Results 71 to 80 of about 2,842 (215)

Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase‐IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
Abstract Mucopolysaccharidosis II (MPS II; Hunter syndrome; OMIM 309900) is a rare, X‐linked, heterogeneous lysosomal storage disease. Approximately two‐thirds of patients develop cognitive impairment, which is difficult to assess in clinical trials, partly owing to the variable nature of cognitive impairment.
Joseph Muenzer, Barbara K. Burton, Paul Harmatz, Luis González Gutiérrez‐Solana, Matilde Ruiz‐Garcia, Simon A. Jones, Nathalie Guffon, Michal Inbar‐Feigenberg, Drago Bratkovic, Stewart Rust, Michael Hale, Yuna Wu, Karen S. Yee, David A. H. Whiteman, David Alexanderian   +14 more
wiley   +1 more source

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

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

Natural history of valve disease in patients with mucopolysaccharidosis II and the impact of enzyme replacement therapy

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare, X‐linked lysosomal storage disease caused by reduced activity of iduronate‐2‐sulfatase (I2S), with subsequent cellular accumulation of the glycosaminoglycans (GAGs), heparan sulfate, and dermatan sulfate (DS).
Christoph Kampmann, Christina Lampe, Christiane M. Wiethoff, Laila Arash‐Kaps, Eugen Mengel, Joerg Reinke, Michael Beck, Julia B. Hennermann, Tariq Abu‐Tair   +8 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

Unifying biology of neurodegeneration in lysosomal storage diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract There are currently at least 70 characterised lysosomal storage diseases (LSD) resultant from inherited single‐gene defects. Of these, at least 30 present with central nervous system (CNS) neurodegeneration and overlapping aetiology. Substrate accumulation and dysfunctional neuronal lysosomes are common denominator, but how variants in 30 ...
Anna M. Ludlaim, Simon N. Waddington, Tristan R. McKay   +2 more
wiley   +1 more source

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

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

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