Results 101 to 110 of about 97,768,729 (189)

On the Mechanism of the Lysosomal Enzyme Iduronate‐2‐sulfatase. A Multiscale Approach

ChemCatChem
AbstractIduronate‐2‐sulfatase (IDS) is a Ca2+‐dependent enzyme belonging to the family of sulfatases that catalyzes the hydrolysis of sulphurylated glycosaminoglycans (GAGs), like dermatan and heparan sulphate. Its deficiency or modification leads to the accumulation of GAGs in the human body and to the occurrence of severe conditions, such as Hunter ...
Prejanò, Mario, Romeo, Isabella, Talerico, Cristina, Parise, Angela, Russo, Nino, Marino, Tiziana   +5 more
openaire   +1 more source

Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report

Molecular Genetics and Metabolism Reports
Mucopolysaccharidosis II (MPS II) is a lysosomal storage disease caused by a deficiency in iduronate-2-sulfatase (IDS), leading to the accumulation of dermatan sulfate and heparan sulfate in lysosomes.
Yusuke Hattori, Jun Kido, Keishin Sugawara, Takaaki Sawada, Shirou Matsumoto, Kimitoshi Nakamura   +5 more
doaj   +1 more source

Nonclinical safety evaluation of pabinafusp alfa, an anti-human transferrin receptor antibody and iduronate-2-sulfatase fusion protein, for the treatment of neuronopathic mucopolysaccharidosis type II. [PDF]

Mol Genet Metab Rep, 2021
Yamamoto R, Yoden E, Tanaka N, Kinoshita M, Imakiire A, Hirato T, Minami K.   +6 more
europepmc   +1 more source

Mean CSF I2S concentration-time profiles.

, 2015
After intravenous and IT-L dosing, mean CSF I2S concentration-time profiles were determinedwith CSF sampled at the CM level (A) and at the IT-L level (B). Error bars represent standard deviation. CSF, cerebrospinal fluid; I2S, iduronate-2-sulfatase; IT-L,
Hongsheng Xie (716868), Thomas G. McCauley (716871), Jou-Ku Chung (716869), Mary Ann Mascelli (716870)   +3 more
core   +1 more source

Mucopolysaccharidosis type II and the G374sp mutation

, 2013
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans resulting in ...
Martínez-Quintana, E., Rodríguez-González, F.   +1 more
core   +1 more source

Iduronate 2-Sulfatase [PDF]

, 2020
openaire   +1 more source

The diagnosis and management of mucopolysaccharidosis type II

Italian Journal of Pediatrics
Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive inherited lysosomal storage disease. With pathogenic variants of the IDS gene, the activity of iduronate-2-sulfatase (IDS) is reduced or lost, causing the inability to degrade ...
Shao-Jia Mao, Qing-Qing Chen, Yang-Li Dai, Guan-Ping Dong, Chao-Chun Zou   +4 more
doaj   +1 more source

A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase. [PDF]

Mol Genet Metab Rep, 2020
Fukuhara Y, Miura A, Yamazaki N, So T, Kosuga M, Yanagi K, Kaname T, Yamagata T, Sakuraba H, Okuyama T.   +9 more
europepmc   +1 more source

Attenuated Hunter Syndrome

, 2015
Hunter Syndrome (HS) is a multisystemic disorder characterized by glycosaminoglycan (GAG) accumulation due to enzyme deficiency of iduronate 2-sulfatase.
Kannan Narayana; Lau Heather; Rachel Nolan; Rucker Janet; Balcer Laura; Galetta Steven
core  

Exposure to Common Food Additive Carrageenan Leads to Reduced Sulfatase Activity and Increase in Sulfated Glycosaminoglycans in Human Epithelial Cells

, 2012
The commonly used food additive carrageenan, including lambda (λ), kappa (κ) and iota (ι) forms, is composed of galactose disaccharides linked in alpha-1,3 and beta-1,4 glycosidic bonds with up to three sulfate groups per disaccharide residue ...
Sumit Bhattacharyya (14205), Robert Linhardt (3590762), Joanne Tobacman (7924235), Bo Yang (104813)   +3 more
core   +1 more source