Uptake of recombinant iduronate-2-sulfatase into neuronal and glial cells in vitro
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2002 Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a congenital storage disorder resulting from mutations on the iduronate-2-sulfatase (IDS) gene. The disease shows variable clinical phenotypes from severe to mild with progressive neurological dysfunction.
Daniele, A +5 more
openaire +6 more sources
Identification of an Alternative Transcript from the Human Iduronate-2-sulfatase (IDS) Gene
Genomics, 1995 Iduronate-2-sulfatase (IDS) is involved in the degradation of heparan sulfate and dermatan sulfate in the lysosomes, and a deficiency in this enzyme results in Hunter syndrome. A 2.3-kb cDNA clone that contains the entire coding sequence of IDS has previously been reported.
H, Malmgren +3 more
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Mammalian sulfo-conjugate metabolism [PDF]
, 1987 Sulfoconjugates occur ubiquitously as sulfopolysaccharides, sulfolipids and sulfoproteins. A variety of sulfotransferases catalyze the sulfation process with 3'- phosphoadenosine 5'-phosphosulfate as the sulfate donor.
Balasubramanian, A. S., Mathew, Joy
core
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012 [PDF]
, 2016 core +1 more source
Characterization of human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in Pichia pastoris as potential enzyme for Mucopolysaccharidosis IVA treatment [PDF]
, 2019 Alméciga-Díaz, Carlos J +7 more
core +1 more source
Home treatment in paediatric patients with Hunter syndrome: the first Italian experience [PDF]
, 2013 core +1 more source
Physical health perspective and mental subnormality of a child with Hunter’s disease [PDF]
Hunter’s disease or mucopolysaccharidosis (MPS II) is a rare X-linked recessive disorder caused by deficiency or malfunctioning of the lysosomal enzyme iduronate-2-sulfatase (IDS), leading to progressive accumulation of glycosaminoglycans in almost all ...
Gupta, Anumodan +3 more
core +1 more source
Subtle cellular phenotypes inform pathological and benign genetic mutants in the Iduronate-2 sulfatase gene. [PDF]
Hum Mol GenetViswanathan A +8 more
europepmc +1 more source
Commentary: Lysosomal enzymes engineered to cross the blood-brain barrier are reshaping the therapeutic landscape of neuronopathic mucopolysaccharidoses. [PDF]
NeurotherapeuticsSorrentino NC, Fraldi A.
europepmc +1 more source