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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.
Lee N, Noh H, Cheon CK. Lee N, et al. Stem Cell Res. 2025 Mar;83:103639. doi: 10.1016/j.scr.2024.103639. Epub 2024 Dec 31. Stem Cell Res. 2025. PMID: 39793273 Free article.
Mucopolysaccharidosis Type , as Known as Hunter syndrome, is a rare X-liked genetic disease caused by mutations in iduronate-2-sulfatase (IDS) gene. We obtained peripheral blood mononuclear cells (PBMCs) from a patient with a severe type of Hunter syndrome ca …
Mucopolysaccharidosis Type , as Known as Hunter syndrome, is a rare X-liked genetic disease caused by mutations in iduronate-2 …
Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey.
Muenzer J, Amartino H, Burton BK, Scarpa M, Tylki-Szymańska A, Audi J, Botha J, Fertek D, Merberg D, Natarajan M, Whiteman DAH, Giugliani R. Muenzer J, et al. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108576. doi: 10.1016/j.ymgme.2024.108576. Epub 2024 Sep 10. Mol Genet Metab. 2024. PMID: 39303318 Free article.
PURPOSE: This study investigated the relationship between mucopolysaccharidosis II (MPS II) iduronate-2-sulfatase gene (IDS) variants and phenotypic characteristics, particularly cognitive impairment, using data from the Hunter Outcome Survey (HOS) registry. …
PURPOSE: This study investigated the relationship between mucopolysaccharidosis II (MPS II) iduronate-2-sulfatase gene …
A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation.
Mashima R, Ohira M, Okuyama T, Onodera M, Takada S. Mashima R, et al. Sci Rep. 2023 May 15;13(1):7865. doi: 10.1038/s41598-023-34541-w. Sci Rep. 2023. PMID: 37188686 Free PMC article.
In contrast, 70% of MPS II is associated with a severe type of disease subtype with CNS manifestations that are caused by the human iduronate-2-sulfatase (IDS)-Pro86Leu (P86L) mutation, a common missense mutation in MPS II. ...
In contrast, 70% of MPS II is associated with a severe type of disease subtype with CNS manifestations that are caused by the human iduro …
A novel CRISPR/Cas9-based iduronate-2-sulfatase (IDS) knockout human neuronal cell line reveals earliest pathological changes.
Badenetti L, Manzoli R, Trevisan M, D'Avanzo F, Tomanin R, Moro E. Badenetti L, et al. Sci Rep. 2023 Jun 25;13(1):10289. doi: 10.1038/s41598-023-37138-5. Sci Rep. 2023. PMID: 37357221 Free PMC article.
To tackle this issue, we have generated two novel iduronate-2-sulfatase (IDS) loss of function human neuronal cell lines by means of genome editing. ...
To tackle this issue, we have generated two novel iduronate-2-sulfatase (IDS) loss of function human neuronal cell line …
Cognitive and adaptive behaviors associated with disease severity and genotype in patients with mucopolysaccharidosis II.
Yee KS, Alexanderian D, Merberg D, Natarajan M, Wang S, Wu Y, Whiteman DAH. Yee KS, et al. Mol Genet Metab. 2023 Nov;140(3):107652. doi: 10.1016/j.ymgme.2023.107652. Epub 2023 Jul 13. Mol Genet Metab. 2023. PMID: 37506513 Free article.
BACKGROUND: Mucopolysaccharidosis II (MPS II) is a rare, X-linked lysosomal storage disease caused by pathogenic variants of the iduronate-2-sulfatase gene (IDS) and is characterized by a highly variable disease spectrum. ...
BACKGROUND: Mucopolysaccharidosis II (MPS II) is a rare, X-linked lysosomal storage disease caused by pathogenic variants of the iduronat …
Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.
Zanetti A, D'Avanzo F, Tomanin R. Zanetti A, et al. Hum Genomics. 2024 Dec 2;18(1):134. doi: 10.1186/s40246-024-00701-w. Hum Genomics. 2024. PMID: 39617925 Free PMC article. Review.
PURPOSE: Mucopolysaccharidosis type II (MPS II) is a rare X-linked lysosomal storage disorder caused by genetic alterations in the iduronate 2-sulfatase (IDS) gene. A wide range of variants has been reported for different countries and ethnic groups. ...
PURPOSE: Mucopolysaccharidosis type II (MPS II) is a rare X-linked lysosomal storage disorder caused by genetic alterations in the iduron …
Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study.
Zhong L, Gao X, Wang Y, Qiu W, Han L, Gu X, Zhang H. Zhong L, et al. Clin Genet. 2023 Jun;103(6):655-662. doi: 10.1111/cge.14329. Epub 2023 Mar 22. Clin Genet. 2023. PMID: 36945845
Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal storage disease caused by a disease-associated variant in the IDS gene, which encodes iduronate 2-sulfatase (IDS). We aimed to characterize the clinical characteristics and genotypes of …
Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal storage disease caused by a disease-associated variant in the IDS …