PMC Links for Gene (Select 5236) - PMC

Silvia Radenkovic, Matthew J. Bird, Tim L. Emmerzaal, Sunnie Y. Wong, Catarina Felgueira, Kyle M. Stiers, Leila Sabbagh, Nastassja Himmelreich, Gernot Poschet, Petra Windmolders, Jan Verheijen, Peter Witters, Ruqaiah Altassan, Tomas Honzik, Tuba F. Eminoglu, Phillip M. James, Andrew C. Edmondson, Jozef Hertecant, Tamas Kozicz, Christian Thiel, Pieter Vermeersch, David Cassiman, Lesa Beamer, Eva Morava, Bart Ghesquière

Am J Hum Genet. 2019 May 2; 104(5): 835–846. Published online 2019 Apr 11. doi: 10.1016/j.ajhg.2019.03.003

PMCID:: PMC6506806

Abstract Article PDF–3.0M

Select item 63142944.

A hotspot for disease-associated variants of human PGM1 is associated with impaired ligand binding and loop dynamics

Kyle M. Stiers, Lesa J. Beamer

Structure. Author manuscript; available in PMC 2019 Oct 2.

Published in final edited form as: Structure. 2018 Oct 2; 26(10): 1337–1345.e3. Published online 2018 Aug 16. doi: 10.1016/j.str.2018.07.005

PMCID:: PMC6314294

Abstract Article PDF–1.7M

Select item 61937435.

Phosphoglucomutase 1 inhibits hepatocellular carcinoma progression by regulating glucose trafficking

Guang-Zhi Jin, Yajuan Zhang, Wen-Ming Cong, Xueyuan Wu, Xiongjun Wang, Siyang Wu, Siyao Wang, Weiping Zhou, Shengxian Yuan, Hong Gao, Guanzhen Yu, Weiwei Yang

PLoS Biol. 2018 Oct; 16(10): e2006483. Published online 2018 Oct 18. doi: 10.1371/journal.pbio.2006483

PMCID:: PMC6193743

Abstract Article PDF–10M

Select item 58024126.

Asp263 missense variants perturb the active site of human phosphoglucomutase 1 (PGM1)

Kyle M. Stiers, Abigail C. Graham, Bailee N. Kain, Lesa J. Beamer

FEBS J. Author manuscript; available in PMC 2018 Feb 7.

Published in final edited form as: FEBS J. 2017 Mar; 284(6): 937–947. Published online 2017 Feb 10. doi: 10.1111/febs.14025

PMCID:: PMC5802412

Abstract Article PDF–1.6M

Select item 43736617.

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

L.C. Tegtmeyer, S. Rust, M. van Scherpenzeel, B.G. Ng, M.-E. Losfeld, S. Timal, K. Raymond, P. He, M. Ichikawa, J. Veltman, K. Huijben, Y.S. Shin, V. Sharma, M. Adamowicz, M. Lammens, J. Reunert, A. Witten, E. Schrapers, G. Matthijs, J. Jaeken, D. Rymen, T. Stojkovic, P. Laforêt, F. Petit, O. Aumaître, E. Czarnowska, M. Piraud, T. Podskarbi, C.A. Stanley, R. Matalon, P. Burda, S. Seyyedi, V. Debus, P. Socha, J. Sykut-Cegielska, F. van Spronsen, L. de Meirleir, P. Vajro, T. DeClue, C. Ficicioglu, Y. Wada, R.A. Wevers, D. Vanderschaeghe, N. Callewaert, R. Fingerhut, E. van Schaftingen, H.H. Freeze, E. Morava, D.J. Lefeber, T. Marquardt

N Engl J Med. Author manuscript; available in PMC 2015 Mar 25.

Published in final edited form as: N Engl J Med. 2014 Feb 6; 370(6): 533–542. doi: 10.1056/NEJMoa1206605

PMCID:: PMC4373661

Abstract Article PDF–742K

Select item 11377128.

Phosphoglucomutase 1: a gene with two promoters and a duplicated first exon.

W Putt, J H Ives, M Hollyoake, D A Hopkinson, D B Whitehouse, Y H Edwards

Biochem J. 1993 Dec 1; 296(Pt 2): 417–422. doi: 10.1042/bj2960417

PMCID:: PMC1137712

Summary Page Browse PDF–1.2M

Select item 478509.

Intragenic recombination at the human phosphoglucomutase 1 locus: predictions fulfilled.

N Takahashi, J V Neel

Proc Natl Acad Sci U S A. 1993 Nov 15; 90(22): 10725–10729. doi: 10.1073/pnas.90.22.10725

PMCID:: PMC47850

Summary Page Browse PDF–1.2M

Select item 580240410.

Induced structural disorder as a molecular mechanism for enzyme dysfunction in phosphoglucomutase 1 deficiency

Kyle M. Stiers, Bailee N. Kain, Abigail C. Graham, Lesa J. Beamer

J Mol Biol. Author manuscript; available in PMC 2018 Feb 7.

Published in final edited form as: J Mol Biol. 2016 Apr 24; 428(8): 1493–1505. Published online 2016 Mar 10. doi: 10.1016/j.jmb.2016.02.032

PMCID:: PMC5802404

Abstract Article PDF–1.5M

Select item 423167811.

Compromised Catalysis and Potential Folding Defects in in Vitro Studies of Missense Mutants Associated with Hereditary Phosphoglucomutase 1 Deficiency

Yingying Lee, Kyle M. Stiers, Bailee N. Kain, Lesa J. Beamer

J Biol Chem. 2014 Nov 14; 289(46): 32010–32019. Published online 2014 Oct 6. doi: 10.1074/jbc.M114.597914

PMCID:: PMC4231678

Abstract Article PDF–1.3M

Select item 42709812.

Regional Localization of Loci for Human PGM₁ and 6PGD on Human Chromosome One by Use of Hybrids of Chinese Hamster-Human Somatic Cells

George R. Douglas, Phyllis J. McAlpine, John L. Hamerton

Proc Natl Acad Sci U S A. 1973 Oct; 70(10): 2737–2740. doi: 10.1073/pnas.70.10.2737

PMCID:: PMC427098

Summary Page Browse PDF–1.1M

Select item 4785113.

The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination.

R E March, W Putt, M Hollyoake, J H Ives, J U Lovegrove, D A Hopkinson, Y H Edwards, D B Whitehouse

Proc Natl Acad Sci U S A. 1993 Nov 15; 90(22): 10730–10733. doi: 10.1073/pnas.90.22.10730

PMCID:: PMC47851

Summary Page Browse PDF–1.2M

Select item 4824714.

Phosphoglucomutase 1: complete human and rabbit mRNA sequences and direct mapping of this highly polymorphic marker on human chromosome 1.

D B Whitehouse, W Putt, J U Lovegrove, K Morrison, M Hollyoake, M F Fox, D A Hopkinson, Y H Edwards

Proc Natl Acad Sci U S A. 1992 Jan 1; 89(1): 411–415. doi: 10.1073/pnas.89.1.411

PMCID:: PMC48247

Summary Page Browse PDF–1.3M

Select item 315954915.

Genome-wide association study identifies two loci strongly affecting transferrin glycosylation

Zoltán Kutalik, Beben Benyamin, Sven Bergmann, Vincent Mooser, Gérard Waeber, Grant W. Montgomery, Nicholas G. Martin, Pamela A.F. Madden, Andrew C. Heath, Jacques S. Beckmann, Peter Vollenweider, Pedro Marques-Vidal, John B. Whitfield

Hum Mol Genet. 2011 Sep 15; 20(18): 3710–3717. Published online 2011 Jun 10. doi: 10.1093/hmg/ddr272

PMCID:: PMC3159549

Abstract Article PDF–182K

Select item 980367816.

DYRK3 phosphorylates SNAPIN to regulate axonal retrograde transport and neurotransmitter release

Ye Hyung Lee, Bo Kyoung Suh, Unghwi Lee, Seung Hyun Ryu, Sung Ryong Shin, Sunghoe Chang, Sang Ki Park, Kwang Chul Chung

Cell Death Discov. 2022; 8: 503. Published online 2022 Dec 30. doi: 10.1038/s41420-022-01290-0

PMCID:: PMC9803678

Abstract Article PDF–3.4M

Select item 615842817.

Human Cytomegalovirus UL135 Interacts with Host Adaptor Proteins To Regulate Epidermal Growth Factor Receptor and Reactivation from Latency

Michael A. Rak, Jason Buehler, Sebastian Zeltzer, Justin Reitsma, Belen Molina, Scott Terhune, Felicia Goodrum

J Virol. 2018 Oct 15; 92(20): e00919-18. Prepublished online 2018 Aug 8. Published online 2018 Sep 26. doi: 10.1128/JVI.00919-18

Correction in:: J Virol. 2020 Apr; 94(7): e00748-19.

PMCID:: PMC6158428

Abstract Article PDF–759K

Select item 405428918.

PEA15 Regulates the DNA Damage-Induced Cell Cycle Checkpoint and Oncogene-Directed Transformation

Arvindhan Nagarajan, Shaillay Kumar Dogra, Alex Y. Liu, Michael R. Green, Narendra Wajapeyee

Mol Cell Biol. 2014 Jun; 34(12): 2264–2282. doi: 10.1128/MCB.01542-13

PMCID:: PMC4054289

Abstract Article PDF–6.2M

Select item 288901419.

Genome-wide association study and meta-analysis finds over 40 loci affect risk of type 1 diabetes

Jeffrey C. Barrett, David Clayton, Patrick Concannon, Beena Akolkar, Jason D. Cooper, Henry A. Erlich, Cécile Julier, Grant Morahan, Jørn Nerup, Concepcion Nierras, Vincent Plagnol, Flemming Pociot, Helen Schuilenburg, Deborah J. Smyth, Helen Stevens, John A. Todd, Neil M. Walker, Stephen S. Rich, the Type 1 Diabetes Genetics Consortium

Nat Genet. Author manuscript; available in PMC 2010 Sep 21.

Published in final edited form as: Nat Genet. 2009 Jun; 41(6): 703–707. Published online 2009 May 10. doi: 10.1038/ng.381

PMCID:: PMC2889014

Abstract Article PDF–458K

Select item 796225220.

The C. elegans homolog of human panic-disorder risk gene TMEM132D orchestrates neuronal morphogenesis through the WAVE-regulatory complex

Xin Wang, Wei Jiang, Shuo Luo, Xiaoyu Yang, Changnan Wang, Bingying Wang, Yongjun Dang, Yin Shen, Dengke K. Ma

Mol Brain. 2021; 14: 54. Published online 2021 Mar 16. doi: 10.1186/s13041-021-00767-w

PMCID:: PMC7962252

Abstract Article PDF–6.5M

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