Literature summary for 3.10.1.1 extracted from

Jones, S.A.; Breen, C.; Heap, F.; Rust, S.; de Ruijter, J.; Tump, E.; Marchal, J.P.; Pan, L.; Qiu, Y.; Chung, J.K.; Nair, N.; Haslett, P.A.; Barbier, A.J.; Wijburg, F.A.
A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA (2016), Mol. Genet. Metab., 118, 198-205 .

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Application

Application	Comment	Organism
medicine	administration of recombinant human heparan-N-sulfatase via intrathecal drug delivery device appears generally safe and well tolerated in patients with mucopolysaccharidosis IIIA. Treatment results in consistent declines in heparan sulfate in cerebrospinal fluid, suggesting in vivo activity in the relevant anatomical compartment	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P51688	-	-

Synonyms

Synonyms	Comment	Organism
heparan-N-sulfatase	-	Homo sapiens
SGSH	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	mucopolysaccharidosis IIIA (MPS IIIA, Sanfilippo syndrome type A) is a lysosomal storage disorder caused by a deficiency of the enzyme heparan-N-sulfatase (EC 3.10.1.1), leading to accumulation of the glycosaminoglycan, heparan sulfate, in the lysosomes	Homo sapiens

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Release 2023.1 (January 2023)