ArticleProceedings of the National Academy of Sciences of the United States of America2005
Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 66 citations in OpenAlex.
- From Development, Disease, and Decline: A Review of What Defines an Osteoclast Progenitor.International journal of molecular sciences · 2025Review
- BHLHE40 promotes osteoclastogenesis and abnormal bone resorption via c-Fos/NFATc1.Cell & bioscience · 2022Article
- Alterations in Hematopoietic and Mesenchymal Stromal Cell Components of the Osteopetrotic Bone Marrow Niche.Stem cells translational medicine · 2022Article
- Experimental and clinical progress of in utero hematopoietic cell transplantation therapy for congenital disorders.Frontiers in pharmacology · 2022Review
- Autosomal recessive osteopetrosis: mechanisms and treatments.Disease models & mechanisms · 2021Review
- Gene therapy for infantile malignant osteopetrosis: review of pre-clinical research and proof-of-concept for phenotypic reversal.Molecular therapy. Methods & clinical development · 2021Review
- Ostm1 from Mouse to Human: Insights into Osteoclast Maturation.International journal of molecular sciences · 2020Review
- Generation of an immunodeficient mouse model of tcirg1-deficient autosomal recessive osteopetrosis.Bone reports · 2020Article
- Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia.Journal of the Endocrine Society · 2020Article
- Article
- One Disease, Many Genes: Implications for the Treatment of Osteopetroses.Frontiers in endocrinology · 2019Review
- In Utero Stem Cell Transplantation: Potential Therapeutic Application for Muscle Diseases.Stem cells international · 2017Review
- Article
- Osteopetrosis: genetics, treatment and new insights into osteoclast function.Nature reviews. Endocrinology · 2013Review
- Osteoclasts promote the formation of hematopoietic stem cell niches in the bone marrow.The Journal of experimental medicine · 2012Article
- Osteoclast activity modulates B-cell development in the bone marrow.Cell research · 2011Article
- The vacuolar-ATPase modulates matrix metalloproteinase isoforms in human pancreatic cancer.Laboratory investigation; a journal of technical methods and pathology · 2011Article
- Article
- Fetal liver cells transplanted in utero rescue the osteopetrotic phenotype in the oc/oc mouse.The American journal of pathology · 2009Article
- Osteopetrosis.Orphanet journal of rare diseases · 2009Review
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Authors and funding
17 authors at 3 institutions in 1 country.
Funding
Abstract
Autosomal recessive osteopetrosis (ARO) is a paradigm for genetic diseases that cause severe, often irreversible, defects before birth. In ARO, osteoclasts cannot remove mineralized cartilage, bone marrow is severely reduced, and bone cannot be remodeled for growth. More than 50% of the patients show defects in the osteoclastic vacuolar-proton-pump subunit, ATP6a3. We treated ATP6a3-deficient mice by in utero heterologous hematopoietic stem cell (HSC) transplant from outbred GFP transgenic mice. Dramatic phenotype rescue by GFP osteoclasts was obtained with engraftment, which was observed in most cases. Engraftment survived for variable periods. Recipients were not immunosuppressed, and graft-versus-host disease was not observed in all pups born after in utero treatment. Thus, differentiation of unmatched HSC transplanted in utero is sufficient to prevent fatal defects in ARO and may prevent complications of ARO unresponsive to conventional bone marrow transplantation. The presence of defective cells is not a barrier to the rescue of the phenotype by donor HSC.
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