-
1
-
-
84904111497
-
Congenital disorders of glycosylation: new defects and still counting
-
Scott, K., Gadomski, T., Kozicz, T. and Morava, E. (2014) Congenital disorders of glycosylation: new defects and still counting. J. Inherit. Metab. Dis., 37, 609-617.
-
(2014)
J. Inherit. Metab. Dis.
, vol.37
, pp. 609-617
-
-
Scott, K.1
Gadomski, T.2
Kozicz, T.3
Morava, E.4
-
2
-
-
84874901762
-
Understanding human glycosylation disorders: biochemistry leads the charge
-
Freeze, H.H. (2013) Understanding human glycosylation disorders: biochemistry leads the charge. J. Biol. Chem., 288, 6936-6945.
-
(2013)
J. Biol. Chem.
, vol.288
, pp. 6936-6945
-
-
Freeze, H.H.1
-
4
-
-
84876835227
-
Congenital disorders of glycosylation
-
Jaeken, J. (2013) Congenital disorders of glycosylation. Handb. Clin. Neurol., 113, 1737-1743.
-
(2013)
Handb. Clin. Neurol.
, vol.113
, pp. 1737-1743
-
-
Jaeken, J.1
-
5
-
-
34250903593
-
Congenital disorders of glycosylation: CDG-I, CDG-II, and beyond
-
Freeze, H.H. (2007) Congenital disorders of glycosylation: CDG-I, CDG-II, and beyond. Curr. Mol. Med., 7, 389-396.
-
(2007)
Curr. Mol. Med.
, vol.7
, pp. 389-396
-
-
Freeze, H.H.1
-
6
-
-
35548972537
-
Congenital disorders of glycosylation: a rapidly expanding disease family
-
Jaeken, J. and Matthijs, G. (2007) Congenital disorders of glycosylation: a rapidly expanding disease family. Annu. Rev. Genomics Hum. Genet., 8, 261-278.
-
(2007)
Annu. Rev. Genomics Hum. Genet.
, vol.8
, pp. 261-278
-
-
Jaeken, J.1
Matthijs, G.2
-
7
-
-
84893734160
-
Solving glycosylation disorders: fundamental approaches reveal complicated pathways
-
Freeze, H.H., Chong, J.X., Bamshad, M.J. and Ng, B.G. (2014) Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am. J. Hum. Genet., 94, 161-175.
-
(2014)
Am. J. Hum. Genet.
, vol.94
, pp. 161-175
-
-
Freeze, H.H.1
Chong, J.X.2
Bamshad, M.J.3
Ng, B.G.4
-
8
-
-
0036208301
-
Congenital disorder of glycosylation IId (CDG-IId)-a new entity: clinical presentation with Dandy- Walker malformation and myopathy
-
Peters, V., Penzien, J.M., Reiter, G., Körner, C., Hackler, R., Assmann, B., Fang, J., Schaefer, J.R., Hoffmann, G.F. and Heidemann, P.H. (2002) Congenital disorder of glycosylation IId (CDG-IId)-a new entity: clinical presentation with Dandy- Walker malformation and myopathy. Neuropediatrics, 33, 27-32.
-
(2002)
Neuropediatrics
, vol.33
, pp. 27-32
-
-
Peters, V.1
Penzien, J.M.2
Reiter, G.3
Körner, C.4
Hackler, R.5
Assmann, B.6
Fang, J.7
Schaefer, J.R.8
Hoffmann, G.F.9
Heidemann, P.H.10
-
9
-
-
0027930443
-
Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II
-
Jaeken, J., Schachter, H., Carchon, H., De Cock, P., Coddeville, B. and Spik, G. (1994) Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II. Arch. Dis. Child., 71, 123-127.
-
(1994)
Arch. Dis. Child.
, vol.71
, pp. 123-127
-
-
Jaeken, J.1
Schachter, H.2
Carchon, H.3
De Cock, P.4
Coddeville, B.5
Spik, G.6
-
10
-
-
15944399952
-
Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter
-
Martinez-Duncker, I., Dupré, T., Piller, V., Piller, F., Candelier, J.-J., Trichet, C., Tchernia, G., Oriol, R. and Mollicone, R. (2005) Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter. Blood, 105, 2671-2676.
-
(2005)
Blood
, vol.105
, pp. 2671-2676
-
-
Martinez-Duncker, I.1
Dupré, T.2
Piller, V.3
Piller, F.4
Candelier, J.-J.5
Trichet, C.6
Tchernia, G.7
Oriol, R.8
Mollicone, R.9
-
11
-
-
2442696341
-
Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder
-
Wu, X., Steet, R.A., Bohorov, O., Bakker, J., Newell, J., Krieger, M., Spaapen, L., Kornfeld, S. and Freeze, H.H. (2004) Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Nat. Med., 10, 518-523.
-
(2004)
Nat. Med.
, vol.10
, pp. 518-523
-
-
Wu, X.1
Steet, R.A.2
Bohorov, O.3
Bakker, J.4
Newell, J.5
Krieger, M.6
Spaapen, L.7
Kornfeld, S.8
Freeze, H.H.9
-
12
-
-
33644853797
-
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II
-
Foulquier, F., Vasile, E., Schollen, E., Callewaert, N., Raemaekers, T., Quelhas, D., Jaeken, J., Mills, P., Winchester, B., Krieger, M. et al. (2006) Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. Proc. Natl. Acad. Sci. USA, 103, 3764-3769.
-
(2006)
Proc. Natl. Acad. Sci. USA
, vol.103
, pp. 3764-3769
-
-
Foulquier, F.1
Vasile, E.2
Schollen, E.3
Callewaert, N.4
Raemaekers, T.5
Quelhas, D.6
Jaeken, J.7
Mills, P.8
Winchester, B.9
Krieger, M.10
-
13
-
-
34447330452
-
COG8 deficiency causes newcongenital disorder of glycosylation type IIh
-
Kranz, C., Ng, B.G., Sun, L., Sharma, V., Eklund, E.A., Miura, Y., Ungar, D., Lupashin, V., Winkel, R.D., Cipollo, J.F. et al. (2007) COG8 deficiency causes newcongenital disorder of glycosylation type IIh. Hum. Mol. Genet., 16, 731-741.
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 731-741
-
-
Kranz, C.1
Ng, B.G.2
Sun, L.3
Sharma, V.4
Eklund, E.A.5
Miura, Y.6
Ungar, D.7
Lupashin, V.8
Winkel, R.D.9
Cipollo, J.F.10
-
14
-
-
70350690698
-
Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation
-
Paesold-Burda, P., Maag, C., Troxler, H., Foulquier, F., Kleinert, P., Schnabel, S., Baumgartner, M. and Hennet, T. (2009) Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation. Hum. Mol. Genet., 18, 4350-4356.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 4350-4356
-
-
Paesold-Burda, P.1
Maag, C.2
Troxler, H.3
Foulquier, F.4
Kleinert, P.5
Schnabel, S.6
Baumgartner, M.7
Hennet, T.8
-
15
-
-
68749117665
-
Golgi function and dysfunction in the first COG4-deficient CDG type II patient
-
Reynders, E., Foulquier, F., Leão Teles, E., Quelhas, D., Morelle, W., Rabouille, C., Annaert, W. and Matthijs, G. (2009) Golgi function and dysfunction in the first COG4-deficient CDG type II patient. Hum. Mol. Genet., 18, 3244-3256.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 3244-3256
-
-
Reynders, E.1
Foulquier, F.2
Leão Teles, E.3
Quelhas, D.4
Morelle, W.5
Rabouille, C.6
Annaert, W.7
Matthijs, G.8
-
16
-
-
37549056201
-
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
-
Kornak, U., Reynders, E., Dimopoulou, A., van Reeuwijk, J., Fischer, B., Rajab, A., Budde, B., Nürnberg, P., Foulquier, F., Lefeber, D. et al. (2008) Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat. Genet., 40, 32-34.
-
(2008)
Nat. Genet.
, vol.40
, pp. 32-34
-
-
Kornak, U.1
Reynders, E.2
Dimopoulou, A.3
van Reeuwijk, J.4
Fischer, B.5
Rajab, A.6
Budde, B.7
Nürnberg, P.8
Foulquier, F.9
Lefeber, D.10
-
17
-
-
84863982840
-
TMEM165 deficiency causes a congenital disorder of glycosylation
-
Foulquier, F., Amyere, M., Jaeken, J., Zeevaert, R., Schollen, E., Race, V., Bammens, R., Morelle,W., Rosnoblet, C., Legrand, D. et al. (2012) TMEM165 deficiency causes a congenital disorder of glycosylation. Am. J. Hum. Genet., 91, 15-26.
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 15-26
-
-
Foulquier, F.1
Amyere, M.2
Jaeken, J.3
Zeevaert, R.4
Schollen, E.5
Race, V.6
Bammens, R.7
Morelle, W.8
Rosnoblet, C.9
Legrand, D.10
-
18
-
-
84952308445
-
High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation
-
Van Scherpenzeel, M., Steenbergen, G., Morava, E.,Wevers, R. A. and Lefeber, D.J. High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation. Transl. Res., doi: 10.1016/j.trsl.2015.07.005.
-
Transl. Res.
-
-
Van Scherpenzeel, M.1
Steenbergen, G.2
Morava, E.3
Wevers, R.A.4
Lefeber, D.J.5
-
19
-
-
84880271052
-
Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II
-
Rosnoblet, C., Legrand, D., Demaegd, D., Hacine-Gherbi, H., de Bettignies, G., Bammens, R., Borrego, C., Duvet, S., Morsomme, P., Matthijs, G. et al. (2013) Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II. Hum. Mol. Genet., 22, 2914-2928.
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 2914-2928
-
-
Rosnoblet, C.1
Legrand, D.2
Demaegd, D.3
Hacine-Gherbi, H.4
de Bettignies, G.5
Bammens, R.6
Borrego, C.7
Duvet, S.8
Morsomme, P.9
Matthijs, G.10
-
20
-
-
84876846506
-
Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells
-
Demaegd, D., Foulquier, F., Colinet, A.-S., Gremillon, L., Legrand, D., Mariot, P., Peiter, E., Van Schaftingen, E., Matthijs, G. and Morsomme, P. (2013) Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells. Proc. Natl. Acad. Sci. USA, 110, 6859-6864.
-
(2013)
Proc. Natl. Acad. Sci. USA
, vol.110
, pp. 6859-6864
-
-
Demaegd, D.1
Foulquier, F.2
Colinet, A.-S.3
Gremillon, L.4
Legrand, D.5
Mariot, P.6
Peiter, E.7
Van Schaftingen, E.8
Matthijs, G.9
Morsomme, P.10
-
21
-
-
0024375204
-
2+ ATPase family
-
2+ ATPase family. Cell, 58, 133-145.
-
(1989)
Cell
, vol.58
, pp. 133-145
-
-
Rudolph, H.K.1
Antebi, A.2
Fink, G.R.3
Buckley, C.M.4
Dorman, T.E.5
LeVitre, J.6
Davidow, L.S.7
Mao, J.I.8
Moir, D.T.9
-
22
-
-
0031664331
-
The medial-Golgi ion pump Pmr1 supplies the yeast secretory pathway with Ca2+ and Mn2+ required for glycosylation, sorting, and endoplasmic reticulum-associated protein degradation
-
Dürr, G., Strayle, J., Plemper, R., Elbs, S., Klee, S.K., Catty, P., Wolf, D.H. and Rudolph, H.K. (1998) The medial-Golgi ion pump Pmr1 supplies the yeast secretory pathway with Ca2+ and Mn2+ required for glycosylation, sorting, and endoplasmic reticulum-associated protein degradation. Mol. Biol. Cell, 9, 1149-1162.
-
(1998)
Mol. Biol. Cell
, vol.9
, pp. 1149-1162
-
-
Dürr, G.1
Strayle, J.2
Plemper, R.3
Elbs, S.4
Klee, S.K.5
Catty, P.6
Wolf, D.H.7
Rudolph, H.K.8
-
23
-
-
0027097849
-
(2+)-ATPase homologue, PMR1, is required for normal Golgi function and localizes in a novel Golgi-like distribution
-
(2+)-ATPase homologue, PMR1, is required for normal Golgi function and localizes in a novel Golgi-like distribution. Mol. Biol. Cell, 3, 633-654.
-
(1992)
Mol. Biol. Cell
, vol.3
, pp. 633-654
-
-
Antebi, A.1
Fink, G.R.2
-
24
-
-
84876434668
-
Regulation of cation balance in Saccharomyces cerevisiae
-
Cyert, M.S. and Philpott, C.C. (2013) Regulation of cation balance in Saccharomyces cerevisiae. Genetics, 193, 677-713.
-
(2013)
Genetics
, vol.193
, pp. 677-713
-
-
Cyert, M.S.1
Philpott, C.C.2
-
25
-
-
33644883005
-
A global view of pleiotropy and phenotypically derived gene function in yeast
-
2005.0001
-
Dudley, A.M., Janse, D.M., Tanay, A., Shamir, R. and Church, G. M. (2005) A global view of pleiotropy and phenotypically derived gene function in yeast. Mol. Syst. Biol., 1, 2005.0001.
-
(2005)
Mol. Syst. Biol.
, vol.1
-
-
Dudley, A.M.1
Janse, D.M.2
Tanay, A.3
Shamir, R.4
Church, G.M.5
-
26
-
-
32944479485
-
MNN5 encodes an iron-regulated alpha-1,2-mannosyltransferase important for protein glycosylation, cell wall integrity, morphogenesis, and virulence in Candida albicans
-
Bai, C., Xu, X.-L., Chan, F.-Y., Lee, R.T.H. and Wang, Y. (2006) MNN5 encodes an iron-regulated alpha-1,2-mannosyltransferase important for protein glycosylation, cell wall integrity, morphogenesis, and virulence in Candida albicans. Eukaryot. Cell, 5, 238-247.
-
(2006)
Eukaryot. Cell
, vol.5
, pp. 238-247
-
-
Bai, C.1
Xu, X.-L.2
Chan, F.-Y.3
Lee, R.T.H.4
Wang, Y.5
-
27
-
-
84875497828
-
Golgi phosphoprotein 4 (GPP130) is a sensitive and selective cellular target of manganese exposure
-
Masuda, M., Braun-sommargren, M., Crooks, D. and Smith, D. R. (2013) Golgi phosphoprotein 4 (GPP130) is a sensitive and selective cellular target of manganese exposure. Synapse NY, 67, 205-215.
-
(2013)
Synapse NY
, vol.67
, pp. 205-215
-
-
Masuda, M.1
Braun-sommargren, M.2
Crooks, D.3
Smith, D.R.4
-
28
-
-
77950687021
-
Manganese-induced trafficking and turnover of the cis- Golgi glycoprotein GPP130
-
Mukhopadhyay, S., Bachert, C., Smith, D.R. and Linstedt, A.D. (2010) Manganese-induced trafficking and turnover of the cis- Golgi glycoprotein GPP130. Mol. Biol. Cell, 21, 1282-1292.
-
(2010)
Mol. Biol. Cell
, vol.21
, pp. 1282-1292
-
-
Mukhopadhyay, S.1
Bachert, C.2
Smith, D.R.3
Linstedt, A.D.4
-
29
-
-
0032493440
-
Activity of the yeast MNN1 alpha- 1,3-mannosyltransferase requires a motif conserved in many other families of glycosyltransferases
-
Ca,W. and Munro, S. (1998) Activity of the yeast MNN1 alpha- 1,3-mannosyltransferase requires a motif conserved in many other families of glycosyltransferases. Proc. Natl. Acad. Sci. USA, 95, 7945-7950.
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 7945-7950
-
-
Ca, W.1
Munro, S.2
-
30
-
-
0032500541
-
Identification of the MNN2 and MNN5 mannosyltransferases required for forming and extending the mannose branches of the outer chain mannans of Saccharomyces cerevisiae
-
Rayner, J.C. and Munro, S. (1998) Identification of the MNN2 and MNN5 mannosyltransferases required for forming and extending the mannose branches of the outer chain mannans of Saccharomyces cerevisiae. J. Biol. Chem., 273, 26836-26843.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 26836-26843
-
-
Rayner, J.C.1
Munro, S.2
-
31
-
-
84927144353
-
Manganese redistribution by calcium-stimulated vesicle trafficking bypasses the need for P-type ATPase function
-
García-Rodríguez, N., Manzano-López, J., Muñoz-Bravo, M., Fernández-García, E., Muñiz, M. and Wellinger, R.E. (2015) Manganese redistribution by calcium-stimulated vesicle trafficking bypasses the need for P-type ATPase function. J. Biol. Chem., 290, 9335-9347.
-
(2015)
J. Biol. Chem.
, vol.290
, pp. 9335-9347
-
-
García-Rodríguez, N.1
Manzano-López, J.2
Muñoz-Bravo, M.3
Fernández-García, E.4
Muñiz, M.5
Wellinger, R.E.6
-
32
-
-
84951834497
-
SLC39A8 deficiency: a disorder of manganese transport and glycosylation
-
Park, J.H., Hogrebe, M., Grüneberg, M., DuChesne, I., von der Heiden, A.L., Reunert, J., Schlingmann, K.P., Boycott, K.M., Beaulieu, C.L., Mhanni, A.A. et al. (2015) SLC39A8 deficiency: a disorder of manganese transport and glycosylation. Am. J. Hum. Genet., 97, 894-903.
-
(2015)
Am. J. Hum. Genet.
, vol.97
, pp. 894-903
-
-
Park, J.H.1
Hogrebe, M.2
Grüneberg, M.3
DuChesne, I.4
von der Heiden, A.L.5
Reunert, J.6
Schlingmann, K.P.7
Boycott, K.M.8
Beaulieu, C.L.9
Mhanni, A.A.10
-
33
-
-
0025313449
-
Isolation, characterization, and properties of Saccharomyces cerevisiae mnn mutants with nonconditional protein glycosylation defects
-
Academic Press, USA
-
Ballou, C.E.(1990) Isolation, characterization, and properties of Saccharomyces cerevisiae mnn mutants with nonconditional protein glycosylation defects. Gene Expression Technology (Methods Enzymology). Academic Press, USA, Vol. 185, pp. 440-470.
-
(1990)
Gene Expression Technology (Methods Enzymology)
, vol.185
, pp. 440-470
-
-
Ballou, C.E.1
-
34
-
-
34447097453
-
Analysis of protein glycosylation by mass spectrometry
-
Morelle,W. and Michalski, J.-C. (2007) Analysis of protein glycosylation by mass spectrometry. Nat. Protoc., 2, 1585-1602.
-
(2007)
Nat. Protoc.
, vol.2
, pp. 1585-1602
-
-
Morelle, W.1
Michalski, J.-C.2
-
35
-
-
84863205849
-
NIH Image to ImageJ: 25 years of image analysis
-
Schneider, C.A., Rasband, W.S. and Eliceiri, K.W. (2012) NIH Image to ImageJ: 25 years of image analysis. Nat. Methods, 9, 671-675.
-
(2012)
Nat. Methods
, vol.9
, pp. 671-675
-
-
Schneider, C.A.1
Rasband, W.S.2
Eliceiri, K.W.3
|