Literature DB >> 31815737

XMEN: welcome to the glycosphere.

Hudson H Freeze.   

Abstract

XMEN (X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia) is a complex primary immunological deficiency caused by mutations in MAGT1, a putative magnesium transporter. In this issue of the JCI, Ravell et al. greatly expand the clinical picture. The authors investigated patients' mutations and symptoms and reported distinguishing immunophenotypes. They also showed that MAGT1 is required for N-glycosylation of key T cell and NK cell receptors that can account for some of the clinical features. Notably, transfection of the affected lymphocytes with MAGT1 mRNA restored both N-glycosylation and receptor function. Now we can add XMEN to the ever-growing family of congenital disorders of glycosylation (CDG).

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Year:  2020        PMID: 31815737      PMCID: PMC6934210          DOI: 10.1172/JCI134240

Source DB:  PubMed          Journal:  J Clin Invest        ISSN: 0021-9738            Impact factor:   14.808


  20 in total

Review 1.  Genomics of Immune Diseases and New Therapies.

Authors:  Michael Lenardo; Bernice Lo; Carrie L Lucas
Journal:  Annu Rev Immunol       Date:  2015-12-23       Impact factor: 28.527

Review 2.  Congenital disorders of glycosylation.

Authors:  Irene J Chang; Miao He; Christina T Lam
Journal:  Ann Transl Med       Date:  2018-12

Review 3.  XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus.

Authors:  Feng-Yen Li; Benjamin Chaigne-Delalande; Helen Su; Gulbu Uzel; Helen Matthews; Michael J Lenardo
Journal:  Blood       Date:  2014-02-18       Impact factor: 22.113

4.  Silencing human NKG2D, DAP10, and DAP12 reduces cytotoxicity of activated CD8+ T cells and NK cells.

Authors:  Mobin Karimi; Thai M Cao; Jeanette A Baker; Michael R Verneris; Luis Soares; Robert S Negrin
Journal:  J Immunol       Date:  2005-12-15       Impact factor: 5.422

Review 5.  CDG and immune response: From bedside to bench and back.

Authors:  Carlota Pascoal; Rita Francisco; Tiago Ferro; Vanessa Dos Reis Ferreira; Jaak Jaeken; Paula A Videira
Journal:  J Inherit Metab Dis       Date:  2019-06-25       Impact factor: 4.982

6.  Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.

Authors:  Florence Molinari; François Foulquier; Patrick S Tarpey; Willy Morelle; Sarah Boissel; Jon Teague; Sarah Edkins; P Andrew Futreal; Michael R Stratton; Gillian Turner; Gert Matthijs; Jozef Gecz; Arnold Munnich; Laurence Colleaux
Journal:  Am J Hum Genet       Date:  2008-05-01       Impact factor: 11.025

7.  Mammalian MagT1 and TUSC3 are required for cellular magnesium uptake and vertebrate embryonic development.

Authors:  Hao Zhou; David E Clapham
Journal:  Proc Natl Acad Sci U S A       Date:  2009-08-26       Impact factor: 11.205

Review 8.  Perspectives on Glycosylation and Its Congenital Disorders.

Authors:  Bobby G Ng; Hudson H Freeze
Journal:  Trends Genet       Date:  2018-03-29       Impact factor: 11.639

9.  Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.

Authors:  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 Gr Day; Pankaj Mehta; Evan Masutani; Suk S De Ravin; Harry L Malech; Grégoire Altan-Bonnet; V Koneti Rao; Matthias Mann; Michael J Lenardo
Journal:  J Clin Invest       Date:  2020-01-02       Impact factor: 14.808

10.  Mammalian cells lacking either the cotranslational or posttranslocational oligosaccharyltransferase complex display substrate-dependent defects in asparagine linked glycosylation.

Authors:  Natalia A Cherepanova; Reid Gilmore
Journal:  Sci Rep       Date:  2016-02-11       Impact factor: 4.379

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