{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T17:36:47Z","timestamp":1775324207303,"version":"3.50.1"},"reference-count":41,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,3,3]],"date-time":"2021-03-03T00:00:00Z","timestamp":1614729600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The severe impact on brain function and lack of effective therapy for patients with creatine (Cr) transporter deficiency motivated the generation of three ubiquitous Slc6a8 deficient mice (\u2212\/y). While each mouse knock\u2010out line has similar behavioral effects at 2 to 3\u2009months of age, other features critical to the efficient use of these mice in drug discovery are unclear or lacking: the concentration of Cr in brain and heart differ widely between mouse lines, there are limited data on histopathologic changes, and no data on Cr uptake. Here, we determined survival, measured endogenous Cr and uptake of its deuterium\u2010labeled analogue Cr\u2010d3 using a liquid chromatography coupled with tandem mass spectrometry assay, and performed comprehensive histopathologic examination on the <jats:italic>Slc6a8<\/jats:italic><jats:sup>\u2212\/y<\/jats:sup> mouse developed by Skelton et al. Our results show that <jats:italic>Slc6a8<\/jats:italic><jats:sup>\u2212\/y<\/jats:sup> mice have widely varying organ\u2010specific uptake of Cr\u2010d3, significantly diminished growth with the exception of brain, progressive vacuolar myopathy, and markedly shortened lifespan.<\/jats:p>","DOI":"10.1002\/jimd.12358","type":"journal-article","created":{"date-parts":[[2021,1,3]],"date-time":"2021-01-03T07:27:27Z","timestamp":1609658847000},"page":"939-948","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Creatine transport and pathological changes in creatine transporter deficient mice"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1767-6635","authenticated-orcid":false,"given":"Adam M.","family":"Wawro","sequence":"first","affiliation":[{"name":"Department of Pathology Stanford University  Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chandresh R.","family":"Gajera","sequence":"additional","affiliation":[{"name":"Department of Pathology Stanford University  Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven A.","family":"Baker","sequence":"additional","affiliation":[{"name":"Department of Pathology Stanford University  Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey J.","family":"Nirschl","sequence":"additional","affiliation":[{"name":"Department of Pathology Stanford University  Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannes","family":"Vogel","sequence":"additional","affiliation":[{"name":"Department of Pathology Stanford University  Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas J.","family":"Montine","sequence":"additional","affiliation":[{"name":"Department of Pathology Stanford University  Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,3,3]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)65492-4"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.2000.80.3.1107"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.WCB.0000033966.83623.7D"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0169-328X(00)00269-2"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-8993(03)02547-2"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/320595"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.79"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2002-36743"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1024405821638"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1022487218904"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0123-4"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0212-4"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2007.01148.x"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1083-2"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101658"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000239153.39710.81"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-1063-y"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0162-9"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0902-1"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9713-8"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11011-018-0197-3"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0016187"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.5369.1"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2018.00773"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI59373"},{"key":"e_1_2_12_27_1","unstructured":"BrubakerWF.Creatine prodrugs compositions and methods of use thereof.US Patent. Published online April 11 2017. Accessed October 22 2020.https:\/\/patentimages.storage.googleapis.com\/58\/a5\/b8\/8d7cdee363a713\/US9617230.pdf"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.2217\/nnm-2019-0059"},{"key":"e_1_2_12_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-75436-4"},{"key":"e_1_2_12_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw252"},{"key":"e_1_2_12_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/0026-0495(92)90213-T"},{"key":"e_1_2_12_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41589-020-0483-3"},{"key":"e_1_2_12_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00726-016-2189-0"},{"key":"e_1_2_12_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/gbb.12461"},{"key":"e_1_2_12_35_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0254"},{"key":"e_1_2_12_36_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt175"},{"key":"e_1_2_12_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biochi.2015.10.022"},{"key":"e_1_2_12_38_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnsyn.2020.588954"},{"key":"e_1_2_12_39_1","doi-asserted-by":"publisher","DOI":"10.3233\/JAD-180162"},{"key":"e_1_2_12_40_1","doi-asserted-by":"publisher","DOI":"10.1111\/his.13345"},{"key":"e_1_2_12_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41592-019-0582-9"},{"key":"e_1_2_12_42_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.2005970"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12358","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jimd.12358","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12358","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T15:50:32Z","timestamp":1692978632000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12358"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,3]]},"references-count":41,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,7]]}},"alternative-id":["10.1002\/jimd.12358"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12358","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,3]]},"assertion":[{"value":"2020-10-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-03","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}