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We conduct research to delineate the pathophysiology and develop novel therapies for the three subtypes of type I glycogen storage disease (GSD-I), GSD-Ia, GSD-Ib, and GSD-Irs (GSD-I related syndrome). GSD-Ia is caused by a deficiency in glucose-6-phosphatase-α (G6Pase-α or G6PC), GSD-Ib is caused by a deficiency in the G6P transporter (G6PT or SLC37A4), and GSD-Irs, also known as severe congenital neutropenia syndrome type 4 is caused by a deficiency in G6Pase-β. G6Pase-α and G6Pase-β are endoplasmic reticulum (ER)-bound G6P hydrolases, with active sites lying inside the lumen, which depend upon G6PT to translocate G6P from the cytoplasm into the ER lumen. We show that G6PT and G6Pase-α (or G6Pase-β) are functionally co-dependent. We further show that the G6PT/G6Pase-α complex maintains interprandial glucose homeostasis while the G6PT/G6Pase-β complex maintains energy homeostasis and functionality of neutrophils. GSD-Ia and GSD-Ib patients manifest a common metabolic phenotype of impaired glucose homeostasis and long-term complications of hepatocellular adenoma/carcinoma (HCA/HCC) and renal disease. GSD-Ib and GSD-Irs patients manifest a common myeloid phenotype of neutropenia and myeloid dysfunction. More recently, we elucidated the mechanisms underlying HCA/HCC development in mouse GSD-Ia and the mechanism underlying the low incidence of HCA in GSD-Ia mice receiving gene therapy. There is no cure for GSD-Ia, GSD-Ib, and GSD-Irs. We have developed mouse models of these disorders which are being exploited to both delineate the disease more precisely and develop new treatment approaches, including gene therapy.
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