Publications

  • Chou JY, Jun HS, Mansfield BC (2010) Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy. Nat Rev Endocrinol 6:676-688. PMID: 20975743, PMCID: PMC4178929
  • Lee YM, Jun HS, Pan CJ, Lin SR, Wilson LH, Mansfield BC, Chou JY (2012) Prevention of hepatocellular adenoma and correction of metabolic abnormalities in murine glycogen storage disease type Ia by gene therapy.  Hepatology 56:1719-1729. PMID: 22422504, PMCID: PMC3477505
  • Kim GY, Lee YM, Kwon JH, Cho JH, Mansfield BC, Chou JY (2017) Downregulation of pathways implicated in liver inflammation and tumorigenesis of glycogen storage disease type Ia mice receiving gene therapy. Hum Mol Genet, 26:1890-1899. PMID: 28334808, PMCID: PMC6075378
  • Cho J-H, Kim GY, Pan CJ, Anduaga J, Choi E-J, Mansfield BC, Chou JY (2017) Downregulation of SIRT1 signaling underlies hepatic autophagy impairment in glycogen storage disease type Ia. PLOS Genet 13:e1006819. PMID: 28558013,PMCID: PMC5469511
  • Kwon JH, Lee YM, Cho J-H, Kim GY, Anduaga, J, Starost MF, Mansfield BC, Chou JY (2017) Liver-directed gene therapy for murine glycogen storage disease type Ib. Hum Mol Genet 26:4395-4405. PMID: 28973635, PMCID: PMC5886224
  • Zhang L, Cho JH, Arnaoutova I, Mansfield BC, Chou JY (2019) An evolutionary approach to optimizing glucose-6-phosphatase-α enzymatic activity for gene therapy of glycogen storage disease type Ia. J Inherit Metab Dis 42(3):470-479. PMID:30714174, PMCID: PMC6483894
  • Gautam S, Zhang L, Arnaoutova I, Mansfield BC, Chou, JY (2020) The signaling pathways implicated in impairment of hepatic autophagy in glycogen storage disease type Ia. Hum Mol Genet 29(5):834-844. PMID: 31961433, PMCID: PMC7104680
  • Arnaoutova I, Zhang L, Chen HD, Mansfield BC, Chou JY (2020) Correction of metabolic abnormalities in a mouse model of glycogen storage disease type Ia by CRISPR/Cas9-based gene editing. Mol Ther under revision.
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