{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T03:40:01Z","timestamp":1778902801759,"version":"3.51.4"},"reference-count":22,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,7,2]],"date-time":"2018-07-02T00:00:00Z","timestamp":1530489600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2018,7,2]],"date-time":"2018-07-02T00:00:00Z","timestamp":1530489600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"name":"Associazione Italiana Glicogenosi"},{"DOI":"10.13039\/100007388","name":"Compagnia di San Paolo","doi-asserted-by":"crossref","award":["Grant 318"],"award-info":[{"award-number":["Grant 318"]}],"id":[{"id":"10.13039\/100007388","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and aims<\/jats:title><jats:p>Glycogen storage disease type Ib (GSD1b) is a rare metabolic and immune disorder caused by a deficiency in the glucose\u20106\u2010phosphate transporter (G6PT) and characterized by impaired glucose homeostasis, myeloid dysfunction, and long\u2010term risk of hepatocellular adenomas. Despite maximal therapy, based on a strict diet and on granulocyte colony\u2010stimulating factor treatment, long\u2010term severe complications still develop. Understanding the pathophysiology of GSD1b is a prerequisite to develop new therapeutic strategies and depends on the availability of animal models. The G6PT\u2010KO mouse mimics the human disease but is very fragile and rarely survives weaning. We generated a conditional G6PT\u2010deficient mouse as an alternative model for studying the long\u2010term pathophysiology of the disease. We utilized this conditional mouse to develop an inducible G6PT\u2010KO model to allow temporally regulated G6PT deletion by the administration of tamoxifen (TM).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We generated a conditional G6PT\u2010deficient mouse utilizing the CRElox strategy. Histology, histochemistry, and phenotype analyses were performed at different times after TM\u2010induced G6PT inactivation. Neutrophils and monocytes were isolated and analyzed for functional activity with standard techniques.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The G6PT\u2010inducible KO mice display the expected disturbances of G6P metabolism and myeloid dysfunctions of the human disorder, even though with a milder intensity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>TM\u2010induced inactivation of G6PT in these mice leads to a phenotype which mimics that of human GSD1b patients. The conditional mice we have generated represent an excellent tool to study the tissue\u2010specific role of the <jats:italic>G6PT<\/jats:italic> gene and the mechanism of long\u2010term complications in GSD1b.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-018-0211-2","type":"journal-article","created":{"date-parts":[[2018,7,2]],"date-time":"2018-07-02T11:16:39Z","timestamp":1530530199000},"page":"1015-1025","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Development and characterization of an inducible mouse model for glycogen storage disease type Ib"],"prefix":"10.1002","volume":"41","author":[{"given":"Federica","family":"Raggi","sequence":"first","affiliation":[{"name":"Laboratory of Molecular Biology, Department of Translational Research, Laboratory Medicine, Diagnosis and Services Istituto Giannina Gaslini Largo Gaslini 5 Genoa 16147 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