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Literature summary for 3.2.1.76 extracted from

  • Baldo, G.; Quoos Mayer, F.; Burin, M.; Carrillo-Farga, J.; Matte, U.; Giugliani, R.
    Recombinant encapsulated cells overexpressing alpha-L-iduronidase correct enzyme deficiency in human mucopolysaccharidosis type I cells (2012), Cells Tissues Organs, 195, 323-329.
    View publication on PubMed
Search for more literature for 3.2.1.76

Application

Application Comment Organism
medicine a clone overexpressing the enzyme and, after encapsulation in alginate microcapsules, correcting MPS I human skin fibroblasts.These capsules can be surgically implanted in sites which are difficult to reach such as the brain of animal models and can be an approach for the treatment of MPS I and other lysosomal storage disorders Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
recombinant expression in baby hamster kidney cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information ability of recombinant baby hamster kidney cells transfected with human IDUA cDNA in correcting skin fibroblasts from mucopolysaccharidosis I patients in vitro, after encapsulation in alginate microcapsules, overview. The cells use the mannose-6-phosphate receptor to internalize the recombinant enzyme Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
lysosome
-
 Homo sapiens 5764
-

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
69000
-
 x * 69000 Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
skin fibroblast
-
 Homo sapiens
-

Subunits

Subunits Comment Organism
? x * 69000 Homo sapiens

Synonyms

Synonyms Comment Organism
alpha-L-iduronidase
-
 Homo sapiens
IDUA
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction mucopolysaccharidosis I is an autosomal recessive lysosomal storage disease due to deficient alpha-L-iduronidase activity. It results in the accumulation of the glycosaminoglycans heparan and dermatan sulfate and leads to several clinical manifestations Homo sapiens