Results 71 to 80 of about 2,839 (212)

A RARE CASE OF HUNTER SYNDROME – CASE REPORT [PDF]

Romanian Journal of Pediatrics, 2015
Mucopolysaccharidoses (MPSs) are a group of rare genetic disorders within the larger family of lysosomal diseases. MPSs disorders are caused by a defi ciency in the activity of a specifi c lysosomal enzyme required for the degradation of ...
Lorena Elena Melit, Oana Marginean, Carmen Duicu, Cristina Campean, Maria Oana Marginean   +4 more
doaj   +1 more source

Ancestral lysosomal enzymes with increased activity harbor therapeutic potential for treatment of Hunter syndrome

iScience, 2021
Summary: We show the successful application of ancestral sequence reconstruction to enhance the activity of iduronate-2-sulfatase (IDS), thereby increasing its therapeutic potential for the treatment of Hunter syndrome—a lysosomal storage disease caused ...
Natalie M. Hendrikse, Anna Sandegren, Tommy Andersson, Jenny Blomqvist, Åsa Makower, Dominik Possner, Chao Su, Niklas Thalén, Agneta Tjernberg, Ulrica Westermark, Johan Rockberg, Stefan Svensson Gelius, Per-Olof Syrén, Erik Nordling   +13 more
doaj   +1 more source

Gene editing in liver diseases

FEBS Letters, Volume 598, Issue 19, Page 2348-2371, October 2024.
Gene editing consists of the deliberate and precise modification of the host genome. It can be used for therapeutic purposes to treat genetic diseases, including inherited liver disorders, by inserting therapeutic genes, correcting pathogenic genes, or modulating the expression of specific genes.
Laura Torella, Nerea Santana‐Gonzalez, Nerea Zabaleta, Gloria Gonzalez Aseguinolaza   +3 more
wiley   +1 more source

Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan

Molecular Genetics and Metabolism Reports, 2023
Mucopolysaccharidosis II (MPS II) is an X-linked, recessive, inborn metabolic disorder caused by defects in iduronate-2-sulfatase (IDS). The age at onset, disease severity, and rate of progression vary significantly among patients.
Yusuke Hattori, Takaaki Sawada, Jun Kido, Keishin Sugawara, Shinichiro Yoshida, Shirou Matsumoto, Takahito Inoue, Shinichi Hirose, Kimitoshi Nakamura   +8 more
doaj   +1 more source

Low-Scale Expression and Purification of an Active Putative Iduronate 2-Sulfate Sulfatase-Like Enzyme from Escherichia coli K12 [PDF]

, 2013
The sulfatase family involves a group of enzymes with a large degree of similarity. Until now, sixteen human sulfatases have been identified, most of them found in lysosomes.
Baena Moncada, Angelica Maria, Barrera, Luis A., Echeverri Peña, Olga Y., Landázuri, Patricia, Morales Álvarez, Edwin David, Poutou Piñales, Raúl A., Rivera Hoyos, Claudia Marcela, Sáenz Suárez, Homero   +7 more
core   +1 more source

Non‐syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity

Clinical Genetics, Volume 106, Issue 4, Page 505-511, October 2024.
We describe three patients with biallelic SUMF1 variants, reduced sulfatase enzyme activity, and retinal dystrophy. Phenotypes range from mild systemic manifestations to isolated ocular involvement, representing the mildest documented phenotypes associated with multiple sulfatase deficiency.
Siying Lin, Anthony G. Robson, Dorothy A. Thompson, Karolina M. Stepien, Robin Lachmann, Emma Footitt, Ola Czyz, Shwetha Chandrasekhar, Elena Schiff, Christos Iosifidis, Graeme C. Black, Michel Michaelides, Omar A. Mahroo, Gavin Arno, Andrew R. Webster   +14 more
wiley   +1 more source

Assessment of musculoskeletal abnormalities in children with mucopolysaccharidoses using pGALS [PDF]

, 2014
Background - Children with mucopolysaccharidoses (MPS) often have musculoskeletal (MSK) abnormalities. Paediatric Gait, Arms, Legs, and Spine (pGALS), is a simple MSK assessment validated in school-age children to detect abnormal joints.
Chan, Mercedes, Foster, Helen, Hardy, Elizabeth, Hensman, Pauline, Jones, Simon, Rapley, Timothy, Sen, Ethan, Wraith, Edmond   +7 more
core   +2 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   +4 more sources

A biological guide to glycosaminoglycans: current perspectives and pending questions

The FEBS Journal, Volume 291, Issue 15, Page 3331-3366, August 2024.
Mammalian glycosaminoglycans, except hyaluronan, are sulfated polysaccharides that are covalently attached to core proteins to form proteoglycans. They contribute to the organization of the extracellular matrix and are displayed at the cell surface where they regulate the availability and activity of cytokines and growth factors and cell signaling ...
Sylvie Ricard‐Blum, Romain R. Vivès, Liliana Schaefer, Martin Götte, Rosetta Merline, Alberto Passi, Paraskevi Heldin, Ana Magalhães, Celso A. Reis, Spyros S. Skandalis, Nikos K. Karamanos, Serge Perez, Dragana Nikitovic   +12 more
wiley   +1 more source

Human induced pluripotent stem cell line (PNUSCRi005-A) generated from severe type of Hunter syndrome patient carrying exonic deletion (exon 4–7 del) in in human iduronate 2-sulfatase gene

Stem Cell Research
Mucopolysaccharidosis Type Ⅱ, as Known as Hunter syndrome, is a rare X-liked genetic disease caused by mutations in iduronate-2-sulfatase (IDS) gene.
Nayeon Lee, Haneul Noh, Chong Kun Cheon
doaj   +1 more source