Results 61 to 70 of about 2,839 (212)

A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report

Frontiers in Genetics, 2020
RationaleMucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S).
Caio Perez Gomes, Maryana Mara Marins, Fabiana Louise Motta, Sandra Obikawa Kyosen, Marco Antonio Curiati, Vânia D’Almeida, Ana Maria Martins, João Bosco Pesquero   +7 more
doaj   +1 more source

Therapeutic potential of stem cells in pediatric neurology: Insights from clinical trials

Neuroprotection, Volume 3, Issue 4, Page 303-321, December 2025.
Key characteristics of stem cells. Stem cells are essential in therapy due to their ability to self‐renew, ensuring a continuous supply of cells. They can derive from various sources, primarily embryonic tissue, and adult organs such as bone marrow and adipose tissue.
Daniel Bou Najm, Saada Alame
wiley   +1 more source

Heparan sulfate and heparin interactions with proteins. [PDF]

, 2015
Heparan sulfate (HS) polysaccharides are ubiquitous components of the cell surface and extracellular matrix of all multicellular animals, whereas heparin is present within mast cells and can be viewed as a more sulfated, tissuespecific, HS variant.
Alessandri G, Andrew K. Powell, Ashley J. Hughes, Casu B, Dietrich CP, Edwin A. Yates, Guimond S, Helena B. Nader, Kato M, Landt M, Lyon M, Maccarana M, Marcelo A. Lima, Maria C. Z. Meneghetti, Porcionatto MA, Timothy R. Rudd, Toth L, Turnbull JE, Walker A   +18 more
core   +1 more source

Identification of 6 new mutations in the iduronate sulfatase gene [PDF]

Human Mutation, 1999
Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme iduronate-2-sulfatase. We sequenced genomic DNA and RT-PCR products in the iduronate sulfatase (IDS) gene in 6 unrelated patients with Hunter syndrome to assess genotype / phenotype relationships and offer carrier testing where
Hilary D. Vallance, Lynn Bernard, Michael Rashed, Doris Chiu, Grace Le, Jenny Toone, Derek A. Applegarth, Marion Coulter-Mackie   +7 more
openaire   +1 more source

Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Lysosomal disorders (LSDs) are a group of rare metabolic disorders, with an overall incidence of 1:4800 to 1:8000 live births. LSDs are primarily caused by dysfunctional lysosomal enzymes, which typically lead to the progressive accumulation of substrates within cellular lysosomes.
Maryann Lorino, Bei Qiu, Brian Bigger
wiley   +1 more source

Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II

Molecular Genetics and Metabolism Reports, 2023
Mucopolysaccharidosis type II (MPS II, OMIM 309900) is an X-linked disorder caused by a deficiency of lysosomal enzyme iduronate-2-sulfatase (IDS). The clinical manifestations of MPS II involve cognitive decline, bone deformity, and visceral disorders ...
Narutoshi Yamazaki, Mari Ohira, Shuji Takada, Akira Ohtake, Masafumi Onodera, Mahito Nakanishi, Torayuki Okuyama, Ryuichi Mashima   +7 more
doaj   +1 more source

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

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

Fusion of RVG or gh625 to Iduronate-2-Sulfatase for the Treatment of Mucopolysaccharidosis Type II [PDF]

, 2023
Mucopolysaccharidosis type II (MPSII) is a lysosomal storage disease caused by a mutation in the IDS gene, resulting in deficiency of the enzyme iduronate-2-sulfatase (IDS) causing heparan sulfate (HS) and dermatan sulfate (DS) accumulation in all cells.
Bigger, Brian, Burgod, Constance, Chaudrhy, Ahsan, Cook, James, Ellison, Stuart, Forte, Gabriella, Gleitz, Helene F, Holley, Rebecca Jane, Liao, Aiyin, O'Leary, Claire, Searle, Rachel, Tehseen, Ghazala, Wood, Shaun Roger   +12 more
core  

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