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Page 1
Adult-onset neurodegeneration in XMEN disease.
Benavides D, Ebrahim A, Ravell JC, Lenardo M, Gahl WA, Toro C. Benavides D, et al. Among authors: ravell jc. J Neuroimmunol. 2024 Jan 15;386:578251. doi: 10.1016/j.jneuroim.2023.578251. Epub 2023 Nov 24. J Neuroimmunol. 2024. PMID: 38041964
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.
Ravell JC, Matsuda-Lennikov M, Chauvin SD, Zou J, Biancalana M, Deeb SJ, Price S, Su HC, Notarangelo G, Jiang P, Morawski A, Kanellopoulou C, Binder K, Mukherjee R, Anibal JT, Sellers B, Zheng L, He T, George AB, Pittaluga S, Powers A, Kleiner DE, Kapuria D, Ghany M, Hunsberger S, Cohen JI, Uzel G, Bergerson J, Wolfe L, Toro C, Gahl W, Folio LR, Matthews H, Angelus P, Chinn IK, Orange JS, Trujillo-Vargas CM, Franco JL, Orrego-Arango J, Gutiérrez-Hincapié S, Patel NC, Raymond K, Patiroglu T, Unal E, Karakukcu M, Day AG, Mehta P, Masutani E, De Ravin SS, Malech HL, Altan-Bonnet G, Rao VK, Mann M, Lenardo MJ. Ravell JC, et al. J Clin Invest. 2020 Jan 2;130(1):507-522. doi: 10.1172/JCI131116. J Clin Invest. 2020. PMID: 31714901 Free PMC article.
An Update on XMEN Disease.
Ravell JC, Chauvin SD, He T, Lenardo M. Ravell JC, et al. J Clin Immunol. 2020 Jul;40(5):671-681. doi: 10.1007/s10875-020-00790-x. Epub 2020 May 26. J Clin Immunol. 2020. PMID: 32451662 Free PMC article. Review.
CRISPR-targeted MAGT1 insertion restores XMEN patient hematopoietic stem cells and lymphocytes.
Brault J, Liu T, Bello E, Liu S, Sweeney CL, Meis RJ, Koontz S, Corsino C, Choi U, Vayssiere G, Bosticardo M, Dowdell K, Lazzarotto CR, Clark AB, Notarangelo LD, Ravell JC, Lenardo MJ, Kleinstiver BP, Tsai SQ, Wu X, Dahl GA, Malech HL, De Ravin SS. Brault J, et al. Among authors: ravell jc. Blood. 2021 Dec 30;138(26):2768-2780. doi: 10.1182/blood.2021011192. Blood. 2021. PMID: 34086870 Free PMC article.
Magnesium transporter 1 (MAGT1) deficiency causes selective defects in N-linked glycosylation and expression of immune-response genes.
Matsuda-Lennikov M, Biancalana M, Zou J, Ravell JC, Zheng L, Kanellopoulou C, Jiang P, Notarangelo G, Jing H, Masutani E, Oler AJ, Olano LR, Schulz BL, Lenardo MJ. Matsuda-Lennikov M, et al. Among authors: ravell jc. J Biol Chem. 2019 Sep 13;294(37):13638-13656. doi: 10.1074/jbc.RA119.008903. Epub 2019 Jul 23. J Biol Chem. 2019. PMID: 31337704 Free PMC article.
MAGT1 messenger RNA-corrected autologous T and natural killer cells for potential cell therapy in X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia disease.
Brault J, Meis RJ, Li L, Bello E, Liu T, Sweeney CL, Koontz SM, Dowdell K, Theobald N, Lee J, Allen C, Clark AB, Ravell JC, Lenardo MJ, Dahl GA, Malech HL, De Ravin SS. Brault J, et al. Among authors: ravell jc. Cytotherapy. 2021 Mar;23(3):203-210. doi: 10.1016/j.jcyt.2020.08.013. Epub 2020 Oct 10. Cytotherapy. 2021. PMID: 33051095
Mg2+ regulation of kinase signaling and immune function.
Kanellopoulou C, George AB, Masutani E, Cannons JL, Ravell JC, Yamamoto TN, Smelkinson MG, Jiang PD, Matsuda-Lennikov M, Reilley J, Handon R, Lee PH, Miller JR, Restifo NP, Zheng L, Schwartzberg PL, Young M, Lenardo MJ. Kanellopoulou C, et al. Among authors: ravell jc. J Exp Med. 2019 Aug 5;216(8):1828-1842. doi: 10.1084/jem.20181970. Epub 2019 Jun 13. J Exp Med. 2019. PMID: 31196981 Free PMC article.
15 results