PMC Links for Gene (Select 14377) - PMC

Anouk M. La Rose, Venetia Bazioti, Joanne A. Hoogerland, Arthur F. Svendsen, Anouk G. Groenen, Martijn van Faassen, Martijn G.S. Rutten, Niels J. Kloosterhuis, Bertien Dethmers-Ausema, J. Hendrik Nijland, Gilles Mithieux, Fabienne Rajas, Folkert Kuipers, Michaël V. Lukens, Oliver Soehnlein, Maaike H. Oosterveer, Marit Westerterp

Mol Metab. 2021 Nov; 53: 101265. Published online 2021 Jun 4. doi: 10.1016/j.molmet.2021.101265

PMCID:: PMC8243524

Abstract Article PDF–1.6M

Select item 73092764.

Gene therapy using a novel G6PC-S298C variant enhances the long-term efficacy for treating glycogen storage disease type Ia

Lisa Zhang, Cheol Lee, Irina Arnaoutova, Javier Anduaga, Matthew F. Starost, Brian C. Mansfield, Janice Y. Chou

Biochem Biophys Res Commun. Author manuscript; available in PMC 2021 Jun 30.

Published in final edited form as: Biochem Biophys Res Commun. 2020 Jun 30; 527(3): 824–830. Published online 2020 May 16. doi: 10.1016/j.bbrc.2020.04.124

PMCID:: PMC7309276

Abstract Article PDF–1.4M

Select item 71046805.

The signaling pathways implicated in impairment of hepatic autophagy in glycogen storage disease type Ia

Sudeep Gautam, Lisa Zhang, Irina Arnaoutova, Cheol Lee, Brian C Mansfield, Janice Y Chou

Hum Mol Genet. 2020 Mar 27; 29(5): 834–844. Published online 2020 Jan 21. doi: 10.1093/hmg/ddaa007

PMCID:: PMC7104680

Abstract Article PDF–1.6M

Select item 62982376.

Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia

Lauren R Waskowicz, Jin Zhou, Dustin J Landau, Elizabeth D Brooks, Andrea Lim, Zollie A Yavarow, Tsubasa Kudo, Haoyue Zhang, Yajun Wu, Stuart Grant, Sarah P Young, Bay Boon Huat, Paul M Yen, Dwight D Koeberl

Hum Mol Genet. 2019 Jan 1; 28(1): 143–154. Published online 2018 Sep 25. doi: 10.1093/hmg/ddy343

PMCID:: PMC6298237

Abstract Article PDF–29M

Select item 53578517.

Hepatic mitochondrial dysfunction is a feature of Glycogen Storage Disease Type Ia (GSDIa)

Benjamin L. Farah, Rohit A. Sinha, Yajun Wu, Brijesh K. Singh, Andrea Lim, Masahiro Hirayama, Dustin J. Landau, Boon Huat Bay, Dwight D. Koeberl, Paul M. Yen

Sci Rep. 2017; 7: 44408. Published online 2017 Mar 20. doi: 10.1038/srep44408

PMCID:: PMC5357851

Abstract Article PDF–1.7M

Select item 45508138.

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

Goo-Young Kim, Young Mok Lee, Jun-Ho Cho, Chi-Jiunn Pan, Hyun Sik Jun, Danielle A. Springer, Brian C. Mansfield, Janice Y. Chou

Hum Mol Genet. 2015 Sep 15; 24(18): 5115–5125. Published online 2015 Jun 18. doi: 10.1093/hmg/ddv230

PMCID:: PMC4550813

Abstract Article PDF–1020K

Select item 43145409.

A gut–brain neural circuit controlled by intestinal gluconeogenesis is crucial in metabolic health

Maud Soty, Armelle Penhoat, Marta Amigo-Correig, Jennifer Vinera, Anne Sardella, Fanny Vullin-Bouilloux, Carine Zitoun, Isabelle Houberdon, Gilles Mithieux

Mol Metab. 2015 Feb; 4(2): 106–117. Published online 2014 Dec 26. doi: 10.1016/j.molmet.2014.12.009

PMCID:: PMC4314540

Abstract Article PDF–1.2M

Select item 389873110.

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

Young Mok Lee, Chi-Jiunn Pan, Dwight D. Koeberl, Brian C. Mansfield, Janice Y. Chou

Mol Genet Metab. Author manuscript; available in PMC 2014 Nov 1.

Published in final edited form as: Mol Genet Metab. 2013 Nov; 110(3): 275–280. Published online 2013 Jun 25. doi: 10.1016/j.ymgme.2013.06.014

PMCID:: PMC3898731

Abstract Article PDF–446K

Select item 376449011.

Pathogenesis of growth failure and partial reversal with gene therapy in murine and canine Glycogen Storage Disease type Ia

Elizabeth Drake Brooks, Dianne Little, Ramamani Arumugam, Baodong Sun, Sarah Curtis, Amanda DeMaster, Michael Maranzano, Mark W. Jackson, Priya Kishnani, Michael S. Freemark, Dwight D. Koeberl

Mol Genet Metab. Author manuscript; available in PMC 2014 Jun 1.

Published in final edited form as: Mol Genet Metab. 2013 Jun; 109(2): 161–170. Published online 2013 Apr 6. doi: 10.1016/j.ymgme.2013.03.018

PMCID:: PMC3764490

Abstract Article PDF–1.9M

Select item 313256012.

A detailed characterization of the adult mouse model of glycogen storage disease Ia

Susan V Salganik, David A Weinstein, Thomas D Shupe, Max Salganik, Dana G Pintilie, Bryon E Petersen

Lab Invest. Author manuscript; available in PMC 2011 Jul 10.

Published in final edited form as: Lab Invest. 2009 Sep; 89(9): 1032–1042. Published online 2009 Jul 6. doi: 10.1038/labinvest.2009.64

PMCID:: PMC3132560

Abstract Article PDF–2.3M

Select item 255372013.

Neutrophilia and elevated serum cytokines are implicated in glycogen storage disease type Ia

So Youn Kim, Li-Yuan Chen, Wai Han Yiu, David A. Weinstein, Janice Y. Chou

FEBS Lett. Author manuscript; available in PMC 2008 Sep 26.

Published in final edited form as: FEBS Lett. 2007 Aug 7; 581(20): 3833–3838. Published online 2007 Jul 16. doi: 10.1016/j.febslet.2007.07.013

PMCID:: PMC2553720

Abstract Article PDF–922K

Select item 242675014.

The angiotensin system mediates renal fibrosis in glycogen storage disease type Ia nephropathy

Wai Han Yiu, Chi-Jiunn Pan, Robert A. Ruef, Wen-Tao Peng, Matthew F. Starost, Brian C. Mansfield, Janice Y. Chou

Kidney Int. Author manuscript; available in PMC 2008 Jun 12.

Published in final edited form as: Kidney Int. 2008 Mar; 73(6): 716–723. Published online 2007 Dec 12. doi: 10.1038/sj.ki.5002718

PMCID:: PMC2426750

Abstract Article PDF–5.4M

Select item 1002395715.

A caveolin-1 dependent glucose-6-phosphatase trafficking contributes to hepatic glucose production

Amandine Gautier-Stein, Julien Chilloux, Maud Soty, Bernard Thorens, Christophe Place, Carine Zitoun, Adeline Duchampt, Lorine Da Costa, Fabienne Rajas, Christophe Lamaze, Gilles Mithieux

Mol Metab. 2023 Apr; 70: 101700. Published online 2023 Mar 2. doi: 10.1016/j.molmet.2023.101700

PMCID:: PMC10023957

Abstract Article PDF–2.7M

Select item 874519716.

Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients

Roberta Resaz, Davide Cangelosi, Daniela Segalerba, Martina Morini, Paolo Uva, Maria Carla Bosco, Giuseppe Banderali, Ana Estrella, Corbinian Wanner, David A. Weinstein, Annalisa Sechi, Sabrina Paci, Daniela Melis, Maja Di Rocco, Young Mok Lee, Alessandra Eva

Int J Mol Sci. 2022 Jan; 23(1): 328. Published online 2021 Dec 28. doi: 10.3390/ijms23010328

PMCID:: PMC8745197

Abstract Article PDF–1.2M

Select item 814945517.

mRNA therapy restores euglycemia and prevents liver tumors in murine model of glycogen storage disease

Jingsong Cao, Minjung Choi, Eleonora Guadagnin, Maud Soty, Marine Silva, Vincent Verzieux, Edward Weisser, Arianna Markel, Jenny Zhuo, Shi Liang, Ling Yin, Andrea Frassetto, Anne-Renee Graham, Kristine Burke, Tatiana Ketova, Cosmin Mihai, Zach Zalinger, Becca Levy, Gilles Besin, Meredith Wolfrom, Barbara Tran, Christopher Tunkey, Erik Owen, Joe Sarkis, Athanasios Dousis, Vladimir Presnyak, Christopher Pepin, Wei Zheng, Lei Ci, Marjie Hard, Edward Miracco, Lisa Rice, Vi Nguyen, Mike Zimmer, Uma Rajarajacholan, Patrick F. Finn, Gilles Mithieux, Fabienne Rajas, Paolo G. V. Martini, Paloma H. Giangrande

Nat Commun. 2021; 12: 3090. Published online 2021 May 25. doi: 10.1038/s41467-021-23318-2

PMCID:: PMC8149455

Abstract Article PDF–3.9M

Select item 805844018.

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

Abstract Article PDF–2.3M

Select item 769171919.

The absence of hepatic glucose-6 phosphatase/ChREBP couple is incompatible with survival in mice

Fabienne Rajas, Renaud Dentin, Alexane Cannella Miliano, Marine Silva, Margaux Raffin, Françoise Levavasseur, Amandine Gautier-Stein, Catherine Postic, Gilles Mithieux

Mol Metab. 2021 Jan; 43: 101108. Published online 2020 Oct 31. doi: 10.1016/j.molmet.2020.101108

PMCID:: PMC7691719

Abstract Article PDF–2.1M

Select item 752045720.

Circulating exosomal microRNAs as potential biomarkers of hepatic injury and inflammation in a murine model of glycogen storage disease type 1a

Roberta Resaz, Davide Cangelosi, Martina Morini, Daniela Segalerba, Luca Mastracci, Federica Grillo, Maria Carla Bosco, Cristina Bottino, Irma Colombo, Alessandra Eva

Dis Model Mech. 2020 Sep 1; 13(9): dmm043364. Published online 2020 Sep 18. doi: 10.1242/dmm.043364

PMCID:: PMC7520457

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