Results 11 to 20 of about 5,730 (195)

Insights into Hunter syndrome from the structure of iduronate-2-sulfatase [PDF]

Nature Communications, 2017
Hunter syndrome is a lysosomal storage disease caused by mutations in the enzyme iduronate-2-sulfatase (IDS). Here, the authors present the IDS crystal structure and give mechanistic insights into mutations that cause Hunter syndrome.
Mykhaylo Demydchuk, Chris H. Hill, Aiwu Zhou, Gábor Bunkóczi, Penelope E. Stein, Denis Marchesan, Janet E. Deane, Randy J. Read   +7 more
doaj   +9 more sources

Iduronate-2-sulfatase interactome: validation by yeast two-hybrid assay [PDF]

Heliyon, 2022
Background: Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare X-linked recessive disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS), which activates intracellular accumulation of ...
Eliana Benincore-Flórez, Jorge El-Azaz, Gabriela Alejandra Solarte, Alexander Rodríguez, Luis H. Reyes, Carlos Javier Alméciga-Díaz, Carolina Cardona-Ramírez   +6 more
doaj   +5 more sources

Cloning and Characterization of the cDNA for the Murine Iduronate Sulfatase Gene

Genomics, 1993
Iduronate sulfatase (IDS; EC 3.1.6.13) is a lysosomal enzyme that acts on sulfate groups on C-2 positions of iduronic acid residues of the mucopolysaccharides dermatan and heparan sulfate. A deficiency of this enzyme activity in man leads to Hunter syndrome (Mucopolysaccharidosis type II). We report here the cloning and sequence characterization of the
DANIELE A, FAUST C. J, HERMAN G. E, DI NATALE P, BALLABIO, ANDREA   +4 more
openaire   +5 more sources

The Mouse Iduronate Sulfatase Gene: Identification of a Novel Transcript

Biochemical and Biophysical Research Communications, 1993
Complementary DNAs, cDNAs, coding for iduronate sulfatase (IDS, E.C.3.1.6.13) have been isolated and characterized in man and mouse. The murine cDNA (MTA16) was highly homologous to the human counterpart. By screening the same mouse thymus cDNA library another cDNA (MTA13) was isolated: it is 1831 bp long and is identical to a part of the MTA16 cDNA in
DANIELE A, RUSSO, TOMMASO, BALLABIO, ANDREA, DI NATALE P.   +3 more
openaire   +4 more sources

A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients [PDF]

Korean Journal of Pediatrics, 2012
PurposeMucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare lysosomal storage disorder caused by iduronate-2-sulfatase (IDS) deficiency. MPS II causes a wide phenotypic spectrum of symptoms ranging from mild to severe.
Ok Jeong Lee, Su-Jin Kim, Young Bae Sohn, Hyung-Doo Park, Soo-Youn Lee, Chi-Hwa Kim, Ah-Ra Ko, Yeon-Joo Yook, Su-Jin Lee, Sung Won Park, Se-Hwa Kim, Sung-Yoon Cho, Eun-Kyung Kwon, Sun Ju Han, Dong-Kyu Jin   +14 more
doaj   +3 more sources

Quantification of the enzyme activities of iduronate-2-sulfatase, N-acetylgalactosamine-6-sulfatase and N-acetylgalactosamine-4-sulfatase using liquid chromatography-tandem mass spectrometry

Molecular Genetics and Metabolism Reports, 2018
Mucopolysaccharidosis (MPS) is a genetic disorder characterized by the accumulation of glycosaminoglycans in the body. Of the multiple MPS disease subtypes, several are caused by defects in sulfatases.
Ryuichi Mashima, Mari Ohira, Torayuki Okuyama, Akiya Tatsumi   +3 more
doaj   +2 more sources

Expression of the two iduronate-2-sulfatase cDNAs.

Biochemistry and molecular biology international, 1995
The iduronate-2-sulfatase (IDS) is a lysosomal enzyme that acts on sulphate groups on C-2 positions of the iduronic acid residues of the mucopolysaccharides heparan sulphate and dermatan sulphate. Recently, we described in mouse two IDS mRNAs: the first or canonic (MTA16), highly homologous to the human counterpart, the second or novel (MTA13 ...
DANIELE, Aurora, DI NATALE P.
openaire   +4 more sources

A novel CRISPR/Cas9-based iduronate-2-sulfatase (IDS) knockout human neuronal cell line reveals earliest pathological changes [PDF]

Scientific Reports, 2023
Multiple complex intracellular cascades contributing to Hunter syndrome (mucopolysaccharidosis type II) pathogenesis have been recognized and documented in the past years.
Lorenzo Badenetti, Rosa Manzoli, Marta Trevisan, Francesca D’Avanzo, Rosella Tomanin, Enrico Moro   +5 more
doaj   +3 more sources

Identification of the iduronate-2-sulfatase proteome in wild-type mouse brain [PDF]

Heliyon, 2019
Iduronate-2-sulfatase (IDS) is a lysosomal enzyme involved in the metabolism of the glycosaminoglycans heparan (HS) and dermatan (DS) sulfate. Mutations on IDS gene produce mucopolysaccharidosis II (MPS II), characterized by the lysosomal accumulation of
Carolina Cardona, Eliana Benincore, Natalia Pimentel, Luis H. Reyes, Camilo Patarroyo, Alexander Rodríguez-López, M. Martin-Rufian, Luis Alejandro Barrera, Carlos J. Alméciga-Díaz   +8 more
doaj   +3 more sources

Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up. [PDF]

J Inherit Metab Dis
ABSTRACT This study investigated long‐term cognitive development and genotype–phenotype relationships in patients with Mucopolysaccharidosis Type II (MPS II). A nationwide prospective cohort study was conducted in the Netherlands with cognitive follow‐up since 2007.
Holdorp JJ, Kruijshaar MEM, Vollebregt AAMA, Rietman ABA, Dijkstra MRKM, Klees CC, Wagenmakers MM, Nguyen AHPA, Oussoren EE, van der Ploeg ATA, van den Hout JMPH.   +10 more
europepmc   +2 more sources