Generation of an immunodeficient mouse model of tcirg1-deficient autosomal recessive osteopetrosis

Background: Autosomal recessive osteopetrosis is a rare skeletal disorder with increased bone density due to a failure in osteoclast bone resorption. In most cases, the defect is cell-autonomous, and >50% of patients bear mutations in the TCIRG1 gene, encoding for a subunit of the vacuolar proton...

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Main Authors: Eleonora Palagano, Sharon Muggeo, Laura Crisafulli, Irina L. Tourkova, Dario Strina, Stefano Mantero, Elena Fontana, Silvia L. Locatelli, Marta Monari, Emanuela Morenghi, Carmelo Carlo-Stella, John B. Barnett, Harry C. Blair, Paolo Vezzoni, Anna Villa, Cristina Sobacchi, Francesca Ficara
Format: Article
Language:English
Published: Elsevier 2020-06-01
Series:Bone Reports
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Online Access:http://www.sciencedirect.com/science/article/pii/S2352187220300012