{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T07:05:51Z","timestamp":1792047951529,"version":"4.4.0"},"reference-count":22,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2012,11,1]],"date-time":"2012-11-01T00:00:00Z","timestamp":1351728000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100004837","name":"Ministerio de Ciencia e Innovaci\u00f3n","doi-asserted-by":"crossref","award":["SAF2008-00577"],"award-info":[{"award-number":["SAF2008-00577"]}],"id":[{"id":"10.13039\/501100004837","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004837","name":"Ministerio de Ciencia e Innovaci\u00f3n","doi-asserted-by":"crossref","award":["SAF2011-23660"],"award-info":[{"award-number":["SAF2011-23660"]}],"id":[{"id":"10.13039\/501100004837","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100002809","name":"Generalitat de Catalunya","doi-asserted-by":"crossref","award":["2009SGR624"],"award-info":[{"award-number":["2009SGR624"]}],"id":[{"id":"10.13039\/501100002809","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100002809","name":"Generalitat de Catalunya","doi-asserted-by":"crossref","award":["PS 09\/01591"],"award-info":[{"award-number":["PS 09\/01591"]}],"id":[{"id":"10.13039\/501100002809","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100002809","name":"Generalitat de Catalunya","doi-asserted-by":"crossref","award":["PS 09\/01602"],"award-info":[{"award-number":["PS 09\/01602"]}],"id":[{"id":"10.13039\/501100002809","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"crossref"}]},{"name":"CONICYT"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biochemical and Biophysical Research Communications"],"published-print":{"date-parts":[[2012,11]]},"DOI":"10.1016\/j.bbrc.2012.09.143","type":"journal-article","created":{"date-parts":[[2012,10,8]],"date-time":"2012-10-08T05:45:41Z","timestamp":1349675141000},"page":"532-537","source":"Crossref","is-referenced-by-count":11,"title":["Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome"],"prefix":"10.1016","volume":"428","author":[{"given":"Isabel","family":"Huber-Ruano","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekaitz","family":"Errasti-Murugarren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Godoy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1ngel","family":"Vera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoni L.","family":"Andreu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Garcia-Arumi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramon","family":"Mart\u00ed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00e7al","family":"Pastor-Anglada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbrc.2012.09.143_b0005","doi-asserted-by":"crossref","first-page":"2257","DOI":"10.1093\/hmg\/ddp161","article-title":"SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway","volume":"18","author":"Cliffe","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbrc.2012.09.143_b0010","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.jaad.2008.03.021","article-title":"The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations","volume":"59","author":"Molho-Pessach","year":"2008","journal-title":"J. Am. Acad. Dermatol."},{"key":"10.1016\/j.bbrc.2012.09.143_b0015","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1080\/09687680110033765","article-title":"The ENT family of eukaryote nucleoside and nucleobase transporters: recent advances in the investigation of structure\/function relationships and the identification of novel isoforms","volume":"18","author":"Hyde","year":"2001","journal-title":"Mol. Membr. Biol."},{"key":"10.1016\/j.bbrc.2012.09.143_b0020","doi-asserted-by":"crossref","first-page":"G910","DOI":"10.1152\/ajpgi.90672.2008","article-title":"Facilitated mitochondrial import of antiviral and anticancer nucleoside drugs by human equilibrative nucleoside transporter-3","volume":"296","author":"Govindarajan","year":"2009","journal-title":"Am. J. Physiol. Gastrointest. Liver Physiol."},{"key":"10.1016\/j.bbrc.2012.09.143_b0025","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/j.ajhg.2008.09.013","article-title":"The H syndrome is caused by mutations in the nucleoside transporter hENT3","volume":"83","author":"Molho-Pessach","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbrc.2012.09.143_b0030","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.jdermsci.2009.09.011","article-title":"The H syndrome: two novel mutations affecting the same amino acid residue of hENT3","volume":"57","author":"Molho-Pessach","year":"2009","journal-title":"J. Dermatol. Sci."},{"key":"10.1016\/j.bbrc.2012.09.143_b0035","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1111\/j.1365-2133.2010.09653.x","article-title":"H syndrome: novel and recurrent mutations in SLC29A3","volume":"162","author":"Priya","year":"2010","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.bbrc.2012.09.143_b0040","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1016\/j.nmd.2010.03.017","article-title":"Mitochondrial DNA depletion syndromes\u2014many genes, common mechanisms","volume":"20","author":"Suomalainen","year":"2010","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.bbrc.2012.09.143_b0045","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1016\/j.mito.2009.05.001","article-title":"Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis","volume":"9","author":"Medja","year":"2009","journal-title":"Mitochondrion"},{"key":"10.1016\/j.bbrc.2012.09.143_b0050","doi-asserted-by":"crossref","first-page":"e13896","DOI":"10.1371\/journal.pone.0013896","article-title":"Uridine metabolism in HIV-1-infected patients: effect of infection, of antiretroviral therapy and of HIV-1\/ART-associated lipodystrophy syndrome","volume":"5","author":"Domingo","year":"2010","journal-title":"PLoS ONE"},{"key":"10.1016\/j.bbrc.2012.09.143_b0055","doi-asserted-by":"crossref","first-page":"2328","DOI":"10.1182\/blood-2002-07-2236","article-title":"Fludarabine uptake mechanisms in B-cell chronic lymphocytic leukemia","volume":"101","author":"Molina-Arcas","year":"2003","journal-title":"Blood"},{"key":"10.1016\/j.bbrc.2012.09.143_b0060","doi-asserted-by":"crossref","first-page":"1504","DOI":"10.1002\/hep.510280609","article-title":"Differential expression and regulation of nucleoside transport systems in rat liver parenchymal and hepatoma cells","volume":"28","author":"del Santo","year":"1998","journal-title":"Hepatology"},{"key":"10.1016\/j.bbrc.2012.09.143_b0065","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1016\/j.mito.2009.02.006","article-title":"Quantification of mitochondrial DNA copy number: pre-analytical factors","volume":"9","author":"Andreu","year":"2009","journal-title":"Mitochondrion"},{"key":"10.1016\/j.bbrc.2012.09.143_b0070","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.jdermsci.2009.09.011","article-title":"The H syndrome: two novel mutations affecting the same amino acid residue of hENT3","volume":"57","author":"Molho-Pessach","year":"2010","journal-title":"J. Dermatol. Sci."},{"key":"10.1016\/j.bbrc.2012.09.143_b0075","doi-asserted-by":"crossref","first-page":"e1000833","DOI":"10.1371\/journal.pgen.1000833","article-title":"Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease","volume":"6","author":"Morgan","year":"2010","journal-title":"PLoS Genet."},{"key":"10.1016\/j.bbrc.2012.09.143_b0080","doi-asserted-by":"crossref","first-page":"e29708","DOI":"10.1371\/journal.pone.0029708","article-title":"A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant","volume":"7","author":"Bolze","year":"2012","journal-title":"PLoS ONE"},{"key":"10.1016\/j.bbrc.2012.09.143_b0085","doi-asserted-by":"crossref","first-page":"15880","DOI":"10.1074\/jbc.M414337200","article-title":"Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes","volume":"280","author":"Baldwin","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbrc.2012.09.143_b0090","article-title":"Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis","author":"Hsu","year":"2011","journal-title":"Science"},{"key":"10.1016\/j.bbrc.2012.09.143_b0095","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1080\/15257771003741042","article-title":"Tissue specific distribution of pyrimidine deoxynucleoside salvage enzymes shed light on the mechanism of mitochondrial DNA depletion","volume":"29","author":"Wang","year":"2010","journal-title":"Nucleosides Nucleotides Nucleic Acids"},{"key":"10.1016\/j.bbrc.2012.09.143_b0100","doi-asserted-by":"crossref","first-page":"1913","DOI":"10.1172\/JCI17828","article-title":"Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency","volume":"111","author":"Nishigaki","year":"2003","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bbrc.2012.09.143_b0105","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1016\/j.bbrc.2003.09.104","article-title":"Mitochondrial deoxyribonucleoside triphosphate pools in thymidine kinase 2 deficiency","volume":"310","author":"Saada","year":"2003","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bbrc.2012.09.143_b0110","doi-asserted-by":"crossref","first-page":"1876","DOI":"10.1093\/jnci\/91.21.1876","article-title":"Gemcitabine transport in xenopus oocytes expressing recombinant plasma membrane mammalian nucleoside transporters","volume":"91","author":"Mackey","year":"1999","journal-title":"J. Natl. Cancer Inst."}],"container-title":["Biochemical and Biophysical Research Communications"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006291X12019250?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006291X12019250?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,5,7]],"date-time":"2020-05-07T05:47:30Z","timestamp":1588830450000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0006291X12019250"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11]]},"references-count":22,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,11]]}},"alternative-id":["S0006291X12019250"],"URL":"https:\/\/doi.org\/10.1016\/j.bbrc.2012.09.143","relation":{},"ISSN":["0006-291X"],"issn-type":[{"value":"0006-291X","type":"print"}],"subject":[],"published":{"date-parts":[[2012,11]]}}}