{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T01:01:39Z","timestamp":1784682099481,"version":"3.55.0"},"reference-count":45,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T00:00:00Z","timestamp":1748563200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T00:00:00Z","timestamp":1748563200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["HD000912\u201038"],"award-info":[{"award-number":["HD000912\u201038"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Nephropathy is a complication of glycogen storage disease type Ia (GSD\u2010Ia), a metabolic disorder caused by pathogenic variants in glucose\u20106\u2010phosphatase\u2010\u03b1 (G6Pase\u2010\u03b1 or G6PC1). While maintaining blood glucose homeostasis can delay the progression of renal disease in GSD\u2010Ia, the benefits of liver\u2010directed G6PC1 gene therapy on nephropathy remain unclear. This study evaluates the effects of low\u2010 and high\u2010dose G6PC1 liver gene augmentation therapy on kidney function. The\n                    <jats:italic>G6pc<\/jats:italic>\n                    \u2212\/\u2212 mice, which lack G6Pase\u2010\u03b1 activity in both liver and kidney, were treated with G6PC1 gene therapy to restore either low or near\u2010normal levels of liver G6Pase\u2010\u03b1 activity, and renal phenotype was examined at age 12\u2009weeks. Both groups exhibited impaired renal glucose homeostasis, altered renal glucose reabsorption, acute kidney injury, and early signs of renal fibrosis. However, mice with near\u2010normal liver G6Pase\u2010\u03b1 activity had better renal glucose reabsorption and homeostasis with lower serum levels of cystatin C and blood urea nitrogen, key markers of kidney function. These findings highlight the potential of liver\u2010directed G6PC1 gene therapy to enhance metabolic control and mitigate early kidney disease in GSD\u2010Ia.\n                  <\/jats:p>","DOI":"10.1002\/jimd.70048","type":"journal-article","created":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T03:45:09Z","timestamp":1748576709000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Liver\u2010Directed Gene Therapy Mitigates Early Nephropathy in Murine Glycogen Storage Disease Type Ia"],"prefix":"10.1002","volume":"48","author":[{"given":"Cheol","family":"Lee","sequence":"first","affiliation":[{"name":"Section on Cellular Differentiation, Division of Translational Medicine Eunice Kennedy Shriver National Institute of Child Health and Human Development  Bethesda Maryland 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