrazio Alessandra, Crisafulli Laura, Maina Virginia, Kostenuik Paul, Vezzoni Paolo, Villa Anna, Sobacchi Cristina

Abstract excerpt

In the last decades the molecular basis of monogenic diseases has been largely unraveled, although their treatment has often remained unsatisfactory. Autosomal recessive osteopetrosis (ARO) belongs to the small group of genetic diseases that are usually treated with hematopoietic stem cell transplantation (HSCT). However, this approach is not effective in the recently identified form carrying mutations in the...

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PMID: 22836362
DOI: 10.1002/jbmr.1712

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