-
1
-
-
79961167779
-
Congenital disorders of glycosylation (CDG): It's (nearly) all in it!
-
J. Jaeken Congenital disorders of glycosylation (CDG): it's (nearly) all in it! J. Inherit. Metab. Dis. 34 4 2011 853 858
-
(2011)
J. Inherit. Metab. Dis.
, vol.34
, Issue.4
, pp. 853-858
-
-
Jaeken, J.1
-
2
-
-
80955145770
-
Congenital disorders of glycosylation: Sweet news
-
M. Theodore, and E. Morava Congenital disorders of glycosylation: sweet news Curr. Opin. Pediatr. 23 6 2011 581 587
-
(2011)
Curr. Opin. Pediatr.
, vol.23
, Issue.6
, pp. 581-587
-
-
Theodore, M.1
Morava, E.2
-
3
-
-
84865541699
-
Glycomics of pediatric and adulthood diseases of the central nervous system
-
R. Barone, L. Sturiale, A. Palmigiano, M. Zappia, and D. Garozzo Glycomics of pediatric and adulthood diseases of the central nervous system J. Proteomics 75 17 2012 5123 5139
-
(2012)
J. Proteomics
, vol.75
, Issue.17
, pp. 5123-5139
-
-
Barone, R.1
Sturiale, L.2
Palmigiano, A.3
Zappia, M.4
Garozzo, D.5
-
4
-
-
70249143583
-
CDG nomenclature: Time for a change!
-
J. Jaeken, T. Hennet, G. Matthijs, and H.H. Freeze CDG nomenclature: time for a change! Biochim. Biophys. Acta. 1792 9 2009 825 826
-
(2009)
Biochim. Biophys. Acta.
, vol.1792
, Issue.9
, pp. 825-826
-
-
Jaeken, J.1
Hennet, T.2
Matthijs, G.3
Freeze, H.H.4
-
5
-
-
78650401291
-
Congenital disorders of glycosylation
-
J. Jaeken Congenital disorders of glycosylation Ann. NY. Acad. Sci. 1214 2010 190 198
-
(2010)
Ann. NY. Acad. Sci.
, vol.1214
, pp. 190-198
-
-
Jaeken, J.1
-
6
-
-
36849029786
-
Deficiencies in subunits of the conserved oligomeric golgi (COG) complex define a novel group of congenital disorders of glycosylation
-
R. Zeevaert, F. Foulquier, J. Jaeken, and G. Matthijs Deficiencies in subunits of the conserved oligomeric golgi (COG) complex define a novel group of congenital disorders of glycosylation Mol. Genet. Metab. 93 1 2008 15 21
-
(2008)
Mol. Genet. Metab.
, vol.93
, Issue.1
, pp. 15-21
-
-
Zeevaert, R.1
Foulquier, F.2
Jaeken, J.3
Matthijs, G.4
-
7
-
-
33645450506
-
Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: A review
-
S. Wopereis, D.J. Lefeber, E. Morava, and R.A. Wevers Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review Clin. Chem. 52 4 2006 574 600
-
(2006)
Clin. Chem.
, vol.52
, Issue.4
, pp. 574-600
-
-
Wopereis, S.1
Lefeber, D.J.2
Morava, E.3
Wevers, R.A.4
-
8
-
-
84862905517
-
Diseases of glycosylation beyond classical congenital disorders of glycosylation
-
T. Hennet Diseases of glycosylation beyond classical congenital disorders of glycosylation Biochim. Biophys. Acta. 1820 9 2012 1306 1317
-
(2012)
Biochim. Biophys. Acta.
, vol.1820
, Issue.9
, pp. 1306-1317
-
-
Hennet, T.1
-
9
-
-
79957622998
-
Dystroglycanopathies: Coming into focus
-
C. Godfrey, A.R. Foley, E. Clement, and F. Muntoni Dystroglycanopathies: coming into focus Curr. Opin. Genet. Dev. 21 3 2011 278 285
-
(2011)
Curr. Opin. Genet. Dev.
, vol.21
, Issue.3
, pp. 278-285
-
-
Godfrey, C.1
Foley, A.R.2
Clement, E.3
Muntoni, F.4
-
10
-
-
84874883376
-
The O-mannosylation pathway: Glycosyltransferases and proteins implicated in congenital muscular dystrophy
-
L. Wells The O-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy J. Biol. Chem. 288 10 2013 6930 6935
-
(2013)
J. Biol. Chem.
, vol.288
, Issue.10
, pp. 6930-6935
-
-
Wells, L.1
-
11
-
-
84860348118
-
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome
-
T. Willer, H. Lee, M. Lommel, T. Yoshida-Moriguchi, D.B. de Bernabe, D. Venzke, and et al. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome Nat. Genet. 44 5 2012 575 580
-
(2012)
Nat. Genet.
, vol.44
, Issue.5
, pp. 575-580
-
-
Willer, T.1
Lee, H.2
Lommel, M.3
Yoshida-Moriguchi, T.4
De Bernabe, D.B.5
Venzke, D.6
-
12
-
-
67649584051
-
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies
-
D.J. Lefeber, J. Schonberger, E. Morava, M. Guillard, K.M. Huyben, K. Verrijp, and et al. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies Am. J. Hum. Genet. 85 1 2009 76 86
-
(2009)
Am. J. Hum. Genet.
, vol.85
, Issue.1
, pp. 76-86
-
-
Lefeber, D.J.1
Schonberger, J.2
Morava, E.3
Guillard, M.4
Huyben, K.M.5
Verrijp, K.6
-
13
-
-
84880285119
-
Mutations in GDP-mannose pyrophosphorylase B Cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of alpha-dystroglycan
-
K.J. Carss, E. Stevens, A.R. Foley, S. Cirak, M. Riemersma, S. Torelli, and et al. Mutations in GDP-mannose pyrophosphorylase B Cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of alpha-dystroglycan Am. J. Hum. Genet. 93 1 2013 29 41
-
(2013)
Am. J. Hum. Genet.
, vol.93
, Issue.1
, pp. 29-41
-
-
Carss, K.J.1
Stevens, E.2
Foley, A.R.3
Cirak, S.4
Riemersma, M.5
Torelli, S.6
-
14
-
-
26944438148
-
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome
-
J. van Reeuwijk, M. Janssen, C. van den Elzen, B.D. Beltran-Valero de, P. Sabatelli, L. Merlini, and et al. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome J. Med. Genet. 42 12 2005 907 912
-
(2005)
J. Med. Genet.
, vol.42
, Issue.12
, pp. 907-912
-
-
Van Reeuwijk, J.1
Janssen, M.2
Van Den Elzen, C.3
Beltran-Valero De, B.D.4
Sabatelli, P.5
Merlini, L.6
-
15
-
-
33847354287
-
Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects
-
S. Wopereis, S. Grunewald, K.M. Huijben, E. Morava, R. Mollicone, B.G. van Engelen, and et al. Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects Clin. Chem. 53 2 2007 180 187
-
(2007)
Clin. Chem.
, vol.53
, Issue.2
, pp. 180-187
-
-
Wopereis, S.1
Grunewald, S.2
Huijben, K.M.3
Morava, E.4
Mollicone, R.5
Van Engelen, B.G.6
-
16
-
-
34247607757
-
Secondary alteration of the transferrin isoelectric focusing pattern in a case of bacterial meningitis
-
E. Quintana, S. Gala, A. Garcia-Cazorla, R. Montero, C. Munoz-Almagro, M.A. Vilaseca, and et al. Secondary alteration of the transferrin isoelectric focusing pattern in a case of bacterial meningitis J. Inherit. Metab. Dis. 30 2 2007 267
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, Issue.2
, pp. 267
-
-
Quintana, E.1
Gala, S.2
Garcia-Cazorla, A.3
Montero, R.4
Munoz-Almagro, C.5
Vilaseca, M.A.6
-
17
-
-
0035887188
-
Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation
-
P. Mills, K. Mills, P. Clayton, A. Johnson, D. Whitehouse, and B. Winchester Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation Biochem. J. 359 Pt 2 2001 249 254
-
(2001)
Biochem. J.
, vol.359
, pp. 249-254
-
-
Mills, P.1
Mills, K.2
Clayton, P.3
Johnson, A.4
Whitehouse, D.5
Winchester, B.6
-
18
-
-
80052868501
-
2D DIGE analysis of maternal plasma for potential biomarkers of Down Syndrome
-
W.E. Heywood, T.E. Madgett, D. Wang, A. Wallington, J. Hogg, K. Mills, and et al. 2D DIGE analysis of maternal plasma for potential biomarkers of Down Syndrome Proteome. Sci. 9 2011 56
-
(2011)
Proteome. Sci.
, vol.9
, pp. 56
-
-
Heywood, W.E.1
Madgett, T.E.2
Wang, D.3
Wallington, A.4
Hogg, J.5
Mills, K.6
-
19
-
-
0034775822
-
Identification of alpha(1)-antitrypsin variants in plasma with the use of proteomic technology
-
K. Mills, P.B. Mills, P.T. Clayton, A.W. Johnson, D.B. Whitehouse, and B.G. Winchester Identification of alpha(1)-antitrypsin variants in plasma with the use of proteomic technology Clin. Chem. 47 11 2001 2012 2022
-
(2001)
Clin. Chem.
, vol.47
, Issue.11
, pp. 2012-2022
-
-
Mills, K.1
Mills, P.B.2
Clayton, P.T.3
Johnson, A.W.4
Whitehouse, D.B.5
Winchester, B.G.6
-
20
-
-
0029927505
-
Mass spectrometric sequencing of proteins silver-stained polyacrylamide gels
-
A. Shevchenko, M. Wilm, O. Vorm, and M. Mann Mass spectrometric sequencing of proteins silver-stained polyacrylamide gels Anal. Chem. 68 5 1996 850 858
-
(1996)
Anal. Chem.
, vol.68
, Issue.5
, pp. 850-858
-
-
Shevchenko, A.1
Wilm, M.2
Vorm, O.3
Mann, M.4
-
21
-
-
84860439029
-
Identification of new biomarkers for Down's syndrome in maternal plasma
-
W. Heywood, K. Mills, D. Wang, J. Hogg, T.E. Madgett, N.D. Avent, and et al. Identification of new biomarkers for Down's syndrome in maternal plasma J. Proteome 75 9 2012 2621 2628
-
(2012)
J. Proteome
, vol.75
, Issue.9
, pp. 2621-2628
-
-
Heywood, W.1
Mills, K.2
Wang, D.3
Hogg, J.4
Madgett, T.E.5
Avent, N.D.6
-
22
-
-
84875964804
-
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation
-
B.G. Ng, K.J. Buckingham, K. Raymond, M. Kircher, E.H. Turner, M. He, and et al. Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation Am. J. Hum. Genet. 92 4 2013 632 636
-
(2013)
Am. J. Hum. Genet.
, vol.92
, Issue.4
, pp. 632-636
-
-
Ng, B.G.1
Buckingham, K.J.2
Raymond, K.3
Kircher, M.4
Turner, E.H.5
He, M.6
-
23
-
-
66149128447
-
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
-
V. Hucthagowder, E. Morava, U. Kornak, D.J. Lefeber, B. Fischer, A. Dimopoulou, and et al. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival Hum. Mol. Genet. 18 12 2009 2149 2165
-
(2009)
Hum. Mol. Genet.
, vol.18
, Issue.12
, pp. 2149-2165
-
-
Hucthagowder, V.1
Morava, E.2
Kornak, U.3
Lefeber, D.J.4
Fischer, B.5
Dimopoulou, A.6
-
24
-
-
84892685784
-
MAN1B1 deficiency: An unexpected CDG-II
-
D. Rymen, R. Peanne, M.B. Millon, V. Race, L. Sturiale, D. Garozzo, and et al. MAN1B1 deficiency: an unexpected CDG-II PLoS Genet. 9 12 2013 e1003989
-
(2013)
PLoS Genet.
, vol.9
, Issue.12
-
-
Rymen, D.1
Peanne, R.2
Millon, M.B.3
Race, V.4
Sturiale, L.5
Garozzo, D.6
-
25
-
-
68749120840
-
Mutational and functional analysis of large in a novel CHO glycosylation mutant
-
J.T. Aguilan, S. Sundaram, E. Nieves, and P. Stanley Mutational and functional analysis of large in a novel CHO glycosylation mutant Glycobiology 19 9 2009 971 986
-
(2009)
Glycobiology
, vol.19
, Issue.9
, pp. 971-986
-
-
Aguilan, J.T.1
Sundaram, S.2
Nieves, E.3
Stanley, P.4
-
26
-
-
20144366896
-
Mouse large can modify complex N- and mucin O-glycans on alpha-dystroglycan to induce laminin binding
-
S.K. Patnaik, and P. Stanley Mouse large can modify complex N- and mucin O-glycans on alpha-dystroglycan to induce laminin binding J. Biol. Chem. 280 21 2005 20851 20859
-
(2005)
J. Biol. Chem.
, vol.280
, Issue.21
, pp. 20851-20859
-
-
Patnaik, S.K.1
Stanley, P.2
-
27
-
-
84882923644
-
SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function
-
T. Yoshida-Moriguchi, T. Willer, M.E. Anderson, D. Venzke, T. Whyte, F. Muntoni, and et al. SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function Science 341 6148 2013 896 899
-
(2013)
Science
, vol.341
, Issue.6148
, pp. 896-899
-
-
Yoshida-Moriguchi, T.1
Willer, T.2
Anderson, M.E.3
Venzke, D.4
Whyte, T.5
Muntoni, F.6
-
28
-
-
0038732507
-
Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I
-
N. Callewaert, E. Schollen, A. Vanhecke, J. Jaeken, G. Matthijs, and R. Contreras Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I Glycobiology 13 5 2003 367 375
-
(2003)
Glycobiology
, vol.13
, Issue.5
, pp. 367-375
-
-
Callewaert, N.1
Schollen, E.2
Vanhecke, A.3
Jaeken, J.4
Matthijs, G.5
Contreras, R.6
-
29
-
-
0038042509
-
Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx
-
P.B. Mills, K. Mills, N. Mian, B.G. Winchester, and P.T. Clayton Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx J. Inherit. Metab. Dis. 26 2-3 2003 119 134
-
(2003)
J. Inherit. Metab. Dis.
, vol.26
, Issue.2-3
, pp. 119-134
-
-
Mills, P.B.1
Mills, K.2
Mian, N.3
Winchester, B.G.4
Clayton, P.T.5
-
30
-
-
84879981323
-
A new method for the rapid diagnosis of protein N-linked congenital disorders of glycosylation
-
W.E. Heywood, P. Mills, S. Grunewald, V. Worthington, J. Jaeken, G. Carreno, and et al. A new method for the rapid diagnosis of protein N-linked congenital disorders of glycosylation J. Proteome. Res. 12 7 2013 3471 3479
-
(2013)
J. Proteome. Res.
, vol.12
, Issue.7
, pp. 3471-3479
-
-
Heywood, W.E.1
Mills, P.2
Grunewald, S.3
Worthington, V.4
Jaeken, J.5
Carreno, G.6
-
31
-
-
67049158217
-
Identification of protein O-GlcNAcylation sites using electron transfer dissociation mass spectrometry on native peptides
-
R.J. Chalkley, A. Thalhammer, R. Schoepfer, and A.L. Burlingame Identification of protein O-GlcNAcylation sites using electron transfer dissociation mass spectrometry on native peptides Proc. Natl. Acad. Sci. U S A 106 22 2009 8894 8899
-
(2009)
Proc. Natl. Acad. Sci. U S A
, vol.106
, Issue.22
, pp. 8894-8899
-
-
Chalkley, R.J.1
Thalhammer, A.2
Schoepfer, R.3
Burlingame, A.L.4
-
32
-
-
84904111497
-
Congenital disorders of glycosylation: New defects and still counting
-
K. Scott, T. Gadomski, T. Kozicz, and E. Morava Congenital disorders of glycosylation: new defects and still counting J. Inherit. Metab. Dis. 37 4 2014 609 617
-
(2014)
J. Inherit. Metab. Dis.
, vol.37
, Issue.4
, pp. 609-617
-
-
Scott, K.1
Gadomski, T.2
Kozicz, T.3
Morava, E.4
|