MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

Journal of Clinical Investigation

Volumn 108, Issue 11, 2001, Pages 1687-1695

  Schenk, B ^a   Imbach, T ^a   Frank, C G ^a   Grubenmann, C E ^a   Raymond, G V ^a   Hurvitz, H ^a   Raas Rotschild, A ^a   Luder, A S ^a   Jaeken, J ^a   Berger, E G ^a   Matthijs, G ^a   Hennet, T ^a   Aebi, M ^a  

^a ETH ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; OLIGOSACCHARIDE; PROTEIN; PROTEIN LEC35; TRANSFERRIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CARBOHYDRATE SYNTHESIS; CASE REPORT; CLINICAL FEATURE; FEMALE; FIBROBLAST; GENE; GENE ISOLATION; GENE MUTATION; HUMAN; INBORN ERROR OF METABOLISM; INFANT; MALE; MPDU1 GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; SCHOOL CHILD; SYNDROME DELINEATION;

AMINO ACID SEQUENCE; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CELLS, CULTURED; CHROMOSOME MAPPING; FEMALE; FIBROBLASTS; GLYCOSYLATION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OLIGOSACCHARIDES; REPRESSOR PROTEINS;

EID: 0035213149     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI200113419     Document Type: Article

References (52)

1. Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity
2. Defects of N-glycan synthesis
3. Carbohydrate-deficient glycoprotein syndrome
4. Congenital disorders of glycosylation: Genetic model systems lead the way
5. Biological roles of oligosaccharides: All of the theories are correct
6. Intracellular functions of N-linked glycans
7. Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG
8. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type 1
9. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
10. Carbohydrate-deficient glycoprotein syndrome type Ib Phosphomannose isomerase deficiency and mannose therapy
11. Phosphomannose isomerase deficiency: A carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation
12. A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide
13. A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic
14. Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
15. Carbohydrate-deficient glycoprotein syndrome type V: Deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase
16. Carbohydrate deficient glycoprotein syndrome type IV: Deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase
17. Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie
18. Dolichol phosphate mannose synthase (DPMI) mutations define congenital disorder of glycosylation Ie (CDG-Ie)
19. Carbohydrate deficient glycoprotein syndrome type II: A deficiency in Golgi localised N-acetyl-glucosaminyltransferase II
20. A novel disorder caused by defective biosynthesis of N-linked oligosacchatides due to glucosidase I deficiency
21. A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the Golgi
22. The dolichol pathway of N-linked glycosylation
23. Topography of glycosylation in the rough endoplasmic reticulum and Golgi apparatus
24. Oligosaccharyltransferase: A complex multisubunit enzyme of the endoplasmic reticulum
25. Biochemistry, molecular biology, and genetics of the oligosaccharyltransferase
26. The oligosaccharyltransferase complex from yeast
27. Glucose residues as key determinants in the biosynthesis and quality control of glycoproteins with N-linked oligosaccharides
28. Structure of the lipid-linked oligosaccharides that accumulate in class E Thy-1-negative mutant lymphomas
29. Requirement of the Lec35 gene for all known classes of monosaccharide-P-dolichol-dependent glycosyltransferase reactions in mammals
30. Immortalisation or B lymphocytes by Epstein-Barr virus
31. Microheterogeneity of human serum transferrin: A biological phenomenon studied by isoelectric focusing in immobilized pH gradients
32. STT3, a highly conserved protein required for yeast oligosacchatyl transferase activity in vivo
33. Conditions for quantitation of dolichyl phosphate, dolichol, ubiquinone and cholesterol by HPLC
34. Advanced mammalian gene transfer: High titre retroviral vectors with multiple drug selection markers and a complementary helper-free packaging cell line
35. Generation of high titer, helper-free retrovirus by transient transfection
36. Sugar chains of serum transferrin from patients with carbohydrate deficient glycoprotein syndrome. Evidence of asparagine-N-linked oligosaccharide transfer deficiency
37. Ordered assembly of the asymmetrically branched lipid-linked oligosaccharide in the endoplasmic reticulum is ensured by the substrate specificity of the individual glycosyltransferases
38. Processing enzymes involved in the deglucosylation of N-linked oligosaccharides of glycoproteins: Glucosidases I and II and endomannosidase
39. Processing glycosidases of Saccharomyces cerevisiae
40. Role of N-oligosaccharide endoplasmic reticulum processing reactions in glycoprotein folding and degradation
41. Yeast secretory mutants that block the formation of active cell surface enzymes
42. Control of carbohydrate processing: Increased beta-1,6 branching in N-linked carbohydrates of Lec9 CHO mutants appears to arise from a defect in oligosaccharide-dolichol biosynthesis
43. Distribution, metabolism and function of dolichol and polyprenols
44. A block at Man5GlcNAc2-pyrophosphoryldolichol in intact but not disrupted castanospermine and swainsonine-resistant Chinese hamster ovary cells
45. Defective mannosylation of glycosylphosphatidylinositol in Lec35 Chinese hamster ovary cells
46. Transmembrane movement of a water-soluble analogue of mannosylphosphoryldolichol is mediated by an endoplasmic reticulum protein
47. Transbilayer movement of Glc-P-dolichol and its function as a glucosyl donor: Protein-mediated transport of a water-soluble analog into sealed ER vesicles from pig brain
48. The biological role of dolichol
49. The influence of dolichol, dolichol esters, and dolichyl phosphate on phopsholipid polymorphism and fluidity in model membranes
50. Mannolipid donor specificity of glycosylphosphatidylinositol mannosyltransferase-I (GPIMT-I) determined with an assay system utilizing mutant CHO-K1 cells
51. Pleiotropic resistance to glycoprotein processing inhibitors in Chinese hamster ovary cells. The role of a novel mutation in the asparagine-linked glycosylation pathway
52. Truncated N-glycans affect protein folding in the ER of CHO-derived mutant cell lines without preventing calnexin binding