Correction of glycogen storage disease type II by enzyme replacement with a recombinant human acid maltase produced by over-expression in a CHO-DHFR(neg) cell line

Biochemical and Biophysical Research Communications

Volumn 276, Issue 3, 2000, Pages 917-923

  Martiniuk, Frank ^a   Chen, Agnes ^a   Donnabella, Vincent ^a   Arvanitopoulos, Eleni ^a   Slonim, Alfred E ^b   Raben, Nina ^c   Plotz, Paul ^c   Rom, William N ^a  

^a NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^b NORTH SHORE UNIVERSITY HOSPITAL   (United States)

^c NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

Author keywords

Acid maltase; Glycogen storage disease type II; Methotrexate; Over expression CHO cell line; Pompe's disease; Recombinant human acid maltase (rhGAA)

Indexed keywords

ALPHA GLUCOSIDASE; COMPLEMENTARY DNA; GLUCAN 1,4 ALPHA GLUCOSIDASE; GLYCOGEN; LYSOSOME ENZYME; MESSENGER RNA; METHOTREXATE; RECOMBINANT ENZYME;

ANIMAL CELL; ANIMAL MODEL; ARTICLE; CHO CELL; CONCENTRATION RESPONSE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME REPLACEMENT; GENE OVEREXPRESSION; GLYCOGEN METABOLISM; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 5; HYDROLYSIS; NONHUMAN; PRIORITY JOURNAL;

EID: 0034609942     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1006/bbrc.2000.3555     Document Type: Article

References (37)

1. Alpha-glucosidase deficiency in generalized glycogen storage disease (Pompe's Disease)
2. Biosynthesis of lysosomal enzymes in fibroblasts
3. Trafficking of lysosomal enzymes in normal and disease states
4. The biogenesis of membranes and organelles
5. Over idiopatische hypertrophic van het hart. ned. tijdschr.
6. Glycogerose musculaire par deficit d'alpha 1-4 glucosidase stimulant un dystrophie musculaire progressive
7. The spectrum and diagnosis of acid maltase deficiency
8. Residual acid maltase activity in late onset acid maltase deficiency
9. Glycogen storage diseases
10. Isolation of a cDNA for human acid alpha glucosidase and detection of genetic heterogeneity for mRNA in three alpha glucosidase deficient patients
11. Sequence of the cDNA and 5' flanking region for human acid alpha glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18 base pair polymorphisms and differences with previous cDNA and amino acid sequences
12. Glycogenosis type II: Protein and DNA analysis in five south African families from various ethnic origins
13. Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA
14. Glycogenosis type II (acid maltase deficiency)
15. Targeted disruption of the acid alpha glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II
16. Generalized glycogen storgade and cardiomegaly in a knockout mouse model of Pompe disease
17. Expression of a cDNA-encoded acid alpha glucosidase in milk of transgenic mice
18. Recombinant human acid α-glucosidase: High level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII mice
19. High-level production of recombinant human lysosomal acid α-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease
20. Clinical and metabolic correction of Pompe disease by enzyme therapy in acid maltase-deficient quail
21. Identification of the promoter region and transient expression for human acid alpha glucosidase in deficient cells
22. Expression of the routine dihydrofolate reductase complementary deoxyribonucleic acid in Simian virus 40 vectors
23. DNA sequencing with chain-terminating inhibitors
24. Evidence for the identity of alpha-glucosidase AB and the glycoprotein processing enzyme glucosidase II: Biochemical and genetic studies
25. Further studies of the structure of human placental acid alphagiucosidase
26. Detection of specific sequences among DNA fragments by gel electrophoresis
27. Characterization of neutral isozymes of human alpha-glucosidase
28. Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice
29. Prospect for enzyme replacement therapy in glycogenosis II variants: A study on cultured muscle cells
30. Receptor mediated uptake of acid alpha-glucosidase corrects lysosomal glycogen storage in cultured skeletal muscle
31. α-1,4-glucosidase-albumin polmers: In vitro properties and advantages for enzyme replacement therapy
32. 2-macroglobulin as a transport vehicle
33. Recombinant human acid alpha glucosidase generated in bacteria: Antigenic, but enzymatically inactive
34. Amplification and expression of sequences cotransfected with a modular dihydrofolate reductase complementary DNA gene
35. Gene amplification in cultured animal cells
36. Gene amplification