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Literature summary for 3.2.1.76 extracted from
- Laronidase (Aldurazyme): enzyme replacement therapy for mucopolysaccharidosis type I (2008), Expert. Opin. Biol. Ther., 8, 1003-1009.
Application
| Application | Comment | Organism |
|---|---|---|
| medicine | commercially available recombinant human laronidase (Aldurazyme) infusion is safe and effective in stabilizing or improving pulmonary function and physical endurance. Preclinical trials of the enzyme in the canine, dog and feline model and clinicial trials with affected patients with mucopolysaccharidosis type I | Homo sapiens |
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| commercially available recombinant human iduronidase (Aldurazyme) produced in Chinese-hamster-ovary cells | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| additional information | over 100 disease-causing IDUA mutations identified in patients with mucopolysaccharidosis type I. Most common mutations that introduce premature stop codons are p.W402X and p.Q70X. Deficient IDUA activity results in the accumulation of dermatan and heparan sulfate in urine of affected individuals | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| Aldurazyme | - |
Homo sapiens |
| IDUA | - |
Homo sapiens |
| iduronidase | - |
Homo sapiens |
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Release 2023.1 (January 2023)
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