-
1
-
-
0036370537
-
Prediction of glycosylation across the human proteome and the correlation to protein function
-
11928486
-
Gupta R Brunak S. Prediction of glycosylation across the human proteome and the correlation to protein function. Pac Symp Biocomput (2002). 310–22.10.1142/9789812799623_002911928486
-
(2002)
Pac Symp Biocomput
, pp. 310-322
-
-
Gupta, R.1
Brunak, S.2
-
2
-
-
67650320143
-
-
2nd ed, Cold Spring Harbor, NY, Cold Spring Harbor Laboratory Press, (.,)., :, p
-
Varki A. Essentials of Glycobiology. 2nd ed. (Vol. xxix). Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press (2009). 784 p.
-
(2009)
Essentials of Glycobiology
, vol.xxix
, pp. 784
-
-
Varki, A.1
-
3
-
-
33748195979
-
Glycosylation in cellular mechanisms of health and disease
-
16959566
-
Ohtsubo K Marth JD. Glycosylation in cellular mechanisms of health and disease. Cell (2006) 126(5):855–67.10.1016/j.cell.2006.08.01916959566
-
(2006)
Cell
, vol.126
, Issue.5
, pp. 855-867
-
-
Ohtsubo, K.1
Marth, J.D.2
-
4
-
-
84893734160
-
Solving glycosylation disorders: fundamental approaches reveal complicated pathways
-
24507773
-
Freeze HH Chong JX Bamshad MJ Ng BG. Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet (2014) 94(2):161–75.10.1016/j.ajhg.2013.10.02424507773
-
(2014)
Am J Hum Genet
, vol.94
, Issue.2
, pp. 161-175
-
-
Freeze, H.H.1
Chong, J.X.2
Bamshad, M.J.3
Ng, B.G.4
-
5
-
-
54949106904
-
Mammalian glycosylation in immunity
-
18846099
-
Marth JD Grewal PK. Mammalian glycosylation in immunity. Nat Rev Immunol (2008) 8(11):874–87.10.1038/nri241718846099
-
(2008)
Nat Rev Immunol
, vol.8
, Issue.11
, pp. 874-887
-
-
Marth, J.D.1
Grewal, P.K.2
-
6
-
-
44049095632
-
Protein-glycan interactions in the control of innate and adaptive immune responses
-
18490910
-
van Kooyk Y Rabinovich GA. Protein-glycan interactions in the control of innate and adaptive immune responses. Nat Immunol (2008) 9(6):593–601.10.1038/ni.f.20318490910
-
(2008)
Nat Immunol
, vol.9
, Issue.6
, pp. 593-601
-
-
van Kooyk, Y.1
Rabinovich, G.A.2
-
7
-
-
0035937505
-
Intracellular functions of N-linked glycans
-
Helenius A Aebi M. Intracellular functions of N-linked glycans. Science (2001) 291(5512):2364–9.10.1126/science.291.5512.2364
-
(2001)
Science
, vol.291
, Issue.5512
, pp. 2364-2369
-
-
Helenius, A.1
Aebi, M.2
-
8
-
-
84922069715
-
Emerging functions of the unfolded protein response in immunity
-
25232821
-
Janssens S Pulendran B Lambrecht BN. Emerging functions of the unfolded protein response in immunity. Nat Immunol (2014) 15(10):910–9.10.1038/ni.299125232821
-
(2014)
Nat Immunol
, vol.15
, Issue.10
, pp. 910-919
-
-
Janssens, S.1
Pulendran, B.2
Lambrecht, B.N.3
-
9
-
-
84896270715
-
Quality control: ER-associated degradation: protein quality control and beyond
-
24637321
-
Ruggiano A Foresti O Carvalho P. Quality control: ER-associated degradation: protein quality control and beyond. J Cell Biol (2014) 204(6):869–79.10.1083/jcb.20131204224637321
-
(2014)
J Cell Biol
, vol.204
, Issue.6
, pp. 869-879
-
-
Ruggiano, A.1
Foresti, O.2
Carvalho, P.3
-
10
-
-
0035937586
-
Glycosylation of nucleocytoplasmic proteins: signal transduction and O-GlcNAc
-
11269319
-
Wells L Vosseller K Hart GW. Glycosylation of nucleocytoplasmic proteins: signal transduction and O-GlcNAc. Science (2001) 291(5512):2376–8.10.1126/science.105871411269319
-
(2001)
Science
, vol.291
, Issue.5512
, pp. 2376-2378
-
-
Wells, L.1
Vosseller, K.2
Hart, G.W.3
-
11
-
-
84918501751
-
O-GlcNAc and the epigenetic regulation of gene expression
-
25336654
-
Lewis BA Hanover JA. O-GlcNAc and the epigenetic regulation of gene expression. J Biol Chem (2014) 289(50):34440–8.10.1074/jbc.R114.59543925336654
-
(2014)
J Biol Chem
, vol.289
, Issue.50
, pp. 34440-34448
-
-
Lewis, B.A.1
Hanover, J.A.2
-
12
-
-
0033229717
-
C-type lectins and sialyl Lewis X oligosaccharides. Versatile roles in cell-cell interaction
-
Fukuda M Hiraoka N Yeh JC. C-type lectins and sialyl Lewis X oligosaccharides. Versatile roles in cell-cell interaction. J Cell Biol (1999) 147(3):467–70.10.1083/jcb.147.3.467
-
(1999)
J Cell Biol
, vol.147
, Issue.3
, pp. 467-470
-
-
Fukuda, M.1
Hiraoka, N.2
Yeh, J.C.3
-
14
-
-
67649743525
-
Glycosylation in immune cell trafficking
-
Sperandio M Gleissner CA Ley K. Glycosylation in immune cell trafficking. Immunol Rev (2009) 230(1):97–113.10.1111/j.1600-065X.2009.00795.x
-
(2009)
Immunol Rev
, vol.230
, Issue.1
, pp. 97-113
-
-
Sperandio, M.1
Gleissner, C.A.2
Ley, K.3
-
15
-
-
77953540247
-
Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature
-
20099014
-
Gazit Y Mory A Etzioni A Frydman M Scheuerman O Gershoni-Baruch R et al. Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature. J Clin Immunol (2010) 30(2):308–13.10.1007/s10875-009-9354-020099014
-
(2010)
J Clin Immunol
, vol.30
, Issue.2
, pp. 308-313
-
-
Gazit, Y.1
Mory, A.2
Etzioni, A.3
Frydman, M.4
Scheuerman, O.5
Gershoni-Baruch, R.6
-
16
-
-
84877274395
-
Endothelial heterogeneity and adhesion molecules N-glycosylation: implications in leukocyte trafficking in inflammation
-
23445551
-
Scott DW Patel RP. Endothelial heterogeneity and adhesion molecules N-glycosylation: implications in leukocyte trafficking in inflammation. Glycobiology (2013) 23(6):622–33.10.1093/glycob/cwt01423445551
-
(2013)
Glycobiology
, vol.23
, Issue.6
, pp. 622-633
-
-
Scott, D.W.1
Patel, R.P.2
-
17
-
-
4544287060
-
Four N-linked glycosylation sites in human toll-like receptor 2 cooperate to direct efficient biosynthesis and secretion
-
15173186
-
Weber AN Morse MA Gay NJ. Four N-linked glycosylation sites in human toll-like receptor 2 cooperate to direct efficient biosynthesis and secretion. J Biol Chem (2004) 279(33):34589–94.10.1074/jbc.M40383020015173186
-
(2004)
J Biol Chem
, vol.279
, Issue.33
, pp. 34589-34594
-
-
Weber, A.N.1
Morse, M.A.2
Gay, N.J.3
-
18
-
-
6044239186
-
Regulation of cytokine receptors by Golgi N-glycan processing and endocytosis
-
15459394
-
Partridge EA Le Roy C Di Guglielmo GM Pawling J Cheung P Granovsky M et al. Regulation of cytokine receptors by Golgi N-glycan processing and endocytosis. Science (2004) 306(5693):120–4.10.1126/science.110210915459394
-
(2004)
Science
, vol.306
, Issue.5693
, pp. 120-124
-
-
Partridge, E.A.1
Le Roy, C.2
Di Guglielmo, G.M.3
Pawling, J.4
Cheung, P.5
Granovsky, M.6
-
19
-
-
33744965385
-
Structural and functional analyses of the human toll-like receptor 3. Role of glycosylation
-
16533755
-
Sun J Duffy KE Ranjith-Kumar CT Xiong J Lamb RJ Santos J et al. Structural and functional analyses of the human toll-like receptor 3. Role of glycosylation. J Biol Chem (2006) 281(16):11144–51.10.1074/jbc.M51044220016533755
-
(2006)
J Biol Chem
, vol.281
, Issue.16
, pp. 11144-11151
-
-
Sun, J.1
Duffy, K.E.2
Ranjith-Kumar, C.T.3
Xiong, J.4
Lamb, R.J.5
Santos, J.6
-
20
-
-
84887670038
-
Partial IFN-gammaR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation
-
23963039
-
Moncada-Velez M Martinez-Barricarte R Bogunovic D Kong XF Blancas-Galicia L Tirpan C et al. Partial IFN-gammaR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation. Blood (2013) 122(14):2390–401.10.1182/blood-2013-01-48081423963039
-
(2013)
Blood
, vol.122
, Issue.14
, pp. 2390-2401
-
-
Moncada-Velez, M.1
Martinez-Barricarte, R.2
Bogunovic, D.3
Kong, X.F.4
Blancas-Galicia, L.5
Tirpan, C.6
-
21
-
-
22844449795
-
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations
-
15924140
-
Vogt G Chapgier A Yang K Chuzhanova N Feinberg J Fieschi C et al. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet (2005) 37(7):692–700.10.1038/ng158115924140
-
(2005)
Nat Genet
, vol.37
, Issue.7
, pp. 692-700
-
-
Vogt, G.1
Chapgier, A.2
Yang, K.3
Chuzhanova, N.4
Feinberg, J.5
Fieschi, C.6
-
23
-
-
84877614089
-
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome
-
23440042
-
Kotlarz D Zietara N Uzel G Weidemann T Braun CJ Diestelhorst J et al. Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. J Exp Med (2013) 210(3):433–43.10.1084/jem.2011122923440042
-
(2013)
J Exp Med
, vol.210
, Issue.3
, pp. 433-443
-
-
Kotlarz, D.1
Zietara, N.2
Uzel, G.3
Weidemann, T.4
Braun, C.J.5
Diestelhorst, J.6
-
24
-
-
0036793242
-
Sweet ‘n’ sour: the impact of differential glycosylation on T cell responses
-
12352967
-
Daniels MA Hogquist KA Jameson SC. Sweet ‘n’ sour: the impact of differential glycosylation on T cell responses. Nat Immunol (2002) 3(10):903–10.10.1038/ni1002-90312352967
-
(2002)
Nat Immunol
, vol.3
, Issue.10
, pp. 903-910
-
-
Daniels, M.A.1
Hogquist, K.A.2
Jameson, S.C.3
-
25
-
-
33947724303
-
Complex N-glycan number and degree of branching cooperate to regulate cell proliferation and differentiation
-
17418791
-
Lau KS Partridge EA Grigorian A Silvescu CI Reinhold VN Demetriou M et al. Complex N-glycan number and degree of branching cooperate to regulate cell proliferation and differentiation. Cell (2007) 129(1):123–34.10.1016/j.cell.2007.01.04917418791
-
(2007)
Cell
, vol.129
, Issue.1
, pp. 123-134
-
-
Lau, K.S.1
Partridge, E.A.2
Grigorian, A.3
Silvescu, C.I.4
Reinhold, V.N.5
Demetriou, M.6
-
26
-
-
84887987723
-
Adaptive immune activation: glycosylation does matter
-
24231619
-
Wolfert MA Boons GJ. Adaptive immune activation: glycosylation does matter. Nat Chem Biol (2013) 9(12):776–84.10.1038/nchembio.140324231619
-
(2013)
Nat Chem Biol
, vol.9
, Issue.12
, pp. 776-784
-
-
Wolfert, M.A.1
Boons, G.J.2
-
27
-
-
84908218334
-
N-glycosylation bidirectionally extends the boundaries of thymocyte positive selection by decoupling Lck from Ca(2)(+) signaling
-
25263124
-
Zhou RW Mkhikian H Grigorian A Hong A Chen D Arakelyan A et al. N-glycosylation bidirectionally extends the boundaries of thymocyte positive selection by decoupling Lck from Ca(2)(+) signaling. Nat Immunol (2014) 15(11):1038–45.10.1038/ni.300725263124
-
(2014)
Nat Immunol
, vol.15
, Issue.11
, pp. 1038-1045
-
-
Zhou, R.W.1
Mkhikian, H.2
Grigorian, A.3
Hong, A.4
Chen, D.5
Arakelyan, A.6
-
28
-
-
41149112936
-
Endogenous galectin-1 enforces class I-restricted TCR functional fate decisions in thymocytes
-
18323414
-
Liu SD Whiting CC Tomassian T Pang M Bissel SJ Baum LG et al. Endogenous galectin-1 enforces class I-restricted TCR functional fate decisions in thymocytes. Blood (2008) 112(1):120–30.10.1182/blood-2007-09-11418118323414
-
(2008)
Blood
, vol.112
, Issue.1
, pp. 120-130
-
-
Liu, S.D.1
Whiting, C.C.2
Tomassian, T.3
Pang, M.4
Bissel, S.J.5
Baum, L.G.6
-
29
-
-
0035900637
-
Developmentally regulated glycosylation of the CD8alphabeta coreceptor stalk modulates ligand binding
-
11719190
-
Moody AM Chui D Reche PA Priatel JJ Marth JD Reinherz EL. Developmentally regulated glycosylation of the CD8alphabeta coreceptor stalk modulates ligand binding. Cell (2001) 107(4):501–12.10.1016/S0092-8674(01)00577-311719190
-
(2001)
Cell
, vol.107
, Issue.4
, pp. 501-512
-
-
Moody, A.M.1
Chui, D.2
Reche, P.A.3
Priatel, J.J.4
Marth, J.D.5
Reinherz, E.L.6
-
31
-
-
84899065140
-
Glycosylation, hypogammaglobulinemia, and resistance to viral infections
-
24716661
-
Sadat MA Moir S Chun TW Lusso P Kaplan G Wolfe L et al. Glycosylation, hypogammaglobulinemia, and resistance to viral infections. N Engl J Med (2014) 370(17):1615–25.10.1056/NEJMoa130284624716661
-
(2014)
N Engl J Med
, vol.370
, Issue.17
, pp. 1615-1625
-
-
Sadat, M.A.1
Moir, S.2
Chun, T.W.3
Lusso, P.4
Kaplan, G.5
Wolfe, L.6
-
32
-
-
84878758122
-
Engineering a monomeric Fc domain modality by N-glycosylation for the half-life extension of biotherapeutics
-
23615911
-
Ishino T Wang M Mosyak L Tam A Duan W Svenson K et al. Engineering a monomeric Fc domain modality by N-glycosylation for the half-life extension of biotherapeutics. J Biol Chem (2013) 288(23):16529–37.10.1074/jbc.M113.45768923615911
-
(2013)
J Biol Chem
, vol.288
, Issue.23
, pp. 16529-16537
-
-
Ishino, T.1
Wang, M.2
Mosyak, L.3
Tam, A.4
Duan, W.5
Svenson, K.6
-
33
-
-
79960046406
-
Intravenous gammaglobulin suppresses inflammation through a novel T(H)2 pathway
-
21685887
-
Anthony RM Kobayashi T Wermeling F Ravetch JV. Intravenous gammaglobulin suppresses inflammation through a novel T(H)2 pathway. Nature (2011) 475(7354):110–3.10.1038/nature1013421685887
-
(2011)
Nature
, vol.475
, Issue.7354
, pp. 110-113
-
-
Anthony, R.M.1
Kobayashi, T.2
Wermeling, F.3
Ravetch, J.V.4
-
34
-
-
0036802351
-
Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein
-
12370122
-
Martin CC Oeser JK Svitek CA Hunter SI Hutton JC O’Brien RM. Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein. J Mol Endocrinol (2002) 29(2):205–22.10.1677/jme.0.029020512370122
-
(2002)
J Mol Endocrinol
, vol.29
, Issue.2
, pp. 205-222
-
-
Martin, C.C.1
Oeser, J.K.2
Svitek, C.A.3
Hunter, S.I.4
Hutton, J.C.5
O’Brien, R.M.6
-
35
-
-
33745167272
-
Silencing of the human microsomal glucose-6-phosphate translocase induces glioma cell death: potential new anticancer target for curcumin
-
16777101
-
Belkaid A Copland IB Massillon D Annabi B. Silencing of the human microsomal glucose-6-phosphate translocase induces glioma cell death: potential new anticancer target for curcumin. FEBS Lett (2006) 580(15):3746–52.10.1016/j.febslet.2006.05.07116777101
-
(2006)
FEBS Lett
, vol.580
, Issue.15
, pp. 3746-3752
-
-
Belkaid, A.1
Copland, I.B.2
Massillon, D.3
Annabi, B.4
-
36
-
-
85028120628
-
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
-
20717171
-
Banka S Chervinsky E Newman WG Crow YJ Yeganeh S Yacobovich J et al. Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. Eur J Hum Genet (2011) 19(1):18–22.10.1038/ejhg.2010.13620717171
-
(2011)
Eur J Hum Genet
, vol.19
, Issue.1
, pp. 18-22
-
-
Banka, S.1
Chervinsky, E.2
Newman, W.G.3
Crow, Y.J.4
Yeganeh, S.5
Yacobovich, J.6
-
37
-
-
78349290397
-
Mutations in the G6PC3 gene cause Dursun syndrome
-
20799326
-
Banka S Newman WG Ozgul RK Dursun A. Mutations in the G6PC3 gene cause Dursun syndrome. Am J Med Genet A (2010) 152A(10):2609–11.10.1002/ajmg.a.3361520799326
-
(2010)
Am J Med Genet A
, vol.152A
, Issue.10
, pp. 2609-2611
-
-
Banka, S.1
Newman, W.G.2
Ozgul, R.K.3
Dursun, A.4
-
38
-
-
77957943766
-
Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis
-
20616219
-
McDermott DH De Ravin SS Jun HS Liu Q Priel DA Noel P et al. Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. Blood (2010) 116(15):2793–802.10.1182/blood-2010-01-26594220616219
-
(2010)
Blood
, vol.116
, Issue.15
, pp. 2793-2802
-
-
McDermott, D.H.1
De Ravin, S.S.2
Jun, H.S.3
Liu, Q.4
Priel, D.A.5
Noel, P.6
-
39
-
-
58149240054
-
Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement
-
19011569
-
Dursun A Ozgul RK Soydas A Tugrul T Gurgey A Celiker A et al. Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement. Clin Dysmorphol (2009) 18(1):19–23.10.1097/MCD.0b013e32831841f719011569
-
(2009)
Clin Dysmorphol
, vol.18
, Issue.1
, pp. 19-23
-
-
Dursun, A.1
Ozgul, R.K.2
Soydas, A.3
Tugrul, T.4
Gurgey, A.5
Celiker, A.6
-
41
-
-
84858335877
-
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia
-
22050868
-
Boztug K Rosenberg PS Dorda M Banka S Moulton T Curtin J et al. Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. J Pediatr (2012) 160(4):679–83 e2.10.1016/j.jpeds.2011.09.01922050868
-
(2012)
J Pediatr
, vol.160
, Issue.4
, pp. 679-670
-
-
Boztug, K.1
Rosenberg, P.S.2
Dorda, M.3
Banka, S.4
Moulton, T.5
Curtin, J.6
-
42
-
-
73849088813
-
Neutropenia in type Ib glycogen storage disease
-
19741523
-
Chou JY Jun HS Mansfield BC. Neutropenia in type Ib glycogen storage disease. Curr Opin Hematol (2010) 17(1):36–42.10.1097/MOH.0b013e328331df8519741523
-
(2010)
Curr Opin Hematol
, vol.17
, Issue.1
, pp. 36-42
-
-
Chou, J.Y.1
Jun, H.S.2
Mansfield, B.C.3
-
43
-
-
0033837865
-
Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European study on glycogen storage disease type I
-
10931410
-
Visser G Rake JP Fernandes J Labrune P Leonard JV Moses S et al. Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European study on glycogen storage disease type I. J Pediatr (2000) 137(2):187–91.10.1067/mpd.2000.10523210931410
-
(2000)
J Pediatr
, vol.137
, Issue.2
, pp. 187-191
-
-
Visser, G.1
Rake, J.P.2
Fernandes, J.3
Labrune, P.4
Leonard, J.V.5
Moses, S.6
-
44
-
-
79958838942
-
G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction
-
21385794
-
Hayee B Antonopoulos A Murphy EJ Rahman FZ Sewell G Smith BN et al. G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction. Glycobiology (2011) 21(7):914–24.10.1093/glycob/cwr02321385794
-
(2011)
Glycobiology
, vol.21
, Issue.7
, pp. 914-924
-
-
Hayee, B.1
Antonopoulos, A.2
Murphy, E.J.3
Rahman, F.Z.4
Sewell, G.5
Smith, B.N.6
-
45
-
-
84899618667
-
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment
-
9, 9 e1–5
-
Zhang Y Yu X Ichikawa M Lyons JJ Datta S Lamborn IT et al. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. J Allergy Clin Immunol (2014) 133(5):1400–9, 9 e1–5.10.1016/j.jaci.2014.02.013
-
(2014)
J Allergy Clin Immunol
, vol.133
, Issue.5
, pp. 1400
-
-
Zhang, Y.1
Yu, X.2
Ichikawa, M.3
Lyons, J.J.4
Datta, S.5
Lamborn, I.T.6
-
46
-
-
84899629014
-
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels
-
9, 9 e1–13, 24698316
-
Sassi A Lazaroski S Wu G Haslam SM Fliegauf M Mellouli F et al. Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. J Allergy Clin Immunol (2014) 133(5):1410–9, 9 e1–13.10.1016/j.jaci.2014.02.02524698316
-
(2014)
J Allergy Clin Immunol
, vol.133
, Issue.5
, pp. 1410
-
-
Sassi, A.1
Lazaroski, S.2
Wu, G.3
Haslam, S.M.4
Fliegauf, M.5
Mellouli, F.6
-
47
-
-
84904036824
-
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
-
24931394
-
Stray-Pedersen A Backe PH Sorte HS Morkrid L Chokshi NY Erichsen HC et al. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet (2014) 95(1):96–107.10.1016/j.ajhg.2014.05.00724931394
-
(2014)
Am J Hum Genet
, vol.95
, Issue.1
, pp. 96-107
-
-
Stray-Pedersen, A.1
Backe, P.H.2
Sorte, H.S.3
Morkrid, L.4
Chokshi, N.Y.5
Erichsen, H.C.6
-
48
-
-
34547913040
-
Agm1/Pgm3-mediated sugar nucleotide synthesis is essential for hematopoiesis and development
-
17548465
-
Greig KT Antonchuk J Metcalf D Morgan PO Krebs DL Zhang JG et al. Agm1/Pgm3-mediated sugar nucleotide synthesis is essential for hematopoiesis and development. Mol Cell Biol (2007) 27(16):5849–59.10.1128/MCB.00802-0717548465
-
(2007)
Mol Cell Biol
, vol.27
, Issue.16
, pp. 5849-5859
-
-
Greig, K.T.1
Antonchuk, J.2
Metcalf, D.3
Morgan, P.O.4
Krebs, D.L.5
Zhang, J.G.6
-
49
-
-
70349089028
-
The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia)
-
19272306
-
Grunewald S. The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia). Biochim Biophys Acta (2009) 1792(9):827–34.10.1016/j.bbadis.2009.01.00319272306
-
(2009)
Biochim Biophys Acta
, vol.1792
, Issue.9
, pp. 827-834
-
-
Grunewald, S.1
-
50
-
-
34249895141
-
Recurrent infections and immunological dysfunction in congenital disorder of glycosylation Ia (CDG Ia)
-
16826448
-
Blank C Smith LA Hammer DA Fehrenbach M Delisser HM Perez E et al. Recurrent infections and immunological dysfunction in congenital disorder of glycosylation Ia (CDG Ia). J Inherit Metab Dis (2006) 29(4):592.10.1007/s10545-006-0275-216826448
-
(2006)
J Inherit Metab Dis
, vol.29
, Issue.4
, pp. 592
-
-
Blank, C.1
Smith, L.A.2
Hammer, D.A.3
Fehrenbach, M.4
Delisser, H.M.5
Perez, E.6
-
51
-
-
1542329546
-
Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik
-
14709599
-
Grubenmann CE Frank CG Hulsmeier AJ Schollen E Matthijs G Mayatepek E et al. Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. Hum Mol Genet (2004) 13(5):535–42.10.1093/hmg/ddh05014709599
-
(2004)
Hum Mol Genet
, vol.13
, Issue.5
, pp. 535-542
-
-
Grubenmann, C.E.1
Frank, C.G.2
Hulsmeier, A.J.3
Schollen, E.4
Matthijs, G.5
Mayatepek, E.6
-
52
-
-
1542344374
-
Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I
-
14973782
-
Kranz C Denecke J Lehle L Sohlbach K Jeske S Meinhardt F et al. Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. Am J Hum Genet (2004) 74(3):545–51.10.1086/38249314973782
-
(2004)
Am J Hum Genet
, vol.74
, Issue.3
, pp. 545-551
-
-
Kranz, C.1
Denecke, J.2
Lehle, L.3
Sohlbach, K.4
Jeske, S.5
Meinhardt, F.6
-
53
-
-
1542374061
-
Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik
-
Schwarz M Thiel C Lubbehusen J Dorland B de Koning T von Figura K et al. Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. Am J Hum Genet (2004) 74(3):472–81.10.1086/382492
-
(2004)
Am J Hum Genet
, vol.74
, Issue.3
, pp. 472-481
-
-
Schwarz, M.1
Thiel, C.2
Lubbehusen, J.3
Dorland, B.4
de Koning, T.5
von Figura, K.6
-
54
-
-
78149327905
-
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations
-
20679665
-
Dupre T Vuillaumier-Barrot S Chantret I Yaye HS Le Bizec C Afenjar A et al. Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations. J Med Genet (2010) 47(11):729–35.10.1136/jmg.2009.07250420679665
-
(2010)
J Med Genet
, vol.47
, Issue.11
, pp. 729-735
-
-
Dupre, T.1
Vuillaumier-Barrot, S.2
Chantret, I.3
Yaye, H.S.4
Le Bizec, C.5
Afenjar, A.6
-
55
-
-
34249884225
-
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality
-
17506107
-
Kranz C Basinger AA Gucsavas-Calikoglu M Sun L Powell CM Henderson FW et al. Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. Am J Med Genet A (2007) 143A(12):1371–8.10.1002/ajmg.a.3179117506107
-
(2007)
Am J Med Genet A
, vol.143A
, Issue.12
, pp. 1371-1378
-
-
Kranz, C.1
Basinger, A.A.2
Gucsavas-Calikoglu, M.3
Sun, L.4
Powell, C.M.5
Henderson, F.W.6
-
56
-
-
0033939884
-
A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency
-
10788335
-
De Praeter CM Gerwig GJ Bause E Nuytinck LK Vliegenthart JF Breuer W et al. A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency. Am J Hum Genet (2000) 66(6):1744–56.10.1086/30294810788335
-
(2000)
Am J Hum Genet
, vol.66
, Issue.6
, pp. 1744-1756
-
-
De Praeter, C.M.1
Gerwig, G.J.2
Bause, E.3
Nuytinck, L.K.4
Vliegenthart, J.F.5
Breuer, W.6
-
57
-
-
15944399952
-
Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter
-
15576474
-
Martinez-Duncker I Dupre T Piller V Piller F Candelier JJ Trichet C et al. Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter. Blood (2005) 105(7):2671–6.10.1182/blood-2004-09-350915576474
-
(2005)
Blood
, vol.105
, Issue.7
, pp. 2671-2676
-
-
Martinez-Duncker, I.1
Dupre, T.2
Piller, V.3
Piller, F.4
Candelier, J.J.5
Trichet, C.6
-
58
-
-
84922393563
-
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia
-
25129144
-
Boztug K Jarvinen PM Salzer E Racek T Monch S Garncarz W et al. JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. Nat Genet (2014) 46(9):1021–7.10.1038/ng.306925129144
-
(2014)
Nat Genet
, vol.46
, Issue.9
, pp. 1021-1027
-
-
Boztug, K.1
Jarvinen, P.M.2
Salzer, E.3
Racek, T.4
Monch, S.5
Garncarz, W.6
-
59
-
-
84922393211
-
Jagunal homolog 1 is a critical regulator of neutrophil function in fungal host defense
-
25129145
-
Wirnsberger G Zwolanek F Stadlmann J Tortola L Liu SW Perlot T et al. Jagunal homolog 1 is a critical regulator of neutrophil function in fungal host defense. Nat Genet (2014) 46(9):1028–33.10.1038/ng.307025129145
-
(2014)
Nat Genet
, vol.46
, Issue.9
, pp. 1028-1033
-
-
Wirnsberger, G.1
Zwolanek, F.2
Stadlmann, J.3
Tortola, L.4
Liu, S.W.5
Perlot, T.6
-
61
-
-
0034210961
-
Fucose supplementation in leukocyte adhesion deficiency type II
-
Etzioni A Tonetti M. Fucose supplementation in leukocyte adhesion deficiency type II. Blood (2000) 95(11):3641–3.
-
(2000)
Blood
, vol.95
, Issue.11
, pp. 3641-3643
-
-
Etzioni, A.1
Tonetti, M.2
-
62
-
-
0035165830
-
Discontinuation of fucose therapy in LADII causes rapid loss of selectin ligands and rise of leukocyte counts
-
11133780
-
Luhn K Marquardt T Harms E Vestweber D. Discontinuation of fucose therapy in LADII causes rapid loss of selectin ligands and rise of leukocyte counts. Blood (2001) 97(1):330–2.10.1182/blood.V97.1.33011133780
-
(2001)
Blood
, vol.97
, Issue.1
, pp. 330-332
-
-
Luhn, K.1
Marquardt, T.2
Harms, E.3
Vestweber, D.4
-
63
-
-
0037370699
-
Insights into leukocyte adhesion deficiency type 2 from a novel mutation in the GDP-fucose transporter gene
-
12406889
-
Hidalgo A Ma S Peired AJ Weiss LA Cunningham-Rundles C Frenette PS. Insights into leukocyte adhesion deficiency type 2 from a novel mutation in the GDP-fucose transporter gene. Blood (2003) 101(5):1705–12.10.1182/blood-2002-09-284012406889
-
(2003)
Blood
, vol.101
, Issue.5
, pp. 1705-1712
-
-
Hidalgo, A.1
Ma, S.2
Peired, A.J.3
Weiss, L.A.4
Cunningham-Rundles, C.5
Frenette, P.S.6
-
64
-
-
0000070998
-
Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy
-
9525984
-
Niehues R Hasilik M Alton G Korner C Schiebe-Sukumar M Koch HG et al. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. J Clin Invest (1998) 101(7):1414–20.10.1172/JCI23509525984
-
(1998)
J Clin Invest
, vol.101
, Issue.7
, pp. 1414-1420
-
-
Niehues, R.1
Hasilik, M.2
Alton, G.3
Korner, C.4
Schiebe-Sukumar, M.5
Koch, H.G.6
-
65
-
-
0036402747
-
Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency
-
12434892
-
Harms HK Zimmer KP Kurnik K Bertele-Harms RM Weidinger S Reiter K. Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency. Acta Paediatr (2002) 91(10):1065–72.10.1111/j.1651-2227.2002.tb00101.x12434892
-
(2002)
Acta Paediatr
, vol.91
, Issue.10
, pp. 1065-1072
-
-
Harms, H.K.1
Zimmer, K.P.2
Kurnik, K.3
Bertele-Harms, R.M.4
Weidinger, S.5
Reiter, K.6
-
66
-
-
0031656766
-
Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A
-
9736238
-
Kjaergaard S Kristiansson B Stibler H Freeze HH Schwartz M Martinsson T et al. Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A. Acta Paediatr (1998) 87(8):884–8.10.1111/j.1651-2227.1998.tb01556.x9736238
-
(1998)
Acta Paediatr
, vol.87
, Issue.8
, pp. 884-888
-
-
Kjaergaard, S.1
Kristiansson, B.2
Stibler, H.3
Freeze, H.H.4
Schwartz, M.5
Martinsson, T.6
-
68
-
-
11144239774
-
Influenza virus entry and infection require host cell N-linked glycoprotein
-
15601777
-
Chu VC Whittaker GR. Influenza virus entry and infection require host cell N-linked glycoprotein. Proc Natl Acad Sci U S A (2004) 101(52):18153–8.10.1073/pnas.040517210215601777
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, Issue.52
, pp. 18153-18158
-
-
Chu, V.C.1
Whittaker, G.R.2
-
69
-
-
0034598905
-
DC-SIGN, a dendritic cell-specific HIV-1-binding protein that enhances trans-infection of T cells
-
10721995
-
Geijtenbeek TB Kwon DS Torensma R van Vliet SJ van Duijnhoven GC Middel J et al. DC-SIGN, a dendritic cell-specific HIV-1-binding protein that enhances trans-infection of T cells. Cell (2000) 100(5):587–97.10.1016/S0092-8674(00)80694-710721995
-
(2000)
Cell
, vol.100
, Issue.5
, pp. 587-597
-
-
Geijtenbeek, T.B.1
Kwon, D.S.2
Torensma, R.3
van Vliet, S.J.4
van Duijnhoven, G.C.5
Middel, J.6
-
70
-
-
0028950737
-
Antiviral activity and metabolism of the castanospermine derivative MDL 28,574, in cells infected with herpes simplex virus type 2
-
7887939
-
Ahmed SP Nash RJ Bridges CG Taylor DL Kang MS Porter EA et al. Antiviral activity and metabolism of the castanospermine derivative MDL 28,574, in cells infected with herpes simplex virus type 2. Biochem Biophys Res Commun (1995) 208(1):267–73.10.1006/bbrc.1995.13337887939
-
(1995)
Biochem Biophys Res Commun
, vol.208
, Issue.1
, pp. 267-273
-
-
Ahmed, S.P.1
Nash, R.J.2
Bridges, C.G.3
Taylor, D.L.4
Kang, M.S.5
Porter, E.A.6
-
71
-
-
0029792445
-
N-butyldeoxynojirimycin-mediated inhibition of human immunodeficiency virus entry correlates with impaired gp120 shedding and gp41 exposure
-
8794362
-
Fischer PB Karlsson GB Dwek RA Platt FM. N-butyldeoxynojirimycin-mediated inhibition of human immunodeficiency virus entry correlates with impaired gp120 shedding and gp41 exposure. J Virol (1996) 70(10):7153–60.8794362
-
(1996)
J Virol
, vol.70
, Issue.10
, pp. 7153-7160
-
-
Fischer, P.B.1
Karlsson, G.B.2
Dwek, R.A.3
Platt, F.M.4
-
72
-
-
79952322370
-
Inhibitors of endoplasmic reticulum alpha-glucosidases potently suppress hepatitis C virus virion assembly and release
-
21173177
-
Qu X Pan X Weidner J Yu W Alonzi D Xu X et al. Inhibitors of endoplasmic reticulum alpha-glucosidases potently suppress hepatitis C virus virion assembly and release. Antimicrob Agents Chemother (2011) 55(3):1036–44.10.1128/AAC.01319-1021173177
-
(2011)
Antimicrob Agents Chemother
, vol.55
, Issue.3
, pp. 1036-1044
-
-
Qu, X.1
Pan, X.2
Weidner, J.3
Yu, W.4
Alonzi, D.5
Xu, X.6
-
73
-
-
0028088988
-
The safety and efficacy of combination N-butyl-deoxynojirimycin (SC-48334) and zidovudine in patients with HIV-1 infection and 200-500 CD4 cells/mm3
-
7905523
-
Fischl MA Resnick L Coombs R Kremer AB Pottage JC Jr Fass RJ et al. The safety and efficacy of combination N-butyl-deoxynojirimycin (SC-48334) and zidovudine in patients with HIV-1 infection and 200-500 CD4 cells/mm3. J Acquir Immune Defic Syndr (1994) 7(2):139–47.7905523
-
(1994)
J Acquir Immune Defic Syndr
, vol.7
, Issue.2
, pp. 139-147
-
-
Fischl, M.A.1
Resnick, L.2
Coombs, R.3
Kremer, A.B.4
Pottage, J.C.5
Fass, R.J.6
-
74
-
-
84929223209
-
Nelfinavir impairs glycosylation of herpes simplex virus 1 envelope proteins and blocks virus maturation
-
25709648
-
Gantt S Gachelet E Carlsson J Barcy S Casper C Lagunoff M. Nelfinavir impairs glycosylation of herpes simplex virus 1 envelope proteins and blocks virus maturation. Adv Virol (2015) 2015:687162.10.1155/2015/68716225709648
-
(2015)
Adv Virol
, vol.2015
, pp. 687162
-
-
Gantt, S.1
Gachelet, E.2
Carlsson, J.3
Barcy, S.4
Casper, C.5
Lagunoff, M.6
-
75
-
-
0036677372
-
Glycosylation defining cancer malignancy: new wine in an old bottle
-
Hakomori S. Glycosylation defining cancer malignancy: new wine in an old bottle. Proc Natl Acad Sci U S A (2002) 99(16):10231–3.10.1073/pnas.172380699
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, Issue.16
, pp. 10231-10233
-
-
Hakomori, S.1
-
76
-
-
79958728985
-
Genetics and the environment converge to dysregulate N-glycosylation in multiple sclerosis
-
21629267
-
Mkhikian H Grigorian A Li CF Chen HL Newton B Zhou RW et al. Genetics and the environment converge to dysregulate N-glycosylation in multiple sclerosis. Nat Commun (2011) 2:334.10.1038/ncomms133321629267
-
(2011)
Nat Commun
, vol.2
, pp. 334
-
-
Mkhikian, H.1
Grigorian, A.2
Li, C.F.3
Chen, H.L.4
Newton, B.5
Zhou, R.W.6
-
78
-
-
84908565749
-
Paroxysmal nocturnal hemoglobinuria
-
25237200
-
Brodsky RA. Paroxysmal nocturnal hemoglobinuria. Blood (2014) 124(18):2804–11.10.1182/blood-2014-02-52212825237200
-
(2014)
Blood
, vol.124
, Issue.18
, pp. 2804-2811
-
-
Brodsky, R.A.1
-
79
-
-
0028962403
-
Glycosylation changes of IgG associated with rheumatoid arthritis can activate complement via the mannose-binding protein
-
7585040
-
Malhotra R Wormald MR Rudd PM Fischer PB Dwek RA Sim RB. Glycosylation changes of IgG associated with rheumatoid arthritis can activate complement via the mannose-binding protein. Nat Med (1995) 1(3):237–43.10.1038/nm0395-2377585040
-
(1995)
Nat Med
, vol.1
, Issue.3
, pp. 237-243
-
-
Malhotra, R.1
Wormald, M.R.2
Rudd, P.M.3
Fischer, P.B.4
Dwek, R.A.5
Sim, R.B.6
-
80
-
-
2342580146
-
Aberrant glycosylation in IgA nephropathy (IgAN)
-
15086888
-
Coppo R Amore A. Aberrant glycosylation in IgA nephropathy (IgAN). Kidney Int (2004) 65(5):1544–7.10.1111/j.1523-1755.2004.05407.x15086888
-
(2004)
Kidney Int
, vol.65
, Issue.5
, pp. 1544-1547
-
-
Coppo, R.1
Amore, A.2
-
81
-
-
77249128360
-
Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease
-
20138683
-
Janssen MJ Waanders E Woudenberg J Lefeber DJ Drenth JP. Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease. J Hepatol (2010) 52(3):432–40.10.1016/j.jhep.2009.12.01120138683
-
(2010)
J Hepatol
, vol.52
, Issue.3
, pp. 432-440
-
-
Janssen, M.J.1
Waanders, E.2
Woudenberg, J.3
Lefeber, D.J.4
Drenth, J.P.5
|