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Literature summary for 3.2.1.50 extracted from

  • Yogalingam, G.; Weber, B.; Meehan, J.; Rogers, J.; Hopwood, J.J.
    Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient (2000), Biochim. Biophys. Acta, 1502, 415-425.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
R297X and F48L mutant alleles are engineered into the wild-type alpha-N-acetylglucosaminidase and expressed in Chinese hamster ovary cells. Wild-type enzyme and F48L mutant alleles are retrovirally expressed in mucopolysaccharidosis type IIIB skin fibroblasts Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens mucopolysaccharidosis type IIIB is a lysosomal storage disorder characterized by the defective degradation of heparan sulfate due to a deficiency of alpha-N-acetylglucosaminidase. The clinical severity of mucopolysacchariddosis type IIIB ranges from an attenuated to severely affected Sanfilippo phenotype. Relationship between genotype, cellular biochemistry and clinical phenotype in a F48L/R297X compound heterozygous mucopolysaccharidosis type IIIB patient with an attenuated Sanfilippo phenotype ?
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Organism

Organism UniProt Comment Textmining
Homo sapiens
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information mucopolysaccharidosis type IIIB is a lysosomal storage disorder characterized by the defective degradation of heparan sulfate due to a deficiency of alpha-N-acetylglucosaminidase. The clinical severity of mucopolysacchariddosis type IIIB ranges from an attenuated to severely affected Sanfilippo phenotype. Relationship between genotype, cellular biochemistry and clinical phenotype in a F48L/R297X compound heterozygous mucopolysaccharidosis type IIIB patient with an attenuated Sanfilippo phenotype Homo sapiens ?
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Synonyms

Synonyms Comment Organism
NAG
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Homo sapiens