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Gene therapy and genome editing for type I glycogen storage diseases

31 Mar 2023

Abstract excerpt

Type I glycogen storage diseases (GSD-I) consist of two major autosomal recessive disorders, GSD-Ia, caused by a reduction of glucose-6-phosphatase-α (G6Pase-α or G6PC) activity and GSD-Ib, caused by a reduction in the glucose-6-phosphate transporter (G6PT or SLC37A4) activity. The G6Pase-α and G6PT are functionally co-dependent. Together, the G6Pase-α/G6PT complex catalyzes the translocation of G6P from the...

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PMID: 39086673
DOI: 10.3389/fmmed.2023.1167091

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