Results 81 to 90 of about 5,730 (195)

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

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

Predicción computacional de la estructura terciaria de la iduronato 2-sulfato sulfatasa humana

Biomédica: revista del Instituto Nacional de Salud, 2007
Introducción. El síndrome de Hunter o mucopolisacaridosis tipo II (MC KUSIK 309900) es causado por la deficiencia de la iduronato 2-sulfato sulfatasa humana (E.C. 3.1.6.13).
Homero Sáenz, Leonardo Lareo, Raúl A. Poutou, Ángela C. Sosa, Luis A. Barrera   +4 more
doaj   +1 more source

Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency

Вопросы современной педиатрии, 2020
Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is the hereditary lysosomal storage disease caused by pathological variants in IDS gene. Such variants lead to iduronate-2-sulfatase enzyme deficiency and glycosaminoglycan catabolism disorder ...
Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Grigory V. Revunenkov, Tina V. Lobjanidze, Marina A. Babaikina   +6 more
doaj   +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

Sulfatase gene distribution and sub-classification in Planctomycetes and related strains.

, 2016
(a) Number of sulfatase genes in various Planctomycetes and related strains. Only sulfatase genes encoding the active site and ≥350 amino acid residues were included. (b) Functional subclasses of sulfatases present in P1, P2, P3, R.
Matthew Zane (2576311), John W. Stiller (197378), Jerry Jenkins (172005), Kurt LaButti (114830), Arthur R. Grossman (29860), Konstantinos Mavromatis (13836), Matt Nolan (2576314), Jay W. Kim (2576308), Jane Grimwood (172021), Simon Prochnik (61665), Mansi Chovatia (454148), Susan H. Brawley (392364), Jeremy Schmutz (172027)   +12 more
core   +1 more source

Non-invasive intravenous administration of AAV9 transducing iduronate sulfatase leads to global metabolic correction and prevention of neurologic deficits in a mouse model of Hunter syndrome. [PDF]

Mol Genet Metab Rep, 2023
Laoharawee K, Podetz-Pedersen KM, Nguyen TT, Singh SM, Smith MC, Belur LR, Low WC, Kozarsky KF, McIvor RS.   +8 more
europepmc   +1 more source

Proportional relationship between idursulfase-IT dose and CSF I2S AUC_inf and C_max.

, 2015
AUCinf, area under the serum concentration-time curve extrapolated to infinity; Cmax, maximum observed concentration; CSF, cerebrospinal fluid; I2S, iduronate-2-sulfatase.
Hongsheng Xie (716868), Thomas G. McCauley (716871), Jou-Ku Chung (716869), Mary Ann Mascelli (716870)   +3 more
core   +1 more source

Endoplasmic Reticulum and Lysosomal Quality Control of Four Nonsense Mutants of Iduronate 2-Sulfatase Linked to Hunter's Syndrome. [PDF]

, 2019
Hunter's syndrome (mucopolysaccharidosis type II) is a rare X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene. Motivated by the case of a child affected by this syndrome, we compared the intracellular fate of
Galli, Carmela, Enrico M. A. Fassi, Baumgartner, Matthias R; https://orcid.org/, Fassi, Enrico M. A., Marazza, Alessandro, Molinari, Maurizio, Sgrignani, Jacopo, Andrea Cavalli, Burda, Patricie, Matthias Baumgartner, Fassi, Enrico M A, Baumgartner, Matthias, Maurizio Molinari, Fasana, Elisa, Cavalli, Andrea, Cavalli A, Baumgartner, M., Burda, P., Fassi EMA, Galli C, Fasana E, Molinari, M., Marazza A, Sgrignani J, Fasana, E., Fassi, E. M. A., Sgrignani, J., Marazza, A., Baumgartner M, Molinari M, Cavalli, A., Galli, C., Burda P   +32 more
core   +1 more source

Human sulfatase transiently and functionally active expressed in E. coli K12 [PDF]

, 2010
The recombinant human iduronate 2-sulfate sulfatase (hrIDS) was transiently and functionally active expressed in E. coli K12. The enzyme activity (crude extract) at 100 ml and 400 ml oscillated between 0.25 and 10.58 nmol h-1 mg-1.
Pe\uf1a, Olga Yaneth Echeverri, Poutou-Pi\uf1ales, Ra\ufal A., Lareo, Leonardo, S\ue1enz, Homero, Avellaneda, Luis A. Barrera, Homero Sáenz, Sáenz,Homero, Ni\uf1o, Adriana Vanegas, Raúl A. Poutou-Piñales, Poutou-Piñales,Raúl A, Landázuri,Patricia, Leonardo Lareo, Lareo,Leonardo, Echeverri Peña,Olga Yaneth, Olga Yaneth Echeverri Peña, Patricia Landázuri, Luis A. Barrera Avellaneda, Vanegas Niño,Adriana, Adriana Vanegas Niño, Barrera Avellaneda,Luis A, Land\ue1zuri, Patricia   +20 more
core   +1 more source