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Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry.

作者信息

Carlson Ryan J, Bond Michelle R, Hutchins Shermaine, Brown Yishai, Wolfe Lynne A, Lam Christina, Nelson Celeste, DiMaggio Thomas, Jones Nina, Rosenzweig Sergio D, Stone Kelly D, Freeman Alexandra F, Holland Steven M, Hanover John A, Milner Joshua D, Lyons Jonathan J

机构信息

Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.

Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Md.

出版信息

J Allergy Clin Immunol. 2017 Jul;140(1):291-294.e4. doi: 10.1016/j.jaci.2016.12.951. Epub 2017 Jan 4.

DOI:10.1016/j.jaci.2016.12.951
PMID:28063873
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5496781/
Abstract
摘要

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本文引用的文献

1
Neonatal-onset T(-)B(-)NK(+) severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3.由磷酸葡萄糖变位酶3突变引起的新生儿期发病的T(-)B(-)NK(+)重症联合免疫缺陷和中性粒细胞减少症。
J Allergy Clin Immunol. 2016 Jan;137(1):321-324. doi: 10.1016/j.jaci.2015.07.047. Epub 2015 Sep 26.
2
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.PGM3 基因突变可导致伴有严重免疫缺陷和骨骼发育不良的先天性糖基化紊乱。
Am J Hum Genet. 2014 Jul 3;95(1):96-107. doi: 10.1016/j.ajhg.2014.05.007. Epub 2014 Jun 12.
3
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.磷酸葡萄糖变位酶3（PGM3）的低表达纯合突变会损害免疫力并提高血清IgE水平。
J Allergy Clin Immunol. 2014 May;133(5):1410-9, 1419.e1-13. doi: 10.1016/j.jaci.2014.02.025. Epub 2014 Apr 1.
4
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.常染色体隐性磷酸葡萄糖变位酶3（PGM3）突变将糖基化缺陷与特应性、免疫缺陷、自身免疫和神经认知障碍联系起来。
J Allergy Clin Immunol. 2014 May;133(5):1400-9, 1409.e1-5. doi: 10.1016/j.jaci.2014.02.013. Epub 2014 Feb 28.
5
Agm1/Pgm3-mediated sugar nucleotide synthesis is essential for hematopoiesis and development.Agm1/Pgm3介导的糖核苷酸合成对于造血作用和发育至关重要。
Mol Cell Biol. 2007 Aug;27(16):5849-59. doi: 10.1128/MCB.00802-07. Epub 2007 Jun 4.
6
Complex N-glycan number and degree of branching cooperate to regulate cell proliferation and differentiation.复杂N-聚糖的数量和分支程度协同调节细胞增殖和分化。
Cell. 2007 Apr 6;129(1):123-34. doi: 10.1016/j.cell.2007.01.049.
7
Negative regulation of T-cell activation and autoimmunity by Mgat5 N-glycosylation.Mgat5 N-糖基化对T细胞活化和自身免疫的负调控。
Nature. 2001 Feb 8;409(6821):733-9. doi: 10.1038/35055582.
8
Characterization of the structural determinants required for the high affinity interaction of asparagine-linked oligosaccharides with immobilized Phaseolus vulgaris leukoagglutinating and erythroagglutinating lectins.天冬酰胺连接的寡糖与固定化菜豆白细胞凝集素和红细胞凝集素高亲和力相互作用所需结构决定簇的表征。
J Biol Chem. 1982 Oct 10;257(19):11230-4.