{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T20:12:02Z","timestamp":1786651922724,"version":"build-2736575974"},"reference-count":45,"publisher":"Portland Press Ltd.","issue":"3","content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2013,12,15]]},"abstract":"<jats:p>Fabry disease is a lysosomal storage disorder in which neutral glycosphingolipids, predominantly Gb3 (globotriaosylceramide), accumulate due to deficient \u03b1-Gal A (\u03b1-galactosidase A) activity. The GLAko (\u03b1-Gal A-knockout) mouse has been used as a model for Fabry disease, but it does not have any symptomatic abnormalities. In the present study, we generated a symptomatic mouse model (G3Stg\/GLAko) by cross-breeding GLAko mice with transgenic mice expressing human Gb3 synthase. G3Stg\/GLAko mice had high Gb3 levels in major organs, and their serum Gb3 level at 5\u201325\u00a0weeks of age was 6\u201310-fold higher than that in GLAko mice of the same age. G3Stg\/GLAko mice showed progressive renal impairment, with albuminuria at 3\u00a0weeks of age, decreased urine osmolality at 5\u00a0weeks, polyuria at 10\u00a0weeks and increased blood urea nitrogen at 15\u00a0weeks. The urine volume and urinary albumin concentration were significantly reduced in the G3Stg\/GLAko mice when human recombinant \u03b1-Gal A was administered intravenously. These data suggest that Gb3 accumulation is a primary pathogenic factor in the symptomatic phenotype of G3Stg\/GLAko mice, and that this mouse line is suitable for studying the pathogenesis of Fabry disease and for preclinical studies of candidate therapies.<\/jats:p>","DOI":"10.1042\/bj20130825","type":"journal-article","created":{"date-parts":[[2013,10,8]],"date-time":"2013-10-08T10:19:34Z","timestamp":1381227574000},"page":"373-383","update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":68,"title":["A symptomatic Fabry disease mouse model generated by inducing globotriaosylceramide synthesis"],"prefix":"10.1042","volume":"456","author":[{"given":"Atsumi","family":"Taguchi","sequence":"first","affiliation":[{"name":"Department of Matrix Medicine, Faculty of Medicine, Oita University, Yufu, Oita 879-5593, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroki","family":"Maruyama","sequence":"additional","affiliation":[{"name":"Department of Clinical Nephroscience, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8120, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaaki","family":"Nameta","sequence":"additional","affiliation":[{"name":"Electron Microscope Core Facility, Niigata University, Niigata 951-8120, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadashi","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Electron Microscope Core Facility, Niigata University, Niigata 951-8120, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junichiro","family":"Matsuda","sequence":"additional","affiliation":[{"name":"Laboratory of Animal Models for Human Diseases, National Institute of Biomedical Innovation, Osaka 567-0085, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashok\u00a0B.","family":"Kulkarni","sequence":"additional","affiliation":[{"name":"National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidekatsu","family":"Yoshioka","sequence":"additional","affiliation":[{"name":"Department of Matrix Medicine, Faculty of Medicine, Oita University, Yufu, Oita 879-5593, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Ishii","sequence":"additional","affiliation":[{"name":"Department of Matrix Medicine, Faculty of Medicine, Oita University, Yufu, Oita 879-5593, Japan"},{"name":"Biochemical Laboratory, GlycoPharma Corporation, Oita 870-0822, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"288","published-online":{"date-parts":[[2013,11,22]]},"reference":[{"key":"2021112215501519300_B1","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1056\/NEJM196705252762101","article-title":"Enzymatic defect in Fabry's disease: ceramidetrihexosidase deficiency","volume":"276","author":"Brady","year":"1967","journal-title":"N. 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