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Select item 90427001.

Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease

Christopher M. Watson, Fatima Nadat, Sammiya Ahmed, Laura A. Crinnion, Sean O’Riordan, Clive Carter, Sinisa Savic

Genes Immun. 2022; 23(2): 66–72. Published online 2022 Mar 9. doi: 10.1038/s41435-022-00166-8

PMCID:: PMC9042700

Abstract Article PDF–1.1M

Select item 87186242.

CRISPR-targeted MAGT1 insertion restores XMEN patient hematopoietic stem cells and lymphocytes

Julie Brault, Taylor Liu, Ezekiel Bello, Siyuan Liu, Colin L. Sweeney, Ronald J. Meis, Sherry Koontz, Cristina Corsino, Uimook Choi, Guillaume Vayssiere, Marita Bosticardo, Kennichi Dowdell, Cicera R. Lazzarotto, Aaron B. Clark, Luigi D. Notarangelo, Juan C. Ravell, Michael J. Lenardo, Benjamin P. Kleinstiver, Shengdar Q. Tsai, Xiaolin Wu, Gary A. Dahl, Harry L. Malech, Suk See De Ravin

Blood. 2021 Dec 30; 138(26): 2768–2780. doi: 10.1182/blood.2021011192

PMCID:: PMC8718624

Abstract Article

Select item 73692503.

An update on XMEN disease.

Juan C. Ravell, Samuel D. Chauvin, Tingyan He, Michael Lenardo

J Clin Immunol. Author manuscript; available in PMC 2021 Jul 1.

Published in final edited form as: J Clin Immunol. 2020 Jul; 40(5): 671–681. Published online 2020 May 26. doi: 10.1007/s10875-020-00790-x

PMCID:: PMC7369250

Abstract Article PDF–982K

Select item 69342294.

Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease

Juan C. Ravell, Mami Matsuda-Lennikov, Samuel D. Chauvin, Juan Zou, Matthew Biancalana, Sally J. Deeb, Susan Price, Helen C. Su, Giulia Notarangelo, Ping Jiang, Aaron Morawski, Chrysi Kanellopoulou, Kyle Binder, Ratnadeep Mukherjee, James T. Anibal, Brian Sellers, Lixin Zheng, Tingyan He, Alex B. George, Stefania Pittaluga, Astin Powers, David E. Kleiner, Devika Kapuria, Marc Ghany, Sally Hunsberger, Jeffrey I. Cohen, Gulbu Uzel, Jenna Bergerson, Lynne Wolfe, Camilo Toro, William Gahl, Les R. Folio, Helen Matthews, Pam Angelus, Ivan K. Chinn, Jordan S. Orange, Claudia M. Trujillo-Vargas, Jose Luis Franco, Julio Orrego-Arango, Sebastian Gutiérrez-Hincapié, Niraj Chandrakant Patel, Kimiyo Raymond, Turkan Patiroglu, Ekrem Unal, Musa Karakukcu, Alexandre G.R. Day, Pankaj Mehta, Evan Masutani, Suk S. De Ravin, Harry L. Malech, Grégoire Altan-Bonnet, V. Koneti Rao, Matthias Mann, Michael J. Lenardo

J Clin Invest. 2020 Jan 2; 130(1): 507–522. Published online 2019 Dec 9. doi: 10.1172/JCI131116

PMCID:: PMC6934229

Abstract Article PDF–14M

Select item 67464365.

Magnesium transporter 1 (MAGT1) deficiency causes selective defects in N-linked glycosylation and expression of immune-response genes

Mami Matsuda-Lennikov, Matthew Biancalana, Juan Zou, Juan C. Ravell, Lixin Zheng, Chrysi Kanellopoulou, Ping Jiang, Giulia Notarangelo, Huie Jing, Evan Masutani, Andrew J. Oler, Lisa Renee Olano, Benjamin L. Schulz, Michael J. Lenardo

J Biol Chem. 2019 Sep 13; 294(37): 13638–13656. Published online 2019 Jul 23. doi: 10.1074/jbc.RA119.008903

PMCID:: PMC6746436

Abstract Article PDF–5.5M

Select item 63283106.

Identification of a novel mutation in MAGT1 and progressive multifocal leucoencephalopathy in a 58-year-old man with XMEN disease

Fatima Dhalla, Murray S Sarah, Ross Sadler, Benjamin Chaigne-Delalande, Tomohiko Sadaoka, Elizabeth Soilleux, Gulbu Uzel, Joanne Miller, Graham Peter Collins, Christian Simon Ross Hatton, Malini Bhole, Berne Ferry, Helen Margaret Chapel, Jeffrey I Cohen, Smita Y Patel

J Clin Immunol. Author manuscript; available in PMC 2019 Jan 10.

Published in final edited form as: J Clin Immunol. 2015 Feb; 35(2): 112–118. Published online 2014 Dec 13. doi: 10.1007/s10875-014-0116-2

PMCID:: PMC6328310

Abstract Article PDF–1.4M

Select item 56487757.

MAGT1-mediated disturbance of Mg²⁺ homeostasis lead to exhausted of HBV-infected NK and CD8⁺ T cells

Bo Diao, Xiaoyong Huang, Shen Guo, Chengying Yang, Guosong Liu, Yongwen Chen, Yuzhang Wu

Sci Rep. 2017; 7: 13594. Published online 2017 Oct 19. doi: 10.1038/s41598-017-11522-4

PMCID:: PMC5648775

Abstract Article PDF–2.8M

Select item 39752558.

XMEN disease: a new primary immunodeficiency affecting Mg²⁺ regulation of immunity against Epstein-Barr virus

Feng-Yen Li, Benjamin Chaigne-Delalande, Helen Su, Gulbu Uzel, Helen Matthews, Michael J. Lenardo

Blood. 2014 Apr 3; 123(14): 2148–2152. Prepublished online 2014 Feb 18. doi: 10.1182/blood-2013-11-538686

PMCID:: PMC3975255

Abstract Article

Select item 37324669.

Loss of MAGT1 abrogates a Mg²⁺ flux required for T cell signaling and leads to a novel human primary immunodeficiency

Feng-Yen Li, Michael J. Lenardo, Benjamin Chaigne-Delalande

Magnes Res. Author manuscript; available in PMC 2013 Aug 3.

Published in final edited form as: Magnes Res. 2011 Sep; 24(3): S109–S114. doi: 10.1684/mrh.2011.0286

PMCID:: PMC3732466

Abstract Article PDF–734K

Select item 315956010.

Signaling role for Mg²⁺ revealed by immunodeficiency due to loss of MagT1

Feng-Yen Li, Benjamin Chaigne-Delalande, Chrysi Kanellopoulou, Jeremiah C. Davis, Helen F. Matthews, Daniel C. Douek, Jeffrey I. Cohen, Gulbu Uzel, Helen C. Su, Michael J. Lenardo

Nature. Author manuscript; available in PMC 2012 Jan 28.

Published in final edited form as: Nature. 2011 Jul 28; 475(7357): 471–476. Published online 2011 Jul 27. doi: 10.1038/nature10246

PMCID:: PMC3159560

Abstract Article PDF–1002K

Select item 928264011.

Transcription factor KLF16 activates MAGT1 to regulate the tumorigenesis and progression of breast cancer

Lin Li, Xi Zhang, Yuqi Li, Bo Xiao, Sibiao Pei, Hangyu Jiang, Xiaofen Zhang

Int J Mol Med. 2022 Sep; 50(3): 115. Published online 2022 Jul 7. doi: 10.3892/ijmm.2022.5171

PMCID:: PMC9282640

Abstract Article PDF–2.1M

Select item 652551012.

Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype

Eline Blommaert, Romain Péanne, Natalia A. Cherepanova, Daisy Rymen, Frederik Staels, Jaak Jaeken, Valérie Race, Liesbeth Keldermans, Erika Souche, Anniek Corveleyn, Rebecca Sparkes, Kaustuv Bhattacharya, Christine Devalck, Rik Schrijvers, François Foulquier, Reid Gilmore, Gert Matthijs

Proc Natl Acad Sci U S A. 2019 May 14; 116(20): 9865–9870. Published online 2019 Apr 29. doi: 10.1073/pnas.1817815116

PMCID:: PMC6525510

Abstract Article PDF–1007K

Select item 621243913.

TRPM7 and MagT1 in the osteogenic differentiation of human mesenchymal stem cells in vitro

Sara Castiglioni, Valentina Romeo, Laura Locatelli, Alessandra Cazzaniga, Jeanette A. M. Maier

Sci Rep. 2018; 8: 16195. Published online 2018 Nov 1. doi: 10.1038/s41598-018-34324-8

PMCID:: PMC6212439

Abstract Article PDF–3.4M

Select item 551625614.

Dengue Virus Hijacks a Noncanonical Oxidoreductase Function of a Cellular Oligosaccharyltransferase Complex

David L. Lin, Natalia A. Cherepanova, Leonia Bozzacco, Margaret R. MacDonald, Reid Gilmore, Andrew W. Tai

mBio. 2017 Jul-Aug; 8(4): e00939-17. Published online 2017 Jul 18. doi: 10.1128/mBio.00939-17

PMCID:: PMC5516256

Abstract Article PDF–1.7M

Select item 463777515.

Up-regulation of AKAP13 and MAGT1 on cytoplasmic membrane in progressive hepatocellular carcinoma: a novel target for prognosis

Patamaporn Molee, Poom Adisakwattana, Onrapak Reamtong, Songsak Petmitr, Thaniya Sricharunrat, Nantana Suwandittakul, Urai Chaisri

Int J Clin Exp Pathol. 2015; 8(9): 9796–9811. Published online 2015 Sep 1.

PMCID:: PMC4637775

Abstract Article PDF–2.2M

Select item 389478216.

Mg²⁺ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D

Benjamin Chaigne-Delalande, Feng-Yen Li, Geraldine M. O’Connor, Marshall J. Lukacs, Ping Jiang, Lixin Zheng, Amber Shatzer, Matthew Biancalana, Stefania Pittaluga, Helen F. Matthews, Timothy J. Jancel, Jack J. Bleesing, Rebecca A. Marsh, Taco W. Kuijpers, Kim E. Nichols, Carrie L. Lucas, Sunil Nagpal, Huseyin Mehmet, Helen C. Su, Jeffrey I. Cohen, Gulbu Uzel, Michael J. Lenardo

Science. Author manuscript; available in PMC 2014 Jan 17.

Published in final edited form as: Science. 2013 Jul 12; 341(6142): 186–191. doi: 10.1126/science.1240094