{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T07:08:34Z","timestamp":1791011314289,"version":"4.1.0"},"reference-count":51,"publisher":"American Society of Hematology","issue":"12","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2009,9,17]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders. The defective gene is CTNS encoding the lysosomal cystine transporter, cystinosin. Cystine accumulates in every organ in the body and leads to organ damage and dysfunction, including renal defects. Using the murine model for cystinosis, Ctns\u2212\/\u2212 mice, we performed syngeneic bone marrow cell (BMC), hematopoietic stem cell (HSC), and mesenchymal stem cell transplantation. Organ-specific cystine content was reduced by 57% to 94% in all organs tested in the BMC-treated mice. Confocal microscopy and quantitative polymerase chain reaction revealed a large quantity of transplanted BMC in all organs tested, from 5% to 19% of the total cells. Most of these cells were not from the lymphoid lineage but part of the intrinsic structure of the organ. The natural progression of renal dysfunction was prevented, and deposition of corneal cystine crystals was significantly improved in the BMC-treated mice. HSC had the same therapeutic effect as whole BMC. In contrast, mesenchymal stem cell did not integrate efficiently in any organ. This work is a proof of concept for using HSC transplantation as a therapy for cystinosis and highlights the efficiency of this strategy for a chronic, progressive degenerative disease.<\/jats:p>","DOI":"10.1182\/blood-2009-03-213934","type":"journal-article","created":{"date-parts":[[2009,6,9]],"date-time":"2009-06-09T02:23:55Z","timestamp":1244514235000},"page":"2542-2552","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":108,"title":["Successful treatment of the murine model of cystinosis using bone marrow cell transplantation"],"prefix":"10.1182","volume":"114","author":[{"given":"Kimberly","family":"Syres","sequence":"first","affiliation":[{"name":"Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Harrison","sequence":"additional","affiliation":[{"name":"Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Tadlock","sequence":"additional","affiliation":[{"name":"Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James V.","family":"Jester","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of California, Irvine, Orange; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Simpson","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of California, Irvine, Orange; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Subhojit","family":"Roy","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, University of California, San Diego, La Jolla"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel R.","family":"Salomon","sequence":"additional","affiliation":[{"name":"Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Cherqui","sequence":"additional","affiliation":[{"name":"Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"key":"2019111721212172400_B1","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1038\/ng0498-319","article-title":"A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.","volume":"18","author":"Town","year":"1998","journal-title":"Nat Genet"},{"key":"2019111721212172400_B2","doi-asserted-by":"crossref","first-page":"13314","DOI":"10.1074\/jbc.M010562200","article-title":"The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif.","volume":"276","author":"Cherqui","year":"2001","journal-title":"J Biol Chem"},{"key":"2019111721212172400_B3","doi-asserted-by":"crossref","first-page":"5940","DOI":"10.1093\/emboj\/20.21.5940","article-title":"Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter.","volume":"20","author":"Kalatzis","year":"2001","journal-title":"EMBO J"},{"key":"2019111721212172400_B4","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1007\/s00467-007-0650-8","article-title":"Nephropathic cystinosis: late complications of a multisystemic disease.","volume":"23","author":"Nesterova","year":"2008","journal-title":"Pediatr Nephrol"},{"key":"2019111721212172400_B5","unstructured":"North American Pediatric Renal Trials and Collaborative Studies NAPRTCS 2008 Annual Report. 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