Cargando…

A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients

PURPOSE: Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare lysosomal storage disorder caused by iduronate-2-sulfatase (IDS) deficiency. MPS II causes a wide phenotypic spectrum of symptoms ranging from mild to severe. IDS activity, which is measured in leukocyte pellets or fibrobla...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lee, Ok Jeong, Kim, Su-Jin, Sohn, Young Bae, Park, Hyung-Doo, Lee, Soo-Youn, Kim, Chi-Hwa, Ko, Ah-Ra, Yook, Yeon-Joo, Lee, Su-Jin, Park, Sung Won, Kim, Se-Hwa, Cho, Sung-Yoon, Kwon, Eun-Kyung, Han, Sun Ju, Jin, Dong-Kyu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Pediatric Society 2012
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315624/ https://www.ncbi.nlm.nih.gov/pubmed/22474463 http://dx.doi.org/10.3345/kjp.2012.55.3.88

Ejemplares similares

Changes in Glycogen and Glycosaminoglycan Levels in Hepatocytes of Iduronate-2-Sulfatase Knockout Mice before and after Recombinant Iduronate-2-Sulfatase Supplementation
por: Lee, Jee Hyun, et al.
Publicado: (2011)

Insights into Hunter syndrome from the structure of iduronate-2-sulfatase
por: Demydchuk, Mykhaylo, et al.
Publicado: (2017)

Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment
por: Mazzoccoli, Gianluigi, et al.
Publicado: (2013)

Iduronate-2-sulfatase transport vehicle rescues behavioral and skeletal phenotypes in a mouse model of Hunter syndrome
por: Arguello, Annie, et al.
Publicado: (2021)

Bioinformatic Analysis of the Human Recombinant Iduronate 2-Sulfate Sulfatase
por: Morales-Álvarez, Edwin D., et al.
Publicado: (2016)

Identification of the iduronate-2-sulfatase proteome in wild-type mouse brain
por: Cardona, Carolina, et al.
Publicado: (2019)

Iduronate-2-sulfatase interactome: validation by yeast two-hybrid assay
por: Benincore-Flórez, Eliana, et al.
Publicado: (2022)

Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome)
por: Sohn, Young Bae, et al.
Publicado: (2013)

Quantification of the enzyme activities of iduronate-2-sulfatase, N-acetylgalactosamine-6-sulfatase and N-acetylgalactosamine-4-sulfatase using liquid chromatography-tandem mass spectrometry
por: Mashima, Ryuichi, et al.
Publicado: (2017)

Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II
por: Chkioua, Latifa, et al.
Publicado: (2011)

Clinical, biochemical, and genetic analysis of two Korean patients with Trichorhinophalangeal syndrome type I and growth hormone deficiency
por: Sohn, Young Bae, et al.
Publicado: (2013)

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
por: Laoharawee, Kanut, et al.
Publicado: (2023)

Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases
por: Saito, Seiji, et al.
Publicado: (2016)

LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls
por: Park, Sung Won, et al.
Publicado: (2012)

The Effect of Recombinant Human Iduronate-2-Sulfatase (Idursulfase) on Growth in Young Patients with Mucopolysaccharidosis Type II
por: Żuber, Zbigniew, et al.
Publicado: (2014)

Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan
por: Hattori, Yusuke, et al.
Publicado: (2023)

Impact of Enzyme Replacement Therapy on Linear Growth in Korean Patients with Mucopolysaccharidosis Type II (Hunter Syndrome)
por: Cho, Sung Yoon, et al.
Publicado: (2014)

Dose-dependent effects of a brain-penetrating iduronate-2-sulfatase on neurobehavioral impairments in mucopolysaccharidosis II mice
por: Morimoto, Hideto, et al.
Publicado: (2022)

A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation
por: Mashima, Ryuichi, et al.
Publicado: (2023)

Erratum: Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA
por: Lee, Na Hee, et al.
Publicado: (2013)

Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA
por: Lee, Na Hee, et al.
Publicado: (2012)

Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II
por: Osaki, Yosuke, et al.
Publicado: (2018)

Toxicology Study of Intra-Cisterna Magna Adeno-Associated Virus 9 Expressing Iduronate-2-Sulfatase in Rhesus Macaques
por: Hordeaux, Juliette, et al.
Publicado: (2018)

Comparative studies of vertebrate iduronate 2-sulfatase (IDS) genes and proteins: evolution of A mammalian X-linked gene
por: Holmes, Roger S.
Publicado: (2017)

Iduronate-2-Sulfatase-Regulated Dermatan Sulfate Levels Potentiate the Invasion of Breast Cancer Epithelia through Collagen Matrix
por: Singh, Vishal, et al.
Publicado: (2019)

Transferrin Receptor-Targeted Iduronate-2-sulfatase Penetrates the Blood-Retinal Barrier and Improves Retinopathy in Mucopolysaccharidosis II Mice
por: Imakiire, Atsushi, et al.
Publicado: (2023)

Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial
por: Okuyama, Torayuki, et al.
Publicado: (2019)

Serum levels of FGF21 are reduced and negatively correlated with adiponectin in children with Prader-Willi syndrome
por: Kim, Su Jin, et al.
Publicado: (2013)

Iduronate-2-sulfatase fused with anti-hTfR antibody, pabinafusp alfa, for MPS-II: A phase 2 trial in Brazil
por: Giugliani, Roberto, et al.
Publicado: (2021)

Efficacy and safety of allogenic canine adipose tissue-derived mesenchymal stem cell therapy for insulin-dependent diabetes mellitus in four dogs: A pilot study
por: RHEW, Sung-Yong, et al.
Publicado: (2021)

The metabolic syndrome and body composition in childhood cancer survivors
por: Sohn, Young Bae, et al.
Publicado: (2011)

A novel CRISPR/Cas9-based iduronate-2-sulfatase (IDS) knockout human neuronal cell line reveals earliest pathological changes
por: Badenetti, Lorenzo, et al.
Publicado: (2023)

Enhanced expression of cyclooxygenase‐2 related multi‐drug resistance gene in melanoma and osteosarcoma cell lines by TSG‐6 secreted from canine adipose‐derived mesenchymal stem/stromal cells
por: Yang, Se‐Jin, et al.
Publicado: (2021)

Upper gastrointestinal bleeding caused by direct invasion of diffuse large B-cell lymphoma into the stomach in a patient with HIV infection: A case report
por: Kim, Mo Se, et al.
Publicado: (2019)

Nonclinical safety evaluation of pabinafusp alfa, an anti-human transferrin receptor antibody and iduronate-2-sulfatase fusion protein, for the treatment of neuronopathic mucopolysaccharidosis type II
por: Yamamoto, Ryuji, et al.
Publicado: (2021)

Feline adipose tissue-derived mesenchymal stem cells pretreated with IFN-γ enhance immunomodulatory effects through the PGE(2) pathway
por: Park, Seol-Gi, et al.
Publicado: (2021)

Carcinoma Mixed within Milk of Calcium in a Breast: a Case Report
por: Park, Ji-Sung, et al.
Publicado: (2008)

The Role of Steroid Sulfatase as a Prognostic Factor in Patients with Endometrial Cancer
por: Lee, Won Moo, et al.
Publicado: (2016)

Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II
por: Cho, Sung Yoon, et al.
Publicado: (2015)

Transient thrombocytopenia in a cat following G‐CSF treatment
por: Kim, Kyeong‐Bo, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_aa8vo9rk5nkdemjmp81agrurca