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Literature summary for 3.2.1.50 extracted from

  • Yogalingam, G.; Luu, A.R.; Prill, H.; Lo, M.J.; Yip, B.; Holtzinger, J.; Christianson, T.; Aoyagi-Scharber, M.; Lawrence, R.; Crawford, B.E.; LeBowitz, J.H.
    BMN 250, a fusion of lysosomal alpha-N-acetylglucosaminidase with IGF2, exhibits different patterns of cellular uptake into critical cell types of Sanfilippo syndrome B disease pathogenesis (2019), PLoS ONE, 14, e0207836 .
    View publication on PubMedView publication on EuropePMC
Search for more literature for 3.2.1.50

Application

Application Comment Organism
medicine a minimum threshold of about 20% of wild type residual enzyme activity levels is required to completely prevent accumulation of heparan sulfate in Sanfilippo syndrome type B patient fibroblasts. BMN 250 cellular uptake under very limiting and transient exposure conditions occurs in sufficient amounts to reach this threshold Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
expressed in CHO cells Homo sapiens

Localization

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

Organism

Organism UniProt Comment Textmining
Homo sapiens P54802
-
-

Source Tissue

Source Tissue Comment Organism Textmining
microglia
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4-methylumbelliferyl N-acetyl-alpha-D-glucosaminide + H2O
-
 Homo sapiens 4-methylumbelliferone + N-acetyl-alpha-D-glucosamine
-
 ?

Synonyms

Synonyms Comment Organism
BMN 250 tralesinidase alfa, a fusion protein of lysosomal alpha-N-acetylglucosaminidase with insulin-like growth factor 2 Homo sapiens
NAGLU
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction enzyme mutations cause the Sanfilippo B syndrome which leads to severe neurodegenerative disease and early death Homo sapiens