-
2
-
-
3442881366
-
Congenital disorders of glycosylation: A booming chapter of pediatrics
-
Jaeken J, Carchon H. Congenital disorders of glycosylation: a booming chapter of pediatrics. Curr Opin Pediatr 2004; 16: 434-9.
-
(2004)
Curr Opin Pediatr
, vol.16
, pp. 434-439
-
-
Jaeken, J.1
Carchon, H.2
-
3
-
-
0037605951
-
Congenital disorders of glycosylation: Review of their molecular bases, clinical presentations and specific therapies
-
Marquardt T, Denecke J. Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. Eur J Pediatr 2003; 162: 359-79.
-
(2003)
Eur J Pediatr
, vol.162
, pp. 359-379
-
-
Marquardt, T.1
Denecke, J.2
-
4
-
-
25844442417
-
Altered glycan structure: The molecular basis of congenital disorders of glycosylation
-
Freeze HH, Aebi M. Altered glycan structure: the molecular basis of congenital disorders of glycosylation. Curr Opin Struct Biol 2005; 15: 490-8.
-
(2005)
Curr Opin Struct Biol
, vol.15
, pp. 490-498
-
-
Freeze, H.H.1
Aebi, M.2
-
5
-
-
0021891884
-
Assembly of asparagine-linked oligosaccharides
-
Kornfeld R, Kornfeld S. Assembly of asparagine-linked oligosaccharides. Annu Rev Biochem 1985; 54: 631-64.
-
(1985)
Annu Rev Biochem
, vol.54
, pp. 631-664
-
-
Kornfeld, R.1
Kornfeld, S.2
-
7
-
-
3943059566
-
Roles of N-linked glycans in the endoplasmic reticulum
-
Helenius A, Aebi M. Roles of N-linked glycans in the endoplasmic reticulum. Annu Rev Biochem 2004; 73: 1019-1049.
-
(2004)
Annu Rev Biochem
, vol.73
, pp. 1019-1049
-
-
Helenius, A.1
Aebi, M.2
-
8
-
-
33645450506
-
Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: A review
-
Wopereis S, Lefeber DJ, Morava E, Wevers RA. Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review. Clin Chem 2006; 52: 574-600.
-
(2006)
Clin Chem
, vol.52
, pp. 574-600
-
-
Wopereis, S.1
Lefeber, D.J.2
Morava, E.3
Wevers, R.A.4
-
9
-
-
0000249979
-
Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH, and GH levels, partial TBG deficiency, increased arylsulfatase A and increase CSF protein: A new syndrome?
-
Jaeken J, Vanderschueren-Lodeweyckx M, Casaer P, et al. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH, and GH levels, partial TBG deficiency, increased arylsulfatase A and increase CSF protein: a new syndrome? Pediatr Res 1980; 14: 179.
-
(1980)
Pediatr Res
, vol.14
, pp. 179
-
-
Jaeken, J.1
Vanderschueren-Lodeweyckx, M.2
Casaer, P.3
-
10
-
-
0027930443
-
Carbohydrate deficient glycoprotein syndrome type II: A deficiency in Golgi localised N-acetylglucosaminyltransferase II
-
Jaeken J, Schachter H, Carchon H, De Cock P, Coddeville B, Spick G. Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetylglucosaminyltransferase II. Arch Dis Child 1994; 71: 123-7.
-
(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
Spick, G.6
-
11
-
-
0033939884
-
A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency
-
De Praeter CM, Gerwig GJ, Bause E, et al. A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency. Am J Hum Genet 2000; 66: 1744-56.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1744-1756
-
-
De Praeter, C.M.1
Gerwig, G.J.2
Bause, E.3
-
12
-
-
0036208301
-
Congenital disorder of glycosylation IId (CDG-IId) - A new entity: Clinical presentation with Dandy-Walker malformation and myopathy
-
Peters V, Penzien JM, Reiter G, et al Congenital disorder of glycosylation IId (CDG-IId) - a new entity: clinical presentation with Dandy-Walker malformation and myopathy. Neuropediatr 2002; 3: 27-32.
-
(2002)
Neuropediatr
, vol.3
, pp. 27-32
-
-
Peters, V.1
Penzien, J.M.2
Reiter, G.3
-
13
-
-
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, el 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: 2671-6.
-
(2005)
Blood
, vol.105
, pp. 2671-2676
-
-
Martinez-Duncker, I.1
Dupré, T.2
Piller, V.3
-
14
-
-
0035036072
-
Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency
-
Lubke T, Marquardt T, Etzioni A, Hartmann E, von Figura K, Kömer C. Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. Nat Genet 2001; 28: 73-6.
-
(2001)
Nat Genet
, vol.28
, pp. 73-76
-
-
Lubke, T.1
Marquardt, T.2
Etzioni, A.3
Hartmann, E.4
von Figura, K.5
Kömer, C.6
-
15
-
-
2442696341
-
Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder
-
Wu X, Steet RA, Bohorov O, et al. Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Nat Med 2004; 10: 518-23.
-
(2004)
Nat Med
, vol.10
, pp. 518-523
-
-
Wu, X.1
Steet, R.A.2
Bohorov, O.3
-
16
-
-
0025098286
-
A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: Galactosyl-transferase I deficiency in fibroblasts from a patient with a progeroid syndrome
-
Quentin E, Gladen A, Roden L, Kresse H. A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyl-transferase I deficiency in fibroblasts from a patient with a progeroid syndrome. Proc Nat Acad Sci USA 1990; 87: 1342-6.
-
(1990)
Proc Nat Acad Sci USA
, vol.87
, pp. 1342-1346
-
-
Quentin, E.1
Gladen, A.2
Roden, L.3
Kresse, H.4
-
17
-
-
3042846793
-
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type
-
Faiyaz-Ul-Haque M, Zaidi SHE, Al-Ali M, et al. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. Am J Med Genet 2004; 128: 39-45.
-
(2004)
Am J Med Genet
, vol.128
, pp. 39-45
-
-
Faiyaz-Ul-Haque, M.1
Zaidi, S.H.E.2
Al-Ali, M.3
-
18
-
-
0034681139
-
The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate
-
McCormick C, Duncan G, Goutsos KT, Tufaro F. The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. Proc Nat Acad Sci USA 2000; 97: 668-73.
-
(2000)
Proc Nat Acad Sci USA
, vol.97
, pp. 668-673
-
-
McCormick, C.1
Duncan, G.2
Goutsos, K.T.3
Tufaro, F.4
-
19
-
-
0038185363
-
Mutations in the O-mannosyltransferase gene POMT1 give rise to severe neuronal migration disorder Walker-Warburg syndrome
-
Beltran-Valero de Bernabe D, Currier S, Steinbrecher A, et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 2002; 71: 1033-43.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1033-1043
-
-
de Bernabe, B.-V.D.1
Currier, S.2
Steinbrecher, A.3
-
20
-
-
18044400450
-
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
-
2001
-
Yoshida A, Kobayashi K, Manya H, et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell 2001; 1: 717-24. 2001.
-
(2001)
Dev Cell
, vol.1
, pp. 717-724
-
-
Yoshida, A.1
Kobayashi, K.2
Manya, H.3
-
21
-
-
2642546399
-
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, causes familial tumoral calcinosis
-
Topaz O, Shurman DL, Bergman R, et al. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, causes familial tumoral calcinosis. Nat Genet 2004; 36: 579-81.
-
(2004)
Nat Genet
, vol.36
, pp. 579-581
-
-
Topaz, O.1
Shurman, D.L.2
Bergman, R.3
-
22
-
-
22844449795
-
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutation
-
Vogt G, Chapgier A, Yang K, et al. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutation. Nat Genet 2005; 37: 692-700.
-
(2005)
Nat Genet
, vol.37
, pp. 692-700
-
-
Vogt, G.1
Chapgier, A.2
Yang, K.3
-
23
-
-
14544280429
-
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase
-
Simpson MA, Cross H, Proukakis C, et al. Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. Nat Genet 2004; 36: 1225-9.
-
(2004)
Nat Genet
, vol.36
, pp. 1225-1229
-
-
Simpson, M.A.1
Cross, H.2
Proukakis, C.3
-
24
-
-
0021686784
-
Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome
-
Jaeken J, van Eijk HG, van der Heul C, Corbeel L, Eeckels R, Eggermont E. Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. Clin Chim Acta 1984; 144: 245-7.
-
(1984)
Clin Chim Acta
, vol.144
, pp. 245-247
-
-
Jaeken, J.1
van Eijk, H.G.2
van der Heul, C.3
Corbeel, L.4
Eeckels, R.5
Eggermont, E.6
-
25
-
-
1642533464
-
Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin
-
Carchon H, Chevigné R, Falmagne JB, Jaeken J. Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin. Clin Chem 2004; 50: 101-11.
-
(2004)
Clin Chem
, vol.50
, pp. 101-111
-
-
Carchon, H.1
Chevigné, R.2
Falmagne, J.B.3
Jaeken, J.4
-
26
-
-
15944379269
-
Diagnostic moléculaire des anomalies congénitales de la glycosylation
-
Vuillaumier-Barrot S. Diagnostic moléculaire des anomalies congénitales de la glycosylation. Ann Biol Clin 2005; 63: 135-43.
-
(2005)
Ann Biol Clin
, vol.63
, pp. 135-143
-
-
Vuillaumier-Barrot, S.1
-
28
-
-
0029984537
-
Mannose corrects altered N-glycosylation in Carbohydrate- deficient Glycoprotein Syndrome fibroblasts
-
Panneerselvam K, Freeze HH. Mannose corrects altered N-glycosylation in Carbohydrate- deficient Glycoprotein Syndrome fibroblasts. J Clin Invest 1996; 97: 1478-87.
-
(1996)
J Clin Invest
, vol.97
, pp. 1478-1487
-
-
Panneerselvam, K.1
Freeze, H.H.2
-
29
-
-
0038042509
-
Mass spectrometric analysis of glycans elucidating the pathogenesis of CDG type IIx
-
Mills PB, Mills K, Mian N, Winchester BB, Clayton, PT. Mass spectrometric analysis of glycans elucidating the pathogenesis of CDG type IIx. J Inherit Metab Dis 2003; 26: 119-34.
-
(2003)
J Inherit Metab Dis
, vol.26
, pp. 119-134
-
-
Mills, P.B.1
Mills, K.2
Mian, N.3
Winchester, B.B.4
Clayton, P.T.5
-
30
-
-
10744225031
-
Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis
-
Butler M, Quelhas D, Critchley AJ, et al. Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis. Glycobiology 2003; 13: 601-22.
-
(2003)
Glycobiology
, vol.13
, pp. 601-622
-
-
Butler, M.1
Quelhas, D.2
Critchley, A.J.3
-
31
-
-
28444496685
-
Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups
-
Wopereis S, Morava E, Grünewald S, et al. Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups. Glycobiology 2005; 15: 1312-5.
-
(2005)
Glycobiology
, vol.15
, pp. 1312-1315
-
-
Wopereis, S.1
Morava, E.2
Grünewald, S.3
-
32
-
-
0029585865
-
Phosphomannomutase deficiency is a cause of carbohydrate deficient glycoprotein syndrome type I
-
Van Schaftingen E, Jaeken J. Phosphomannomutase deficiency is a cause of carbohydrate deficient glycoprotein syndrome type I. FEBS Lett. 1995; 377: 318-20.
-
(1995)
FEBS Lett.
, vol.377
, pp. 318-320
-
-
Van Schaftingen, E.1
Jaeken, J.2
-
33
-
-
0031005847
-
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate deficient glycoprotein I syndrome (Jaeken syndrome)
-
Erratum in: Nat Genet 1997; 16: 316
-
Matthijs G, Schollen E, Pardon E, et al. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate deficient glycoprotein I syndrome (Jaeken syndrome) Nat Genet 1997; 16: 88-92. Erratum in: Nat Genet 1997; 16: 316
-
(1997)
Nat Genet
, vol.16
, pp. 88-92
-
-
Matthijs, G.1
Schollen, E.2
Pardon, E.3
-
34
-
-
0035125320
-
High residual activity of PMM2 in patients' fibroblasts: Possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency)
-
Grünewald S, Schollen E, Van Schaftingen E, Jaeken J, Matthijs G. High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency). Am J Hum Genet 2001; 68: 347-54.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 347-354
-
-
Grünewald, S.1
Schollen, E.2
Van Schaftingen, E.3
Jaeken, J.4
Matthijs, G.5
-
35
-
-
17444429987
-
Unusal presentation of congenital disorders of glycosylation type Ia: Congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops like aspect due to marked peripheral oedema
-
Noelle V, Knuepfer M, Pulzer F, et al. Unusal presentation of congenital disorders of glycosylation type Ia: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops like aspect due to marked peripheral oedema. Eur J Pediatr 2005; 164: 223-6.
-
(2005)
Eur J Pediatr
, vol.164
, pp. 223-226
-
-
Noelle, V.1
Knuepfer, M.2
Pulzer, F.3
-
36
-
-
18344392101
-
Congenital disorders of glycosylation type Ia: A clinicopathological report of a newborn infant with cerebellar pathology
-
Aronica E, van Kempen AAMW, van der Heide M, et al. Congenital disorders of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology. Acta Neuropathol 2005; 109: 433-42.
-
(2005)
Acta Neuropathol
, vol.109
, pp. 433-442
-
-
Aronica, E.1
van Kempen, A.A.M.W.2
van der Heide, M.3
-
37
-
-
12344276674
-
Underdiagnosis of mild congenital disorders of glycosylation type Ia
-
Giurgea I, Michel A, Le Merrer M, Seta N, de Lonlay P. Underdiagnosis of mild congenital disorders of glycosylation type Ia. Pediatr Neurol 2005; 32: 121-3.
-
(2005)
Pediatr Neurol
, vol.32
, pp. 121-123
-
-
Giurgea, I.1
Michel, A.2
Le Merrer, M.3
Seta, N.4
de Lonlay, P.5
-
38
-
-
8744259950
-
Increased recurrence risk of congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion
-
Schollen E, Kjaergaard S, Martinsson T, et al. Increased recurrence risk of congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion. J Med Genet 2004; 41: 877-80.
-
(2004)
J Med Genet
, vol.41
, pp. 877-880
-
-
Schollen, E.1
Kjaergaard, S.2
Martinsson, T.3
-
40
-
-
0038497420
-
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis
-
Grünewald S, Imbach T, Huijben K, et al. Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis. Ann Neurol 2000; 47: 776-81.
-
(2000)
Ann Neurol
, vol.47
, pp. 776-781
-
-
Grünewald, S.1
Imbach, T.2
Huijben, K.3
-
41
-
-
0038353645
-
Congenital disorder of glycosylation Ic in patients of Indian origin
-
Newell JW, Seo N-S, Enns GM, McCraken M, Mantovani JF, Freeze HH. Congenital disorder of glycosylation Ic in patients of Indian origin. Mol Genet Metab 2003; 79: 221-8.
-
(2003)
Mol Genet Metab
, vol.79
, pp. 221-228
-
-
Newell, J.W.1
Seo, N.-S.2
Enns, G.M.3
McCraken, M.4
Mantovani, J.F.5
Freeze, H.H.6
-
42
-
-
23344439462
-
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient
-
Sun L, Eklund EA, Van Hove JLK, Freeze HH, Thomas JA. Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient. Am J Med Genet A 2005; 137: 22-6.
-
(2005)
Am J Med Genet A
, vol.137
, pp. 22-26
-
-
Sun, L.1
Eklund, E.A.2
Van Hove, J.L.K.3
Freeze, H.H.4
Thomas, J.A.5
-
43
-
-
3442894625
-
Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, Ib and Ic
-
Damen G, de Klerk H, Huijmans J, den Hollander J, Sinaasappel M. Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, Ib and Ic. J Pediatr Gastroenterol Nutr 2004; 38: 282-7.
-
(2004)
J Pediatr Gastroenterol Nutr
, vol.38
, pp. 282-287
-
-
Damen, G.1
de Klerk, H.2
Huijmans, J.3
den Hollander, J.4
Sinaasappel, M.5
-
44
-
-
3142758519
-
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)
-
Schollen E, Frank CG, Keldermans L, et al. Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). J Med Genet 2004; 41: 550-6.
-
(2004)
J Med Genet
, vol.41
, pp. 550-556
-
-
Schollen, E.1
Frank, C.G.2
Keldermans, L.3
-
45
-
-
18844446449
-
CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3 (q21.3-qter)
-
Schollen S, Grünewald S, Keldermans L, Albrecht B, Körner C, Matthijs G. CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3 (q21.3-qter). Eur J Med Genet 2005; 48: 153-8.
-
(2005)
Eur J Med Genet
, vol.48
, pp. 153-158
-
-
Schollen, S.1
Grünewald, S.2
Keldermans, L.3
Albrecht, B.4
Körner, C.5
Matthijs, G.6
-
46
-
-
23044496263
-
Congenital disorder of glycosylation Id (CDG-Id) presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia
-
Sun L, Eklund EA, Chung WK, Wang C, Cohen J, Freeze HH. Congenital disorder of glycosylation Id (CDG-Id) presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. J Clin Endocrinol Metab 2005; 90: 4371-5.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 4371-4375
-
-
Sun, L.1
Eklund, E.A.2
Chung, W.K.3
Wang, C.4
Cohen, J.5
Freeze, H.H.6
-
47
-
-
27244441789
-
Congenital disorders of glycosylation type Ia and Ib
-
Kjaergaard S. Congenital disorders of glycosylation type Ia and Ib. Dan Med Bull 2004; 51: 350-63.
-
(2004)
Dan Med Bull
, vol.51
, pp. 350-363
-
-
Kjaergaard, S.1
-
48
-
-
13544271859
-
Contemporary strategies in the diagnosis and management of neonatal hyperinsulinaemic hypoglycaemia
-
Lindley KJ, Dunne MJ. Contemporary strategies in the diagnosis and management of neonatal hyperinsulinaemic hypoglycaemia. Early Hum Dev 2005; 81: 61-72.
-
(2005)
Early Hum Dev
, vol.81
, pp. 61-72
-
-
Lindley, K.J.1
Dunne, M.J.2
-
49
-
-
27944444124
-
ALG9 mannosyltransferase is involved in two different steps of lipid-linked oligosaccharide biosynthesis
-
Frank CG, Aebi M. ALG9 mannosyltransferase is involved in two different steps of lipid-linked oligosaccharide biosynthesis. Glycobiology 2005; 15: 1156-63.
-
(2005)
Glycobiology
, vol.15
, pp. 1156-1163
-
-
Frank, C.G.1
Aebi, M.2
-
50
-
-
22044448890
-
CDG-IL: An infant with a novel mutation in the ALG9 gene and additional phenotypic features
-
Weinstein M, Schollen E, Matthijs G, et al. CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. Am J Med Genet A 2005; 136: 194-7.
-
(2005)
Am J Med Genet A
, vol.136
, pp. 194-197
-
-
Weinstein, M.1
Schollen, E.2
Matthijs, G.3
-
51
-
-
25144464491
-
Clinical and biochemical presentation of siblings with COG7 deficiency, a lethal multiple O- and N-glycosylation disorder
-
Spaapen LJM, Bakker, JA, Van Der Meer SB, et al. Clinical and biochemical presentation of siblings with COG7 deficiency, a lethal multiple O- and N-glycosylation disorder. J Inherit Metab Dis 2005; 28: 707-14.
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 707-714
-
-
Spaapen, L.J.M.1
Bakker, J.A.2
Van Der Meer, S.B.3
-
52
-
-
0037193464
-
Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function
-
Ungar D, Oka T, Brittle EE, et al. Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function. J Cell Biol 2002; 157: 405-15.
-
(2002)
J Cell Biol
, vol.157
, pp. 405-415
-
-
Ungar, D.1
Oka, T.2
Brittle, E.E.3
-
53
-
-
23044502309
-
Cog 1 p plays a central role in the organization of the yeast conserved oligomeric Golgi complex
-
Fotso P, Koryakina Y, Pavliv O, Tsiomenko A, Lupashin V. Cog 1 p plays a central role in the organization of the yeast conserved oligomeric Golgi complex. J Biol Chem 2005; 280: 27613-23.
-
(2005)
J Biol Chem
, vol.280
, pp. 27613-27623
-
-
Fotso, P.1
Koryakina, Y.2
Pavliv, O.3
Tsiomenko, A.4
Lupashin, V.5
-
54
-
-
25444466999
-
Genetic analysis of the subunit organization and function of the COG complex: Studies of Cog5 and Cog7 deficient mammalian cells
-
Oka T, Vasile E, Penman M, et al. Genetic analysis of the subunit organization and function of the COG complex: Studies of Cog5 and Cog7 deficient mammalian cells. J Biol Chem 2005; 280: 32736-45.
-
(2005)
J Biol Chem
, vol.280
, pp. 32736-32745
-
-
Oka, T.1
Vasile, E.2
Penman, M.3
-
55
-
-
2642540241
-
The binary interacting network of the conserved oligomeric Golgi tethering complex
-
Loh E, Hong W. The binary interacting network of the conserved oligomeric Golgi tethering complex. J Biol Chem 2004; 279: 24640-8.
-
(2004)
J Biol Chem
, vol.279
, pp. 24640-24648
-
-
Loh, E.1
Hong, W.2
-
56
-
-
14744272136
-
Cog3p depletion blocks vesicle mediated Golgi retrograde trafficking in HeLa cells
-
Zolov Sn, Lupashin VV. Cog3p depletion blocks vesicle mediated Golgi retrograde trafficking in HeLa cells. J Cell Biol 2005; 168: 747-59.
-
(2005)
J Cell Biol
, vol.168
, pp. 747-759
-
-
Zolov, Sn.1
Lupashin, V.V.2
-
57
-
-
2342467375
-
The COG and COPI complexes interact to control the abundance of GEARs, a subset of Golgi integral membrane proteins
-
Oka T, Ungar D, Hughson FM, Krieger M. The COG and COPI complexes interact to control the abundance of GEARs, a subset of Golgi integral membrane proteins. Mol Biol Cell 2004; 15: 2423-35.
-
(2004)
Mol Biol Cell
, vol.15
, pp. 2423-2435
-
-
Oka, T.1
Ungar, D.2
Hughson, F.M.3
Krieger, M.4
-
58
-
-
0022455528
-
Three types of low density lipoprotein receptor-deficient mutant have pleiotropic defects in the synthesis of N-linked, O-linked and lipid-linked carbohydrate chains
-
Kingsley DM, Kozarsky KF, Segal M, Krieger M. Three types of low density lipoprotein receptor-deficient mutant have pleiotropic defects in the synthesis of N-linked, O-linked and lipid-linked carbohydrate chains. J Cell Biol 1986; 102: 1576-85.
-
(1986)
J Cell Biol
, vol.102
, pp. 1576-1585
-
-
Kingsley, D.M.1
Kozarsky, K.F.2
Segal, M.3
Krieger, M.4
-
59
-
-
17144402597
-
Defective protein glycosylation in patients with cutis laxa syndrome
-
Morava E, Wopereis S, Coucke P, et al. Defective protein glycosylation in patients with cutis laxa syndrome. Eur J Hum Genet 2005; 13: 414-21.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 414-421
-
-
Morava, E.1
Wopereis, S.2
Coucke, P.3
-
60
-
-
20444442445
-
A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: The biochemical characteristics
-
Wopereis S, Morava E, Grünewald S, et al. A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics. Biochim Biophys Acta 2005; 1741: 156-64.
-
(2005)
Biochim Biophys Acta
, vol.1741
, pp. 156-164
-
-
Wopereis, S.1
Morava, E.2
Grünewald, S.3
-
61
-
-
13244265807
-
Genome-wide analysis of the unfolded protein response in fibroblasts from congenital disorders of glycosylation type-I patients
-
Lecca RM, Wagner U, Patrignani A, Berger EG, Hennet T. Genome-wide analysis of the unfolded protein response in fibroblasts from congenital disorders of glycosylation type-I patients. FASEB J 2005; 19: 240-2.
-
(2005)
FASEB J
, vol.19
, pp. 240-242
-
-
Lecca, R.M.1
Wagner, U.2
Patrignani, A.3
Berger, E.G.4
Hennet, T.5
-
62
-
-
0035714138
-
Modeling of human congenital disorder of glycosylation type IIa in the mouse: Conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis
-
Wang Y, Tan J, Sutton-Smith M, et al. Modeling of human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis. Glycobiology 2001; 11: 1051-70.
-
(2001)
Glycobiology
, vol.11
, pp. 1051-1070
-
-
Wang, Y.1
Tan, J.2
Sutton-Smith, M.3
-
63
-
-
0036200383
-
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId
-
Hanßke B, Thiel C, Lübke T et al. Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. J Clin Invest. 2002; 109: 725-33.
-
(2002)
J Clin Invest.
, vol.109
, pp. 725-733
-
-
Hanßke, B.1
Thiel, C.2
Lübke, T.3
-
64
-
-
0031567823
-
Targeted mutation in beta 1,4-galactosyltransferase leads to pituitary insufficiency and neonatal lethality
-
Lu Q, Hasty P, Shur BD. Targeted mutation in beta 1,4-galactosyltransferase leads to pituitary insufficiency and neonatal lethality. Dev Biol 1997; 181: 257-67.
-
(1997)
Dev Biol
, vol.181
, pp. 257-267
-
-
Lu, Q.1
Hasty, P.2
Shur, B.D.3
-
65
-
-
0030977266
-
Growth retardation and early death of β-1,4-galactosyltransferase knockout mice with augmented proliferation and abnormal differentiation of epithelial cells
-
Asano M, Furukawa K, Kido M, et al. Growth retardation and early death of β-1,4-galactosyltransferase knockout mice with augmented proliferation and abnormal differentiation of epithelial cells. EMBO J 1997; 16: 1850-7.
-
(1997)
EMBO J
, vol.16
, pp. 1850-1857
-
-
Asano, M.1
Furukawa, K.2
Kido, M.3
-
66
-
-
0034663225
-
Disruption of gastrulation and heparan sulfate biosynthesis in EXT1-deficient mice
-
Lin X, Wei G, Shu Z, et al. Disruption of gastrulation and heparan sulfate biosynthesis in EXT1-deficient mice. Dev Biol 2000; 224: 299-311.
-
(2000)
Dev Biol
, vol.224
, pp. 299-311
-
-
Lin, X.1
Wei, G.2
Shu, Z.3
-
67
-
-
33750709935
-
Molecular bases of congenital disorders of glycosylation (CDG)
-
S4.3-01
-
von Figura K, Thiel C, Lübke T, et al. Molecular bases of congenital disorders of glycosylation (CDG). Eur J Biochem 2003; (supplt) 1:S4.3-01.
-
(2003)
Eur J Biochem
, vol.1
, Issue.SUPPL.
-
-
von Figura, K.1
Thiel, C.2
Lübke, T.3
-
68
-
-
24144478495
-
Tissue distribution of the murine phosphomannomutases Pmm1 and Pmm2 during brain development
-
Cromphout K, Keldermans L, Snellinx A, et al. Tissue distribution of the murine phosphomannomutases Pmm1 and Pmm2 during brain development. Eur J Neurosci 2005; 22: 991-6.
-
(2005)
Eur J Neurosci
, vol.22
, pp. 991-996
-
-
Cromphout, K.1
Keldermans, L.2
Snellinx, A.3
-
69
-
-
27944497414
-
Hydrophobic Man-1-P derivates correct abnormal glycosylation in type I congenital disorder of glycosylation fibroblasts
-
Eklund E, Merbouh N, Ichikawa M, et al. Hydrophobic Man-1-P derivates correct abnormal glycosylation in type I congenital disorder of glycosylation fibroblasts. Glycobiology 2005; 15: 1084-93.
-
(2005)
Glycobiology
, vol.15
, pp. 1084-1093
-
-
Eklund, E.1
Merbouh, N.2
Ichikawa, M.3
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