Congenital disorders of glycosylation: Glycosylation defects in man and biological models for their study

Biological Chemistry

Volumn 382, Issue 2, 2001, Pages 161-177

  Marquardt, T ^a   Freeze, H ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

CDG; Glycosylation; HEMPAS; LAD II

Indexed keywords

GLYCAN DERIVATIVE; GLYCOCONJUGATE; GLYCOPROTEIN;

ANIMAL CELL; BIOLOGICAL MODEL; BIOSYNTHESIS; CONGENITAL DISORDER; CONTROLLED STUDY; GENETIC ANALYSIS; GLYCOPROTEIN SYNTHESIS; GLYCOSYLATION; HEREDITARY HEMOLYTIC ANEMIA; HUMAN; HUMAN CELL; INHERITANCE; LEUKOCYTE ADHESION DEFICIENCY; MOLECULAR BIOLOGY; MOLECULAR GENETICS; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

ANIMALS; CARBOHYDRATE METABOLISM, INBORN ERRORS; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; GLYCOSYLATION; HUMANS; MAMMALS; MOLECULAR BIOLOGY; PROTEINS; SACCHAROMYCES CEREVISIAE; TRANSFERRIN;

ANIMALIA;

EID: 0035089105     PISSN: 14316730     EISSN: None     Source Type: Journal    
DOI: 10.1515/BC.2001.024     Document Type: Review

References (164)

1. Oral ingestion of mannose elevates blood mannose levels: A first step toward potential therapy for carbohydrate-deficient glycoprotein syndrome type I
2. Identification and characterization of large galactosyltransferase gene families: Galactosyltransferases for all functions
3. Full-field electroretinograms in patients with the carbohydrate-deficient glycoprotein syndrome
4. Congenital dyserythropoietic anaemia, type I and II : Aberrant pattern of erythrocyte membrane proteins in CDA II, as revealed by two-dimensional polyacrylamide gel electrophoresis
5. Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome
6. Red cell membrane protein abnormalities in congenital dyserythropoietic anaemia, type II (HEMPAS)
7. Some aspects of the structure, immunochemistry, and genetic control of yeast mannans
8. The Saccharomyces cerevisiae DPM1 gene encoding dolichol-phosphate-mannose synthase is able to complement a glycosylation-defective mammalian cell line
9. Progression of hepatic neoplasms is severely retarded in mice lacking the bisecting N-acetylglucosamine on N-glycans: Evidence for a glycoprotein factor that facilitates hepatic tumor progression
10. Purification and characterization of a novel broad-specificity (alpha 1-2, alpha 1-3 and alpha 1-6) mannosidase from rat liver
11. Subcellular distribution in rat liver of a novel broad-specificity (alpha 1-2, alpha 1-3 and alpha 1-6) mannosidase active on oligomannose glycans
12. Anomalies ultrastructures des érythryoblastes et des érythrocytes dans six cas de dyseérythropoièse congenitale
13. Glycosyltransferase activity of Fringe modulates Notch-Delta interactions
14. The dolichol pathway of N-linked glycosylation
15. A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide
16. Complex asparagine-linked oligosaccharides in Mgat1-null embryos
17. Expression of three Caenorhabditis elegans N-acetylglucosaminyltransferase I genes during development
18. Alpha-mannosidase-II deficiency results in dyserythropoesis and unveils an alternate pathway in oligosaccharide biosynthesis
19. Genetic re-modeling of protein glycosylation in vivo induces autoimmune disease
20. Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome
21. Carbohydrate-deficient glycoprotein syndrome: Normal glycosylation in the fetus
22. Hereditary erythroblastic multinuclearity with a positive acid serum test: A type of congenital dyserythropoietic anemia
23. A mouse lymphoma cell line resistant to the leukoagglutinating lectin from Phaseolus vulgaris is deficient in UDP-GlcNAc: Alpha-D-mannoside beta 1,6 N-acetylglucosaminyltransferase
24. A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency
25. Phosphomannose isomerase deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy
26. Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose
27. A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency
28. Translocation across Golgi vesicle membranes: A CHO glycosylation mutant deficient in CMP-sialic acid transport
29. Mechanism of galactosylation in the Golgi apparatus. A Chinese hamster ovary cell mutant deficient in translocation of UDP-galactose across Golgi vesicle membranes
30. Phenotypes of patients with "simple" Mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics
31. Mutants of the CMP-sialic acid transporter causing the Lec2 phenotype
32. Core 2 oligosaccharide biosynthesis distinguishes between selectin ligands essential for leukocyte homing and inflammation
33. Recurrent severe infections caused by a novel leukocyte adhesion deficiency
34. Leukocyte adhesion deficiency type II: Long-term follow-up
35. Dictyostelium discoideum glycoproteins: Using a model system for organismic glycobiology
36. Disorders in protein glycosylation and potential therapy: Tip of an iceberg?
37. Human glycosylation disorders and sugar supplement therapy
38. Ramban-Hasharon syndrom of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype
39. HEMPAS. Hereditary erythroblastic multi-nuclearity with positive acidified serum lysis test
40. Structure of fetal lactosaminoglycan. The carbohydrate moiety of band 3 isolated from human umbilical cord erythrocytes
41. Defect in glycosylation of erythrocyte membrane proteins in congenital dyserythropoietic anaemia type II (HEMPAS)
42. Primary defect of congenital dyserythropoietic anemia type II: Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyltransferase II
43. Defective glycosylation of erythrocyte membrane glycoconjugates in a variant of congenital dyserythropoietic anemia type II: Association of low level of membrane-bound form of glactosyltransferase
44. Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding α-mannosidase II
45. Beta-1,4-galactosylation of N-glycans is a complex process
46. Localization of congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search
47. Suppression of tumor growth and metastasis in Mgat5-deficient mice
48. β-trace protein in human cerebrospinal fluid: A diagnostic marker for N-glycosylation defects in brain
49. Clinical and biochemical characteristics of congenital disorder of glycosylation type lc, the first recognized endoplasmic reticulum defect in N-glycan synthesis
50. Multiple serum protein abnormalities in carbohydrate-deficient glycoprotein syndrome: Pathognomonic finding of two-dimensional electrophoresis?
51. Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of erythroblasts
52. Kongenitale dyserythropoetische Anämien. Monatsschr
53. Immune regulation by the ST6Gal sialytransferase
54. The remodeling of glycoconjugates in mice
55. Three proteins involved in Caenorhabditis elegans vulval invagination are similar to components of a glycosylation pathway
56. Diagnostik und Nosologie der Glykanose CDG ('Carbohydrate-deficient glycoprotein syndrome')
57. Drei neue biochemische Marker bei Glykanose CDG
58. Mice lacking Dad1, the defender against apoptotic death-1, express abnormal N-linked glyco-proteins and undergo increased embryonic apoptosis
59. P-selectin glycoprotein ligand-1 and E-selectin ligand-1 are differentially modified by fucosyl-transferases Fuc-TIV and Fuc-TVII in mouse neutrophils
60. Yeast mutants deficient in protein glycosylation
61. Ricin-resistant mutants of baby-hamster-kidney cells deficient in alpha-mannosidase-II-catalyzed processing of asparagine-linked oligosaccharides
62. Congenital dyserythropoietic anemia type II: Molecular basis and clinical aspects
63. Genetic heterogeneity of congenital dyserythropoietic anemia type II
64. A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-lc
65. Multi-allelic origin of congenital disorder of glycosylation (CDG)-lc
66. Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type le
67. Mice lacking N-acetylglucosaminyltransferase I activity die at mid-gestation, revealing an essential role for complex or hybrid N-linked carbohydrates
68. Essential role for complex N-glycans in forming an organized layer of bronchial epithelium
69. Complex N-glycans in Mgat1 null preimplantation embryos arise from maternal Mgat1 RNA
70. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG deficiency, increased serum arylsulphatase A and increased CSF protein: A new syndrome?
71. Sialic acid-deficient serum and cerebrospinal fluid transferrin in an newly recognized genetic syndrome
72. A newly recognized inherited neurological disease with carbohydrate deficient secretory glycoproteins
73. The carbohydrate-deficient glycoprotein syndromes: An overview
74. Carbohydrate-deficient glycoprotein syndrome type II
75. Carbohydrate deficient glycoprotein syndrome type II: A deficiency in Golgi localised N-acetyl-glucosaminyltransferase II
76. Phosphomannose isomerase deficiency: A carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation
77. Structural and functional consequences of an N-glycosylation mutation (HEMPAS) affecting human erythrocyte membrane glycoproteins
78. Leukocyte Adhesion Deficiency Type II is a generalized defect of de novo GDP-fucose biosynthesis. Endothelial cell fucosylation is not required for neutrophil rolling an human nonlymphoid endothelium
79. DAD1, the defender against apoptotic cell death, is a subunit of the mammalian oligosaccharyltransferase
80. The yeast SEC53 gene encodes phosphomannomutase
81. Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation le (CDG-le)
82. Carbohydrate-deficient glycoprotein syndrome type 1: Correction of the glycosylation defect by deprivation of glucose or supplementation of mannose
83. Carbohydrate-deficient glycoprotein syndrome type V: Deficiency of dolichol-P-Glc:Man9Glc-NAc2-PP-dolichyl glucosyltransferase
84. Carbohydrate deficient glycoprotein syndrome type IV: Deficiency of dolichyl-P-Man:Man(5)Glc-NAc(2)-PP-dolichyl mannosyltransferase
85. Disialotransferrin developmental deficiency syndrome
86. Targeted mutation in beta1,4-galactosyltransferase leads to pituitary insufficiency and neonatal lethality
87. A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the Golgi
88. Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3
89. DPM2 regulates biosynthesis of dolichol phosphatemannose in mammalian cells: Correct subcellular localization and stabilization of DPM1, and binding of dolichol phosphate
90. The alpha(1,3)fucosyltransferase Fuc-TVII controls leukocyte trafficking through an essential role in L-, E-, and P-selectin ligand biosynthesis
91. A recessive deletion in the GlcNAc-1-phosphotransferase gene results in peri-implantation embryonic lethality
92. Mannose therapy in carbohydrate-deficient glyoprotein syndrome type 1 - First results of the German multicenter study
93. A new patient with leukocyte adhesion deficiency (LAD) II syndrome, a generalized defect in fucose metabolism
94. Correction of leukocyte adhesion deficiency type II with oral fucose
95. Will the transgenic mouse serve as a Rosetta Stone to glycoconjugate function?
96. Recent advances in gene mutagenesis by site-directed recombination
97. PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13
98. Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A
99. Incomplete glycosylation of erythrocyte membrane proteins in congenital dyserythropoietic anaemia type II (CDA II)
100. Continous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I
101. Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency
102. Complex asparagine-linked oligosaccharides are required for morphogenic events during post-implantation development
103. Molecular cloning and expression of cDNAs encoding human alpha-mannosidase II and a previously unrecognized alpha-mannosidase IIx isozyme
104. Fringe is a glycosyltransferase that modifies Notch
105. Essential roles of carbohydrate signals in development, immune response and tissue functions, as revealed by gene targeting
106. Carbohydrate-deficient glycoprotein syndrome type lb. Phosphomannose isomerase deficiency and mannose therapy
107. Identification of 23 complementation groups required for post-translational events in the yeast secretory pathway
108. A partial deficiency of dehydrodolichol reduction is a cause of carbohydrate-deficient glycoprotein syndrome type I
109. The carbohydrate deficient glycoprotein syndrome in three Japanese children
110. Molecular cloning and expression of GDP-D-mannose-4,6-dehydratase, a key enzyme for fucose metabolism defective in Lec13 cells
111. Genetic defect in N acetylglucosaminyltransferase I gene of a ricin-resistant baby hamster kidney mutant
112. Cloning and sequencing of the yeast gene for dolichol phosphate mannose synthase, an essential protein
113. Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts
114. Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG
115. Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG
116. Early manifestations of the carbohydrate-deficient glycoprotein syndrome
117. Lec32 is a new mutation in Chinese hamster ovary cells that essentially abrogates CMP-N-acetylneuraminic acid synthetase activity
118. Isolation characterization and inactivation of the mouse Mgat3 gene: The bisecting N-acetylglucosamine in asparagine-linked oligosaccharides appears dispensable for viability and reproduction
119. The ST3Gal-I sialytransferase controls CD8+ T lymphocyte homeostasis by modulating O-glycan biosynthesis
120. Purification, cDNA cloning and heterologous expression of human phosphomannose isomerase
121. Glycosylation defect in Lec1 Chinese hamster ovary mutant is due to a point mutation in N-acetylglucosaminyltransferase I gene
122. Synthesis of dolichol in a polyprenol reductase mutant is restored by elevation of cis-prenyl transferase activity
123. Nonglucosylated oligosaccharides are transferred to protein in MI8-5 Chinese hamster ovary cells
124. A new variant of the carbohydrate deficient glycoproteins syndrome
125. A novel glycosylation phenotype expressed by Lec23, a Chinese hamster ovary mutant deficient in alpha-glucosidase I
126. Isolation of the ALG6 locus of Saccharomyces cerevisiae required for glucosylation in the N-linked glycosylation pathway
127. Mouse lymphoma cell lines resistant to pea lectin are defective in fucose metabolism
128. A lectin-resistant mouse lymphoma cell line is deficient in glucosidase II, a glycoprotein-processing enzyme
129. Two Chinese hamster ovary glycosylation mutants affected in the conversion of GDP-mannose to GDP-fucose
130. Lec9 CHO glycosylation mutants are defective in the synthesis of dolichol
131. Mutants in dolichol synthesis: Conversion of polyprenol to dolichol appears to be a rate-limiting step in dolichol synthesis
132. Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with congenital disorders of glycosylation (CDG)
133. Decreased glycosylation of band 3 and band 4.5 glycoproteins of erythrocyte membrane in congenital dyserythropoietic anaemia type II
134. Yeast secretory mutants: Isolation and characterization
135. Nephritis in alpha-mannosidase-II deficient mice
136. Proteoglycans and pattern formation: Sugar biochemistry meets developmental genetics
137. Function and structure of Drosophila glycans
138. PMI40, an intron-containing gene required for early steps in yeast mannosylation
139. Lectin-resistant CHO cells: Selection of new mutant phenotypes
140. Glycosylation mutants of animal cells
141. Glycosyltransferase mutants: Key to new insights in glycobiology
142. Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome
143. Carbohydrate-deficient glycoprotein (CDG) syndrome - A new variant, type III
144. Renal cysts in the carbohydrate-deficient glycoprotein syndrome. Pediatr
145. Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development
146. A homologue of Saccharomyces cerevisiae Dpm1p is not sufficient for synthesis of dolichol-phosphate-mannose in mammalian cells
147. Expression of Thy-1 glycoprotein on lectin-resistant lymphoma cell lines
148. A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome
149. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I
150. Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome
151. Diagnosis of Carbohydrate-deficient Glycoprotein Syndrome by matrix-assisted laser desorption time-of-flight mass spectrometry
152. A functional link between N-linked glycosylation and apoptosis in Chinese hamster ovary cells
153. Investigating a model of human CDG type II reveals a heterogenic disease with cell type-specific defects and frequent perinatal lethality
154. Expression cloning of a novel suppressor of the Lec15 and Lec35 glycosylation mutations of Chinese hamster ovary cells
155. Expression cloning of a novel suppressor of the Lec15 and Lec35 glycosylation mutations of Chinese hamster ovary cells
156. A point mutation causes mistargeting of Golgi GlcNAc-TV in the Lec4A Chinese hamster ovary glycosylation mutant
157. Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation lc
158. A Congenital Disorder of Glycosylation (CDG-Ic) impairs heparan sulfate proteoglycan accumulation in small intestine epithelial cells and contributes to protein-losing enteropathy
159. Yeast carboxypeptidase Y requires glycosylation for efficient intracellular transport, but not for vacuolar sorting, in vivo stability, or activity
160. Dyserythropoiesis and congenital dyserythrpoietic anaemias
161. Sugar chains of serum transferrin from patients with carbohydrate deficient glycoprotein syndrome
162. Electrospray ionization-mass spectrometric analysis of serum transferrin isoforms in patients with carbohydrate-deficient glycoproteins syndrome
163. New evidence for an extra-hepatic role of N-acetylglucosaminyltransferase III in the progression of diethylnitrosamine-induced liver tumors in mice