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Items: 1 to 20 of 24

1.
Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia
Yoo-Mi Kim, Jin-Ho Choi, Beom-Hee Lee, Gu-Hwan Kim, Kyung-Mo Kim, Han-Wook Yoo
Orphanet J Rare Dis. 2020; 15: 45. Published online 2020 Feb 11. doi: 10.1186/s13023-020-1321-0
PMCID:
PMC7014716
ArticlePDF–881K
2.
Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia
Bi-Xia Zheng, Qian Lin, Mei Li, Yu Jin
Eur J Pediatr. 2015; 174(1): 59–63. Published online 2014 Jul 1. doi: 10.1007/s00431-014-2354-y
PMCID:
PMC4289013
ArticlePDF–617K
3.
Glucose-6-phosphatase is a Key Metabolic Regulator of Glioblastoma Invasion
Sara Abbadi, Julio J. Rodarte, Ameer Abutaleb, Emily Lavell, Chris L. Smith, William Ruff, Jennifer Schiller, Alessandro Olivi, Andre Levchenko, Hugo Guerrero-Cazares, Alfredo Quinones-Hinojosa
Mol Cancer Res. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Mol Cancer Res. 2014 Nov; 12(11): 1547–1559. Published online 2014 Jul 7. doi: 10.1158/1541-7786.MCR-14-0106-T
PMCID:
PMC4233174
ArticlePDF–2.4M
4.
Mutations in the Glucose-6-Phosphatase-α (G6PC) Gene that Cause Type Ia Glycogen Storage Disease
Janice Y. Chou, Brian C. Mansfield
Hum Mutat. Author manuscript; available in PMC 2008 Jul 20.
Published in final edited form as: Hum Mutat. 2008 Jul; 29(7): 921–930. doi: 10.1002/humu.20772
PMCID:
PMC2475600
ArticlePDF–398K
5.
Genetic Basis of Glycogen Storage Disease Type 1a: Prevalent Mutations at the Glucose-6-Phosphatase Locus
Ke-Jian Lei, Yuan-Tsong Chen, Hungwen Chen, Lee-Jun C. Wong, Ji-Lan Liu, Allyn McConkie-Rosell, Johan L. K. Van Hove, Henry C.-Y. Ou, Nan Jung Yeh, Lorraine Y. Pan, Janice Yang Chou
Am J Hum Genet. 1995 Oct; 57(4): 766–771.
PMCID:
PMC1801521
SummaryPage BrowsePDF–1.3M
6.
Exon Redefinition by a Point Mutation within Exon 5 of the Glucose-6-Phosphatase Gene is the Major Cause of Glycogen Storage Disease Type 1a in Japan
Susumu Kajihara, Sachiko Matsuhashi, Kyosuke Yamamoto, Keiko Kido, Kazue Tsuji, Ayako Tanae, Shigetoshi Fujiyama, Tadashi Itoh, Keiichiro Tanigawa, Masako Uchida, Yoichi Setoguchi, Mitsuaki Motomura, Toshihiko Mizuta, Takahiro Sakai
Am J Hum Genet. 1995 Sep; 57(3): 549–555.
PMCID:
PMC1801279
SummaryPage BrowsePDF–1.3M
7.
Identification of a cAMP response element within the glucose- 6-phosphatase hydrolytic subunit gene promoter which is involved in the transcriptional regulation by cAMP and glucocorticoids in H4IIE hepatoma cells.
D Schmoll, C Wasner, C J Hinds, B B Allan, R Walther, A Burchell
Biochem J. 1999 Mar 1; 338(Pt 2): 457–463.
PMCID:
PMC1220073
SummaryPDF–172K
8.
Mutation analysis in 24 French patients with glycogen storage disease type 1a.
F Chevalier-Porst, D Bozon, A M Bonardot, N Bruni, G Mithieux, M Mathieu, I Maire
J Med Genet. 1996 May; 33(5): 358–360. doi: 10.1136/jmg.33.5.358
PMCID:
PMC1050601
SummaryPage BrowsePDF–514K
9.
Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.
K J Lei, C J Pan, L L Shelly, J L Liu, J Y Chou
J Clin Invest. 1994 May; 93(5): 1994–1999. doi: 10.1172/JCI117192
PMCID:
PMC294308
SummaryPage BrowsePDF–1.4M
10.
Rare functional variants in the CRP and G6PC genes modify the relationship between obesity and serum C‐reactive protein in white British population
Xia Li, Alexander Ploner, Yunzhang Wang, Jonathan K. L. Mak, Yi Lu, Patrik K. E. Magnusson, Juulia Jylhävä, Sara Hägg
Mol Genet Genomic Med. 2023 Dec; 11(12): e2255. Published online 2023 Jul 26. doi: 10.1002/mgg3.2255
PMCID:
PMC10724514
ArticlePDF–2.2M
11.
Correction of metabolic abnormalities in a mouse model of glycogen storage disease type Ia by CRISPR/Cas9-based gene editing
Irina Arnaoutova, Lisa Zhang, Hung-Dar Chen, Brian C. Mansfield, Janice Y. Chou
Mol Ther. 2021 Apr 7; 29(4): 1602–1610. Published online 2020 Dec 23. doi: 10.1016/j.ymthe.2020.12.027
PMCID:
PMC8058440
ArticlePDF–2.3M
12.
Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency
Maria Veiga-da-Cunha, Nathalie Chevalier, Xavier Stephenne, Jean-Philippe Defour, Nicole Paczia, Alina Ferster, Younes Achouri, Joseph P. Dewulf, Carole L. Linster, Guido T. Bommer, Emile Van Schaftingen
Proc Natl Acad Sci U S A. 2019 Jan 22; 116(4): 1241–1250. Published online 2019 Jan 9. doi: 10.1073/pnas.1816143116
PMCID:
PMC6347702
ArticlePDF–1.6M
13.
Crystal structures reveal a new and novel FoxO1 binding site within the human glucose-6-phosphatase catalytic subunit 1 gene promoter
Puja Singh, Eun Hee Han, James A. Endrizzi, Richard M. O’Brien, Young-In Chi
J Struct Biol. Author manuscript; available in PMC 2018 Apr 1.
Published in final edited form as: J Struct Biol. 2017 Apr; 198(1): 54–64. Published online 2017 Feb 20. doi: 10.1016/j.jsb.2017.02.006
PMCID:
PMC5443350
ArticlePDF–2.0M
14.
Insulin and Epidermal Growth Factor Suppress Basal Glucose-6-Phosphatase Catalytic Subunit Gene Transcription Through Overlapping but Distinct Mechanisms
Hiroshi Onuma, James K. Oeser, Bryce A. Nelson, Yingda Wang, Brian P. Flemming, Lawrence A. Scheving, William E. Russell, Richard M. O’Brien
Biochem J. Author manuscript; available in PMC 2010 Aug 29.
Published in final edited form as: Biochem J. 2009 Jan 15; 417(2): 611–620. doi: 10.1042/BJ20080999
PMCID:
PMC2929524
ArticlePDF–2.6M
15.
Fasting hyperglycemia is not associated with increased expression of PEPCK or G6Pc in patients with Type 2 Diabetes
Varman T. Samuel, Sara A. Beddow, Takanori Iwasaki, Xian-Man Zhang, Xin Chu, Christopher D. Still, Glenn S. Gerhard, Gerald I. Shulman
Proc Natl Acad Sci U S A. 2009 Jul 21; 106(29): 12121–12126. Published online 2009 Jul 8. doi: 10.1073/pnas.0812547106
PMCID:
PMC2707270
ArticlePDF–388K
16.
Antagonistic effects of phorbol esters on insulin regulation of insulin-like growth factor-binding protein-1 (IGFBP-1) but not glucose-6-phosphatase gene expression.
S Patel, P A Lochhead, G Rena, C Sutherland
Biochem J. 2001 Nov 1; 359(Pt 3): 611–619. doi: 10.1042/0264-6021:3590611
PMCID:
PMC1222183
SummaryPDF–301K
17.
G6PC indicated poor prognosis in cervical cancer and promoted cervical carcinogenesis in vitro and in vivo
Kun Zhu, Chunling Deng, Pan Du, Taorui Liu, Junjie Piao, Yingshi Piao, Meng Yang, Liyan Chen
Reprod Biol Endocrinol. 2022; 20: 50. Published online 2022 Mar 11. doi: 10.1186/s12958-022-00921-6
PMCID:
PMC8915493
ArticlePDF–3.0M
18.
Toll-like receptor 4 signaling is required for induction of gluconeogenic gene expression by palmitate in human hepatic carcinoma cells
Laman K. Mamedova, Kai Yuan, Amber N. Laudick, Sherry D. Fleming, Douglas G. Mashek, Barry J. Bradford
J Nutr Biochem. Author manuscript; available in PMC 2014 Aug 1.
Published in final edited form as: J Nutr Biochem. 2013 Aug; 24(8): 1499–1507. Published online 2013 Mar 1. doi: 10.1016/j.jnutbio.2012.12.009
PMCID:
PMC3713167
ArticlePDF–1.4M
19.
Suppression of Gluconeogenic Gene Expression by LSD1-Mediated Histone Demethylation
Dongning Pan, Chunxiao Mao, Yong-Xu Wang
PLoS One. 2013; 8(6): e66294. Published online 2013 Jun 5. doi: 10.1371/journal.pone.0066294
PMCID:
PMC3673910
ArticlePDF–746K
20.
Interaction of ApoA-IV with NR4A1 and NR1D1 Represses G6Pase and PEPCK Transcription: Nuclear Receptor-Mediated Downregulation of Hepatic Gluconeogenesis in Mice and a Human Hepatocyte Cell Line
Xiaoming Li, Min Xu, Fei Wang, Yong Ji, W. Sean DavidsoN, Zongfang Li, Patrick Tso
PLoS One. 2015; 10(11): e0142098. Published online 2015 Nov 10. doi: 10.1371/journal.pone.0142098
PMCID:
PMC4640595
ArticlePDF–2.2M

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