Results 71 to 80 of about 2,595 (198)

Multifaceted enrichment analysis of RNA-RNA crosstalk reveals cooperating micro-societies in human colorectal cancer [PDF]

, 2016
Alterations in the balance of mRNA and microRNA (miRNA) expression profiles contribute to the onset and development of colorectal cancer. The regulatory functions of individual miRNA-gene pairs are widely acknowledged, but group effects are largely ...
Biagini, Tommaso, Capocefalo, Daniele, Carella, Massimo, Castellana, Stefano, De Cata, Angelo, Fusilli, Caterina, Gentile, Annamaria, Mazza, Tommaso, Mazzoccoli, Gianluigi, Palumbo, Orazio, Panza, Anna, Piepoli, Ada, Rubino, Rosa, Stallone, Raffaella   +13 more
core   +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

Plasmatic and urinary glycosaminoglycans characterization in mucopolysaccharidosis II Patient treated with enzyme-replacement therapy with Idursulfase [PDF]

, 2012
We report the structural characterization of plasmatic and urinary GAGs in a Patient affected by MPS II (Hunter syndrome) before and during the first ten months of enzyme-replacement therapy (ERT).
AM Martins, C Alcalde-Martín, CB Whitley, CP Dietrich, CR Lima de, D Buzzega, ES Neufeld, F Maccari, GV Coppa, GV Coppa, GV Coppa, GV Coppa, I Sjöberg, J Muenzer, J Muenzer, J Muenzer, JE Wraith, K Tuschl, L Chi, M Fuller, M Fuller, M Juvani, N Volpi, N Volpi, N Volpi, N Volpi, N Volpi, N Volpi, N Volpi, PJ Meikle, R Martin, RW Burlingame, T Okuyama   +32 more
core   +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

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

Challenges in the Management of Mucopolysaccharidosis Type II (Hunter’s Syndrome) in a Developing Country: a Case Report [PDF]

, 2015
BACKGROUND: Mucopolysaccharidosis type II (Hunter's syndrome) is an X-linked chromosomal storage disorder due to deficiency of the lysosomal enzyme iduronate-2-sulfatase with patients rarely living till adulthood. Failure to identify patients early could
AbdulAzeez, A, Abdulkadri, M, Ibraheem, G, Ibraheem, R, Katibi, S, Oladele, P   +5 more
core   +2 more sources

Uptake of recombinant iduronate-2-sulfatase into neuronal and glial cells in vitro

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2002
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a congenital storage disorder resulting from mutations on the iduronate-2-sulfatase (IDS) gene. The disease shows variable clinical phenotypes from severe to mild with progressive neurological dysfunction.
Daniele, A, Tomanin, R, Villani, G. R. D, Zacchello, F, Scarpa, M, Di Natale, P   +5 more
openaire   +6 more sources

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

Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome) [PDF]

, 2019
Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human IDS gene is located in chromosome Xq28.
Amartino, H., Arberas, C., Bay, L., Cabrera, A., Ceci, Romina, Dipierri, J., Gal, A., Ilari, R., Masllorens, F., Rozenfeld, P., Specola, N.   +10 more
core   +3 more sources

Identification of an Alternative Transcript from the Human Iduronate-2-sulfatase (IDS) Gene

Genomics, 1995
Iduronate-2-sulfatase (IDS) is involved in the degradation of heparan sulfate and dermatan sulfate in the lysosomes, and a deficiency in this enzyme results in Hunter syndrome. A 2.3-kb cDNA clone that contains the entire coding sequence of IDS has previously been reported.
H, Malmgren, B M, Carlberg, U, Pettersson, M L, Bondeson   +3 more
openaire   +2 more sources