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Select item 58024041.

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 56757452.

ORAL D-GALACTOSE SUPPLEMENTATION IN PGM1-CDG

Sunnie Yan-Wai Wong, Therese Gadomski, Monique van Scherpenzeel, Tomas Honzik, Hana Hansikova, Katja S. Brocke Holmefjord, Marit Mork, Francis Bowling, Jolanta Sykut Cegielska, Dieter Koch, Jozef Hertecant, Graeme Preston, Jaak Jaeken, Nicole Peeters, Stefanie Perez, David Do Nguyen, Kea Crivelly, Tim Emmerzaal, K. Michael Gibson, Kimiyo Raymond, Nurulamin Abu Bakar, Francois Foulquier, Gernot Poschet, Amanda Ackermann, Miao He, Dirk Lefeber, Christian Thiel, Tamas Kozicz, Eva Morava

Genet Med. Author manuscript; available in PMC 2017 Dec 15.

Published in final edited form as: Genet Med. 2017 Nov; 19(11): 1226–1235. Published online 2017 Jun 15. doi: 10.1038/gim.2017.41

PMCID:: PMC5675745

Abstract Article PDF–607K

Select item 78552683.

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management

Ruqaiah Altassan, Silvia Radenkovic, Andrew C. Edmondson, Rita Barone, Sandra Brasil, Anna Cechova, David Coman, Sarah Donoghue, Kristina Falkenstein, Vanessa Ferreira, Carlos Ferreira, Agata Fiumara, Rita Francisco, Hudson Freeze, Stephanie Grunewald, Tomas Honzik, Jaak Jaeken, Donna Krasnewich, Christina Lam, Joy Lee, Dirk Lefeber, Dorinda Marques-da-Silva, Carlota Pascoal, Dulce Quelhas, Kimiyo M. Raymond, Daisy Rymen, Malgorzata Seroczynska, Mercedes Serrano, Jolanta Sykut-Cegielska, Christian Thiel, Frederic Tort, Mari-Anne Vals, Paula Videira, Nicol Voermans, Peter Witters, Eva Morava

J Inherit Metab Dis. Author manuscript; available in PMC 2021 Jul 1.

Published in final edited form as: J Inherit Metab Dis. 2021 Jan; 44(1): 148–163. Published online 2020 Sep 15. doi: 10.1002/jimd.12286

PMCID:: PMC7855268

Abstract Article PDF–361K

Select item 55807364.

News on Clinical Details and Treatment in PGM1-CDG

Esther Schrapers, Laura C. Tegtmeyer, Gunter Simic-Schleicher, Volker Debus, Janine Reunert, Sebastian Balbach, Karin Klingel, Ingrid Du Chesne, Anja Seelhöfer, Manfred Fobker, Thorsten Marquardt, Stephan Rust

JIMD Rep. 2016; 26: 77–84. Published online 2015 Aug 25. doi: 10.1007/8904_2015_471

PMCID:: PMC5580736

Abstract Article PDF–505K

Select item 101794585.

In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis

Federica Conte, Angel Ashikov, Rachel Mijdam, Eline G. P. van de Ven, Monique van Scherpenzeel, Raisa Veizaj, Seyed P. Mahalleh-Yousefi, Merel A. Post, Karin Huijben, Daan M. Panneman, Richard J. T. Rodenburg, Nicol C. Voermans, Alejandro Garanto, Werner J. H. Koopman, Hans J. C. T. Wessels, Marek J. Noga, Dirk J. Lefeber

Int J Mol Sci. 2023 May; 24(9): 8247. Published online 2023 May 4. doi: 10.3390/ijms24098247

PMCID:: PMC10179458

Abstract Article PDF–7.4M

Select item 63230096.

Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion

Katsuyuki Yokoi, Yoko Nakajima, Tamae Ohye, Hidehito Inagaki, Yoshinao Wada, Tokiko Fukuda, Hideo Sugie, Isao Yuasa, Tetsuya Ito, Hiroki Kurahashi

JIMD Rep. 2019; 43: 85–90. Published online 2018 May 12. doi: 10.1007/8904_2018_108

PMCID:: PMC6323009

Abstract Article PDF–394K

Select item 55408257.

Limitations of galactose therapy in phosphoglucomutase 1 deficiency

Kristine Nolting, Julien H. Park, Laura C. Tegtmeyer, Andrea Zühlsdorf, Marianne Grüneberg, Stephan Rust, Janine Reunert, Ingrid Du Chesne, Volker Debus, Eric Schulze-Bahr, Robert C. Baxter, Yoshinao Wada, Christian Thiel, Emile van Schaftingen, Ralph Fingerhut, Thorsten Marquardt

Mol Genet Metab Rep. 2017 Dec; 13: 33–40. Published online 2017 Jul 31. doi: 10.1016/j.ymgmr.2017.07.010

PMCID:: PMC5540825

Abstract Article PDF–727K

Select item 42316788.

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 101920479.

AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase I deficiency (PGM1-CDG)

B Balakrishnan, R Altassan, R Budhraja, W Liou, A Lupo, S Bryant, A Mankouski, S Radenkovic, G Preston, A Pandey, S Boudina, T Kozicz, E Morava, K Lai

Transl Res. Author manuscript; available in PMC 2024 Jul 1.

Published in final edited form as: Transl Res. 2023 Jul; 257: 1–14. Published online 2023 Jan 26. doi: 10.1016/j.trsl.2023.01.004

PMCID:: PMC10192047

Abstract Article PDF–5.4M

Select item 650680610.

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG

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 418003411.

Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG

Eva Morava

Mol Genet Metab. Author manuscript; available in PMC 2015 Aug 1.

Published in final edited form as: Mol Genet Metab. 2014 Aug; 112(4): 275–279. Published online 2014 Jun 21. doi: 10.1016/j.ymgme.2014.06.002

PMCID:: PMC4180034

Abstract Article PDF–41K

Select item 1003242812.

Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series

Silvia Radenkovic, Christin Johnsen, Andreas Schulze, Gurnoor Lail, Laura Guilder, Kaitlin Schwartz, Matthew Schultz, Saadet Mercimek-Andrews, Suzanne Boyer, Eva Morava

Ther Adv Rare Dis. 2023 Jan-Dec; 4: 26330040221150269. Published online 2023 Jan 26. doi: 10.1177/26330040221150269

PMCID:: PMC10032428

Abstract Article PDF–578K

Select item 437366113.

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 998141514.

Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1‐CDG)

Ruqaiah Altassan, Dimpna C. Albert‐Brotons, Mohammad Alowain, Zohair Al‐Halees, Jaak Jaeken, Eva Morava

JIMD Rep. 2023 Mar; 64(2): 123–128. Published online 2022 Nov 22. doi: 10.1002/jmd2.12350

PMCID:: PMC9981415

Abstract Article PDF–740K

Select item 710134215.

Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the α-d-phosphohexomutase superfamily

Paul Hoff Backe, Jon K. Laerdahl, Lene Svendsen Kittelsen, Bjørn Dalhus, Lars Mørkrid, Magnar Bjørås

Sci Rep. 2020; 10: 5656. Published online 2020 Mar 27. doi: 10.1038/s41598-020-62548-0

PMCID:: PMC7101342

Abstract Article PDF–3.7M

Select item 1129689216.

Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation

Roni Zemet, Kyle D. Hope, Andrew C. Edmondson, Rameen Shah, Maria Patino, Abigail M. Yesso, Justin H. Berger, Kyriakie Sarafoglou, Austin Larson, Christina Lam, Eva Morava, Fernando Scaglia

Mol Genet Metab. Author manuscript; available in PMC 2024 Aug 3.

Published in final edited form as: Mol Genet Metab. 2024 Aug; 142(4): 108513. Published online 2024 Jun 13. doi: 10.1016/j.ymgme.2024.108513

PMCID:: PMC11296892

Abstract Article PDF–717K

Select item 778941617.

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up

Anna Bogdańska, Patryk Lipiński, Paulina Szymańska-Rożek, Aleksandra Jezela-Stanek, Dariusz Rokicki, Piotr Socha, Anna Tylki-Szymańska

Orphanet J Rare Dis. 2021; 16: 17. Published online 2021 Jan 6. doi: 10.1186/s13023-020-01657-5

PMCID:: PMC7789416

Abstract Article PDF–2.5M

Select item 631429418.

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 993874619.

Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran

Atefe Papi, Mina Zamani, Gholamreza Shariati, Alireza Sedaghat, Tahere Seifi, Samira Negahdari, Sahar Sadat Sedighzadeh, Jawaher Zeighami, Alihossein Saberi, Mohammad Hamid, Hamid Galehdari

Mol Genet Genomic Med. 2023 Feb; 11(2): e2099. Published online 2022 Dec 29. doi: 10.1002/mgg3.2099

PMCID:: PMC9938746

Abstract Article PDF–361K

Select item 580241220.

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

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