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Generation of mice with a conditional allele for G6pc.

Peng WT, Pan CJ, Lee EJ, Westphal H, Chou JY.

Genesis. 2009 Sep;47(9):590-4. doi: 10.1002/dvg.20538.


Prevention of hepatocellular adenoma and correction of metabolic abnormalities in murine glycogen storage disease type Ia by gene therapy.

Lee YM, Jun HS, Pan CJ, Lin SR, Wilson LH, Mansfield BC, Chou JY.

Hepatology. 2012 Nov;56(5):1719-29. doi: 10.1002/hep.25717. Epub 2012 Aug 27.


Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes.

Chou JY, Jun HS, Mansfield BC.

J Inherit Metab Dis. 2015 May;38(3):511-9. doi: 10.1007/s10545-014-9772-x. Epub 2014 Oct 7. Review.


The upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia.

Lee YM, Pan CJ, Koeberl DD, Mansfield BC, Chou JY.

Mol Genet Metab. 2013 Nov;110(3):275-80. doi: 10.1016/j.ymgme.2013.06.014. Epub 2013 Jun 25.


Glycogen storage disease type Ia mice with less than 2% of normal hepatic glucose-6-phosphatase-α activity restored are at risk of developing hepatic tumors.

Kim GY, Lee YM, Kwon JH, Cho JH, Pan CJ, Starost MF, Mansfield BC, Chou JY.

Mol Genet Metab. 2017 Mar;120(3):229-234. doi: 10.1016/j.ymgme.2017.01.003. Epub 2017 Jan 10.


Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.

Chou JY, Mansfield BC.

Hum Mutat. 2008 Jul;29(7):921-30. doi: 10.1002/humu.20772. Review.


A novel homozygous no-stop mutation in G6PC gene from a Chinese patient with glycogen storage disease type Ia.

Gu LL, Li XH, Han Y, Zhang DH, Gong QM, Zhang XX.

Gene. 2014 Feb 25;536(2):362-5. doi: 10.1016/j.gene.2013.11.059. Epub 2013 Dec 16.


Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.

Barkaoui E, Cherif W, Tebib N, Charfeddine C, Ben Rhouma F, Azzouz H, Ben Chehida A, Monastiri K, Chemli J, Amri F, Ben Turkia H, Abdelmoula MS, Kaabachi N, Abdelhak S, Ben Dridi MF.

J Inherit Metab Dis. 2007 Nov;30(6):989. Epub 2007 Nov 19.


Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.

Ki CS, Han SH, Kim HJ, Lee SG, Kim EJ, Kim JW, Choe YH, Seo JK, Chang YJ, Park JY.

Clin Genet. 2004 Jun;65(6):487-9.


Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice.

Sun MS, Pan CJ, Shieh JJ, Ghosh A, Chen LY, Mansfield BC, Ward JM, Byrne BJ, Chou JY.

Hum Mol Genet. 2002 Sep 1;11(18):2155-64.


Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.

Chou JY, Matern D, Mansfield BC, Chen YT.

Curr Mol Med. 2002 Mar;2(2):121-43. Review.


Mice expressing reduced levels of hepatic glucose-6-phosphatase-α activity do not develop age-related insulin resistance or obesity.

Kim GY, Lee YM, Cho JH, Pan CJ, Jun HS, Springer DA, Mansfield BC, Chou JY.

Hum Mol Genet. 2015 Sep 15;24(18):5115-25. doi: 10.1093/hmg/ddv230. Epub 2015 Jun 18.


Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia.

Takahashi K, Akanuma J, Matsubara Y, Fujii K, Kure S, Suzuki Y, Wataya K, Sakamoto O, Aoki Y, Ogasawara M, Ohura T, Miyabayashi S, Narisawa K.

Am J Med Genet. 2000 May 15;92(2):90-4.


Targeted deletion of liver glucose-6 phosphatase mimics glycogen storage disease type 1a including development of multiple adenomas.

Mutel E, Abdul-Wahed A, Ramamonjisoa N, Stefanutti A, Houberdon I, Cavassila S, Pilleul F, Beuf O, Gautier-Stein A, Penhoat A, Mithieux G, Rajas F.

J Hepatol. 2011 Mar;54(3):529-37. doi: 10.1016/j.jhep.2010.08.014. Epub 2010 Oct 1.


Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.

Matern D, Seydewitz HH, Bali D, Lang C, Chen YT.

Eur J Pediatr. 2002 Oct;161 Suppl 1:S10-9. Epub 2002 Jul 27.


Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy.

Chou JY, Jun HS, Mansfield BC.

Nat Rev Endocrinol. 2010 Dec;6(12):676-88. doi: 10.1038/nrendo.2010.189. Epub 2010 Oct 26. Review.


Adenovirus-mediated gene therapy in a mouse model of glycogen storage disease type 1a.

Chou JY, Zingone A, Pan CJ.

Eur J Pediatr. 2002 Oct;161 Suppl 1:S56-61. Epub 2002 Jul 19. Review.


Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.

Lei KJ, Shelly LL, Lin B, Sidbury JB, Chen YT, Nordlie RC, Chou JY.

J Clin Invest. 1995 Jan;95(1):234-40.


Minimal hepatic glucose-6-phosphatase-α activity required to sustain survival and prevent hepatocellular adenoma formation in murine glycogen storage disease type Ia.

Lee YM, Kim GY, Pan CJ, Mansfield BC, Chou JY.

Mol Genet Metab Rep. 2015 Mar 13;3:28-32. doi: 10.1016/j.ymgmr.2015.03.001. eCollection 2015 Jun.


Deletion of the gene encoding the ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein (UGRP)/glucose-6-phosphatase catalytic subunit-beta results in lowered plasma cholesterol and elevated glucagon.

Wang Y, Oeser JK, Yang C, Sarkar S, Hackl SI, Hasty AH, McGuinness OP, Paradee W, Hutton JC, Powell DR, O'Brien RM.

J Biol Chem. 2006 Dec 29;281(52):39982-9. Epub 2006 Oct 5.

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