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The primary function of G6PT is to translocate G6P from the cytoplasm into the lumen of the endoplasmic reticulum (ER). Inside the ER, G6P is hydrolyzed to glucose and phosphate by either the liver\/kidney\/intestine\u2010restricted glucose\u20106\u2010phosphatase\u2010\u03b1 (G6Pase\u2010\u03b1) or the ubiquitously expressed G6Pase\u2010\u03b2. A deficiency in G6Pase\u2010\u03b1 causes GSD type Ia (GSD\u2010Ia) and a deficiency in G6Pase\u2010\u03b2 causes GSD\u2010I\u2010related syndrome (GSD\u2010Irs). In gluconeogenic organs, functional coupling of G6PT and G6Pase\u2010\u03b1 is required to maintain interprandial blood glucose homeostasis. In myeloid tissues, functional coupling of G6PT and G6Pase\u2010\u03b2 is required to maintain neutrophil homeostasis. Accordingly, GSD\u2010Ib is a metabolic and immune disorder, manifesting impaired glucose homeostasis, neutropenia, and neutrophil dysfunction. A <jats:italic>G6pt<\/jats:italic> knockout mouse model is being exploited to delineate the pathophysiology of GSD\u2010Ib and develop new clinical treatment options, including gene therapy. The safety and efficacy of several G6PT\u2010expressing recombinant adeno\u2010associated virus pseudotype 2\/8 vectors have been examined in murine GSD\u2010Ib. The results demonstrate that the liver\u2010directed gene transfer and expression safely corrects metabolic abnormalities and prevents hepatocellular adenoma (HCA) development. However, a second vector system may be required to correct myeloid and renal dysfunction in GSD\u2010Ib. These findings are paving the way to a safe and efficacious gene therapy for entering clinical trials.<\/jats:p>","DOI":"10.1007\/s10545-018-0180-5","type":"journal-article","created":{"date-parts":[[2018,4,16]],"date-time":"2018-04-16T11:24:20Z","timestamp":1523877860000},"page":"1007-1014","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Molecular biology and gene therapy for glycogen storage disease type Ib"],"prefix":"10.1002","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4004-6516","authenticated-orcid":false,"given":"Janice Y.","family":"Chou","sequence":"first","affiliation":[{"name":"Section on Cellular Differentiation, Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health Building 10, Room 8N240C, NIH 10 Center Drive Bethesda MD 20892\u20101830 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun\u2010Ho","family":"Cho","sequence":"additional","affiliation":[{"name":"Section on Cellular Differentiation, Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health Building 10, Room 8N240C, NIH 10 Center Drive Bethesda MD 20892\u20101830 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Goo\u2010Young","family":"Kim","sequence":"additional","affiliation":[{"name":"Section on Cellular Differentiation, Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health Building 10, Room 8N240C, NIH 10 Center Drive Bethesda MD 20892\u20101830 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian C.","family":"Mansfield","sequence":"additional","affiliation":[{"name":"Section on Cellular Differentiation, Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health Building 10, Room 8N240C, NIH 10 Center Drive Bethesda MD 20892\u20101830 USA"},{"name":"Foundation Fighting Blindness Columbia MD 21046 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,4,16]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/301727"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-84"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-47"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0805051"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V97.2.376"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI79213"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.25.3199"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg263"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.07-104851"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.08.005"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI30443"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006819"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.3343\/alm.2017.37.3.261"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-800223-0.00010-4"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.2174\/1566524024605798"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2010.189"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOH.0b013e328331df85"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mam.2012.05.010"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9772-x"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.immunol.25.022106.141538"},{"key":"e_1_2_11_22_1","first-page":"45","article-title":"Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. 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