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Adv."],"published-print":{"date-parts":[[2025,11,14]]},"abstract":"<jats:p>\n                    Glycogen storage disease (GSD) type IX \u03b32 is a rare inborn error of metabolism where a defect in glycogenolysis leads to the inability to break down glycogen in the liver. Patients with GSD IX \u03b32 develop hypoglycemia and advanced liver disease, placing them at risk for liver transplantation. This study evaluates the efficacy of liver-directed AAV gene therapy in a murine model of GSD IX \u03b32.\n                    <jats:italic toggle=\"yes\">\n                      Phkg2\n                      <jats:sup>\u2212\/\u2212<\/jats:sup>\n                    <\/jats:italic>\n                    mice underwent treatment with AAV gene therapy (AAV9-LSP-\n                    <jats:italic toggle=\"yes\">mPhkg2<\/jats:italic>\n                    , 5 \u00d7 10\n                    <jats:sup>12<\/jats:sup>\n                    vg\/kg, intravenous delivery) at ages 3 or 6 months and were treated for either 2 weeks, 3 months, or 12 months. Results demonstrated that AAV gene therapy reduced GSD IX \u03b32 disease burden across all primary end points. AAV gene therapy also persisted across the mouse lifespan and reduced preexisting liver fibrosis. This work provides preclinical data supporting AAV gene therapy as a definitive treatment for GSD IX \u03b32.\n                  <\/jats:p>","DOI":"10.1126\/sciadv.ady6760","type":"journal-article","created":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T18:58:51Z","timestamp":1762973931000},"update-policy":"https:\/\/doi.org\/10.34133\/aaas_crossmark","source":"Crossref","is-referenced-by-count":2,"title":["Liver-directed AAV gene therapy in mice corrects glycogen storage disease type IX \u03b32"],"prefix":"10.1126","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4435-6853","authenticated-orcid":true,"given":"Rebecca A.","family":"Gibson","sequence":"first","affiliation":[{"name":"Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27705, USA."},{"name":"Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27705, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0257-4529","authenticated-orcid":true,"given":"William R.","family":"Jeck","sequence":"additional","affiliation":[{"name":"Department of Pathology, Duke University Medical Center, Durham, NC 27705, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5387-3185","authenticated-orcid":true,"given":"Rebecca L.","family":"Koch","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27705, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-3577-5978","authenticated-orcid":true,"given":"Neha","family":"Jumani","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27705, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7681-6493","authenticated-orcid":true,"given":"Su Jin","family":"Choi","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27705, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2550-8073","authenticated-orcid":true,"given":"Deeksha","family":"Bali","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27705, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7671-016X","authenticated-orcid":true,"given":"Sarah P.","family":"Young","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27705, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5563-4877","authenticated-orcid":true,"given":"Aravind","family":"Asokan","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27705, USA."},{"name":"Department of Surgery, Duke University Medical Center, Durham, NC 27705, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4373-4800","authenticated-orcid":true,"given":"Jeong-A","family":"Lim","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27705, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8251-909X","authenticated-orcid":true,"given":"Priya S.","family":"Kishnani","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27705, USA."},{"name":"Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27705, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"221","reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0364-2"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-337"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbacli.2016.02.001"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2008.10.013"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.2741\/Brushia"},{"key":"e_1_3_2_7_2","unstructured":"M. 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