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Literature summary for 3.2.1.76 extracted from

  • Kloska, A.; Bohdanowicz, J.; Konopa, G.; Tylki-Szym?ska, A.; Jakobkiewicz-Banecka, J.; Czartoryska, B.; Liberek, A.; Wegrzyn, A.; Wegrzyn, G.
    Changes in hair morphology of mucopolysaccharidosis I patients treated with recombinant human alpha-L-iduronidase (laronidase, Aldurazyme) (2005), Am. J. Med. Genet. A, 139, 199-203.
    View publication on PubMed

Application

Application Comment Organism
pharmacology the enzyme is used in enzyme replacement therapy of mucopolysaccharidosis type I, MPSI, changes in hair morphology of MPSI patients treated with recombinant human enzyme, overview Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information nonsense mutation of residue Q70 is involved in the disease mucopolysaccharidosis type I, MPSI, changes in hair morphology of MPSI patients treated with recombinant human enzyme in enzyme replacement therapy, overview Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens enzyme deficiency causes mucopolysaccharidosis type I, MPSI ?
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
leukocyte
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4-nitrophenyl-alpha-L-iduronide + H2O
-
Homo sapiens 4-nitrophenol + alpha-L-iduronic acid
-
?
additional information enzyme deficiency causes mucopolysaccharidosis type I, MPSI Homo sapiens ?
-
?