{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T14:12:13Z","timestamp":1791900733085,"version":"4.3.4"},"reference-count":37,"publisher":"National Academy of Sciences","issue":"41","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2005,10,11]]},"abstract":"<jats:p>\n                    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\n                    <jats:italic>in utero<\/jats:italic>\n                    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\n                    <jats:italic>in utero<\/jats:italic>\n                    treatment. Thus, differentiation of unmatched HSC transplanted\n                    <jats:italic>in utero<\/jats:italic>\n                    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.\n                  <\/jats:p>","DOI":"10.1073\/pnas.0507637102","type":"journal-article","created":{"date-parts":[[2005,9,29]],"date-time":"2005-09-29T20:33:23Z","timestamp":1128026003000},"page":"14629-14634","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":52,"title":["Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation\n                    <i>in utero<\/i>"],"prefix":"10.1073","volume":"102","author":[{"given":"Annalisa","family":"Frattini","sequence":"first","affiliation":[{"name":"Human Genome Department, Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, 20090 Segrate, Milan, Italy; Department of Pathology and of Cell Biology and Physiology, University of Pittsburgh and Veterans Affairs Medical Center, Pittsburgh, PA 15243; Neuroradiology Department, Istituto Nazionale Neurologico \u201cC. Besta,\u201d 20131 Milan, Italy; and Laboratorio di Biologia Molecolare e Genetica Umana, Universit\u00e0 Cattolica del Sacro Cuore, 20123 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harry C.","family":"Blair","sequence":"additional","affiliation":[{"name":"Human Genome Department, Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, 20090 Segrate, Milan, Italy; Department of Pathology and of Cell Biology and Physiology, University of Pittsburgh and Veterans Affairs Medical Center, Pittsburgh, PA 15243; Neuroradiology Department, Istituto Nazionale Neurologico \u201cC. Besta,\u201d 20131 Milan, Italy; and Laboratorio di Biologia Molecolare e Genetica Umana, Universit\u00e0 Cattolica del Sacro Cuore, 20123 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Grazia","family":"Sacco","sequence":"additional","affiliation":[{"name":"Human Genome Department, Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, 20090 Segrate, Milan, Italy; Department of Pathology and of Cell Biology and Physiology, University of Pittsburgh and Veterans Affairs Medical Center, Pittsburgh, PA 15243; Neuroradiology Department, Istituto Nazionale Neurologico \u201cC. Besta,\u201d 20131 Milan, Italy; and Laboratorio di Biologia Molecolare e Genetica Umana, Universit\u00e0 Cattolica del Sacro Cuore, 20123 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Cerisoli","sequence":"additional","affiliation":[{"name":"Human Genome Department, Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, 20090 Segrate, Milan, Italy; Department of Pathology and of Cell Biology and Physiology, University of Pittsburgh and Veterans Affairs Medical Center, Pittsburgh, PA 15243; Neuroradiology Department, Istituto Nazionale Neurologico \u201cC. Besta,\u201d 20131 Milan, Italy; and Laboratorio di Biologia Molecolare e Genetica Umana, Universit\u00e0 Cattolica del Sacro Cuore, 20123 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Faggioli","sequence":"additional","affiliation":[{"name":"Human Genome Department, Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, 20090 Segrate, Milan, Italy; Department of Pathology and of Cell Biology and Physiology, University of Pittsburgh and Veterans Affairs Medical Center, Pittsburgh, PA 15243; Neuroradiology Department, Istituto Nazionale Neurologico \u201cC. Besta,\u201d 20131 Milan, Italy; and Laboratorio di Biologia Molecolare e Genetica Umana, Universit\u00e0 Cattolica del Sacro Cuore, 20123 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrica Mira","family":"Cat\u00f2","sequence":"additional","affiliation":[{"name":"Human Genome Department, Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, 20090 Segrate, Milan, Italy; Department of Pathology and of Cell Biology and Physiology, University of Pittsburgh and Veterans Affairs Medical Center, Pittsburgh, PA 15243; Neuroradiology Department, Istituto Nazionale Neurologico \u201cC. Besta,\u201d 20131 Milan, Italy; and Laboratorio di Biologia Molecolare e Genetica Umana, Universit\u00e0 Cattolica del Sacro Cuore, 20123 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Pangrazio","sequence":"additional","affiliation":[{"name":"Human Genome Department, Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, 20090 Segrate, Milan, Italy; Department of Pathology and of Cell Biology and Physiology, University of Pittsburgh and Veterans Affairs Medical Center, Pittsburgh, PA 15243; Neuroradiology Department, Istituto Nazionale Neurologico \u201cC. Besta,\u201d 20131 Milan, Italy; and Laboratorio di Biologia Molecolare e Genetica Umana, Universit\u00e0 Cattolica del Sacro Cuore, 20123 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Musio","sequence":"additional","affiliation":[{"name":"Human Genome Department, Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, 20090 Segrate, Milan, Italy; Department of Pathology and of Cell Biology and Physiology, University of Pittsburgh and Veterans Affairs Medical Center, Pittsburgh, PA 15243; Neuroradiology Department, Istituto Nazionale Neurologico \u201cC. Besta,\u201d 20131 Milan, Italy; and Laboratorio di Biologia Molecolare e Genetica Umana, Universit\u00e0 Cattolica del Sacro Cuore, 20123 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Rucci","sequence":"additional","affiliation":[{"name":"Human Genome Department, Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, 20090 Segrate, Milan, Italy; Department of Pathology and of Cell Biology and Physiology, University of Pittsburgh and Veterans Affairs Medical Center, Pittsburgh, PA 15243; Neuroradiology Department, Istituto Nazionale Neurologico \u201cC. Besta,\u201d 20131 Milan, Italy; and Laboratorio di Biologia Molecolare e Genetica Umana, Universit\u00e0 Cattolica del Sacro Cuore, 20123 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Sobacchi","sequence":"additional","affiliation":[{"name":"Human Genome Department, Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, 20090 Segrate, Milan, Italy; Department of Pathology and of Cell Biology and Physiology, University of Pittsburgh and Veterans Affairs Medical Center, Pittsburgh, PA 15243; Neuroradiology Department, Istituto Nazionale Neurologico \u201cC. Besta,\u201d 20131 Milan, Italy; and Laboratorio di Biologia Molecolare e Genetica Umana, Universit\u00e0 Cattolica del Sacro Cuore, 20123 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison C.","family":"Sharrow","sequence":"additional","affiliation":[{"name":"Human Genome Department, Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, 20090 Segrate, Milan, Italy; Department of Pathology and of Cell Biology and Physiology, University of Pittsburgh and Veterans Affairs Medical Center, Pittsburgh, PA 15243; Neuroradiology Department, Istituto Nazionale Neurologico \u201cC. Besta,\u201d 20131 Milan, Italy; and Laboratorio di Biologia Molecolare e Genetica Umana, Universit\u00e0 Cattolica del Sacro Cuore, 20123 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara E.","family":"Kalla","sequence":"additional","affiliation":[{"name":"Human Genome Department, Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, 20090 Segrate, Milan, Italy; Department of Pathology and of Cell Biology and Physiology, University of Pittsburgh and Veterans Affairs Medical Center, Pittsburgh, PA 15243; Neuroradiology Department, Istituto Nazionale Neurologico \u201cC. Besta,\u201d 20131 Milan, Italy; and Laboratorio di Biologia Molecolare e Genetica Umana, Universit\u00e0 Cattolica del Sacro Cuore, 20123 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Grazia","family":"Bruzzone","sequence":"additional","affiliation":[{"name":"Human Genome Department, Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, 20090 Segrate, Milan, Italy; Department of Pathology and of Cell Biology and Physiology, University of Pittsburgh and Veterans Affairs Medical Center, Pittsburgh, PA 15243; Neuroradiology Department, Istituto Nazionale Neurologico \u201cC. Besta,\u201d 20131 Milan, Italy; and Laboratorio di Biologia Molecolare e Genetica Umana, Universit\u00e0 Cattolica del Sacro Cuore, 20123 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Colombo","sequence":"additional","affiliation":[{"name":"Human Genome Department, Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, 20090 Segrate, Milan, Italy; Department of Pathology and of Cell Biology and Physiology, University of Pittsburgh and Veterans Affairs Medical Center, Pittsburgh, PA 15243; Neuroradiology Department, Istituto Nazionale Neurologico \u201cC. Besta,\u201d 20131 Milan, Italy; and Laboratorio di Biologia Molecolare e Genetica Umana, Universit\u00e0 Cattolica del Sacro Cuore, 20123 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Cristina","family":"Magli","sequence":"additional","affiliation":[{"name":"Human Genome Department, Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, 20090 Segrate, Milan, Italy; Department of Pathology and of Cell Biology and Physiology, University of Pittsburgh and Veterans Affairs Medical Center, Pittsburgh, PA 15243; Neuroradiology Department, Istituto Nazionale Neurologico \u201cC. Besta,\u201d 20131 Milan, Italy; and Laboratorio di Biologia Molecolare e Genetica Umana, Universit\u00e0 Cattolica del Sacro Cuore, 20123 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Vezzoni","sequence":"additional","affiliation":[{"name":"Human Genome Department, Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, 20090 Segrate, Milan, Italy; Department of Pathology and of Cell Biology and Physiology, University of Pittsburgh and Veterans Affairs Medical Center, Pittsburgh, PA 15243; Neuroradiology Department, Istituto Nazionale Neurologico \u201cC. Besta,\u201d 20131 Milan, Italy; and Laboratorio di Biologia Molecolare e Genetica Umana, Universit\u00e0 Cattolica del Sacro Cuore, 20123 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Villa","sequence":"additional","affiliation":[{"name":"Human Genome Department, Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, 20090 Segrate, Milan, Italy; Department of Pathology and of Cell Biology and Physiology, University of Pittsburgh and Veterans Affairs Medical Center, Pittsburgh, PA 15243; Neuroradiology Department, Istituto Nazionale Neurologico \u201cC. Besta,\u201d 20131 Milan, Italy; and Laboratorio di Biologia Molecolare e Genetica Umana, Universit\u00e0 Cattolica del Sacro Cuore, 20123 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2005,9,29]]},"reference":[{"key":"e_1_3_2_1_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198003273021301"},{"key":"e_1_3_2_2_2","first-page":"450","volume":"89","year":"2004","unstructured":"Pirovano, S., Notarangelo, L. D., Malacarne, F., Mazzolari, E., Porta, F., Lanfranchi, A., Giuliani, S., Zucca, S., Pecorelli, S., Albertini, A., et al. (2004) Haematologica 89, 450-461.15075079","journal-title":"Haematologica"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199612123352404"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(96)09392-0"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0041-1345(99)00510-2"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1703410"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1177\/107327480401100217"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1159\/000077957"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V94.7.2179.419k43_2179_2191"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1704510"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2002-01-0016"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2002-01-0166"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.285.5436.2084"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/77131"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.13.2059"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.17.1767"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2003.18.10.1740"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)82004-9"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1701474"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1702743"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V99.9.3458"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1704194"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature02069"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature01539"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI200421301"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(97)00313-X"},{"key":"e_1_3_2_27_2","doi-asserted-by":"publisher","DOI":"10.1359\/JBMR.040403"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.84.3.789"},{"key":"e_1_3_2_29_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-04-1296"},{"key":"e_1_3_2_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/S8756-3282(99)00278-1"},{"key":"e_1_3_2_31_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.2528207"},{"key":"e_1_3_2_32_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)63798-4"},{"key":"e_1_3_2_33_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20076"},{"key":"e_1_3_2_34_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1074-7613(01)00122-4"},{"key":"e_1_3_2_35_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2004.01.014"},{"key":"e_1_3_2_36_2","doi-asserted-by":"publisher","DOI":"10.1038\/70563"},{"key":"e_1_3_2_37_2","doi-asserted-by":"publisher","DOI":"10.1097\/00062752-200001000-00008"}],"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.0507637102","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,12]],"date-time":"2022-04-12T13:00:39Z","timestamp":1649768439000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.0507637102"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,9,29]]},"references-count":37,"journal-issue":{"issue":"41","published-print":{"date-parts":[[2005,10,11]]}},"alternative-id":["10.1073\/pnas.0507637102"],"URL":"https:\/\/doi.org\/10.1073\/pnas.0507637102","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,9,29]]},"assertion":[{"value":"2005-07-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2005-09-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}