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A novel CRISPR/Cas9-based iduronate-2-sulfatase (IDS) knockout human neuronal cell line reveals earliest pathological changes
Author / Creator:Badenetti, Lorenzo ; Manzoli, Rosa ; Trevisan, Marta ; D’Avanzo, Francesca ; Tomanin, Rosella ; Moro, Enrico
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2023-06, Vol.13 (1), p.10289-10289, Article 10289
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Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data
Author / Creator:Giugliani, Roberto ; Martins, Ana Maria ; Okuyama, Torayuki ; Eto, Yoshikatsu ; Sakai, Norio ; Nakamura, Kimitoshi ; Morimoto, Hideto ; Minami, Kohtaro ; Yamamoto, Tatsuyoshi ; Yamaoka, Mariko ; Ikeda, Toshiaki ; So, Sairei ; Tanizawa, Kazunori ; Sonoda, Hiroyuki ; Schmidt, Mathias ; Sato, Yuji
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2021-10, Vol.22 (20), p.10938
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Production of active human iduronate-2-sulfatase (IDS) enzyme in Nicotiana benthamiana
Author / Creator:Sinha, Md Hasif ; Mehtab, Tahrin ; Entesari, Mehrnaz ; Nguyen, Hong Hanh ; Yun, Areum ; Hwang, Inhwan
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-10, Vol.14 (1), p.23066-14, Article 23066
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Current and Future Treatment of Mucopolysaccharidosis (MPS) Type II: Is Brain-Targeted Stem Cell Gene Therapy the Solution for This Devastating Disorder?
Author / Creator:Horgan, Claire ; Jones, Simon A. ; Bigger, Brian W. ; Wynn, Robert
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-04, Vol.23 (9), p.4854
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Characterization of Fluid Biomarkers Reveals Lysosome Dysfunction and Neurodegeneration in Neuronopathic MPS II Patients
Author / Creator:Bhalla, Akhil ; Ravi, Ritesh ; Fang, Meng ; Arguello, Annie ; Davis, Sonnet S. ; Chiu, Chi-Lu ; Blumenfeld, Jessica R. ; Nguyen, Hoang N. ; Earr, Timothy K. ; Wang, Junhua ; Astarita, Giuseppe ; Zhu, Yuda ; Fiore, Damian ; Scearce-Levie, Kimberly ; Diaz, Dolores ; Cahan, Heather ; Troyer, Matthew D. ; Harris, Jeffrey M. ; Escolar, Maria L.
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2020-07, Vol.21 (15), p.5188
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Mucopolysaccharidosis type II zebrafish model exhibits early impaired proteasomal-mediated degradation of the axon guidance receptor Dcc
Author / Creator:Manzoli, Rosa ; Badenetti, Lorenzo ; Bruzzone, Matteo ; Macario, Maria Carla ; Rubin, Michela ; Dal Maschio, Marco ; Roveri, Antonella ; Moro, Enrico
Publisher:London: Nature Publishing Group UK
Journal title:Cell death & disease, 2024-04, Vol.15 (4), p.269-11, Article 269
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In vivo brain delivery of BBB-enabled iduronate 2-sulfatase in rats
Author / Creator:Costain, Will J. ; Haqqani, Arsalan S. ; Hussack, Greg ; van Faassen, Henk ; Lessard, Etienne ; Ling, Binbing ; Brunette, Eric ; Ly, Dao ; Fang, Hung ; Bultinck, Jennyfer ; Geysens, Steven ; Pynaert, Gwenda ; Piens, Kathleen ; Ryckaert, Stefan ; Fudalej, Franck ; Vervecken, Wouter ; Stanimirovic, Danica
Publisher:England: BioMed Central Ltd
Journal title:Fluids and barriers of the CNS, 2025-01, Vol.22 (1), p.7-13, Article 7
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High-Throughput Liquid Chromatography–Tandem Mass Spectrometry Quantification of Glycosaminoglycans as Biomarkers of Mucopolysaccharidosis II
Author / Creator:Wang, Junhua ; Bhalla, Akhil ; Ullman, Julie C. ; Fang, Meng ; Ravi, Ritesh ; Arguello, Annie ; Thomsen, Elliot ; Tsogtbaatar, Buyankhishig ; Guo, Jing L. ; Skuja, Lukas L. ; Dugas, Jason C. ; Davis, Sonnet S. ; Poda, Suresh B. ; Gunasekaran, Kannan ; Costanzo, Simona ; Sweeney, Zachary K. ; Henry, Anastasia G. ; Harris, Jeffrey M. ; Henne, Kirk R. ; Astarita, Giuseppe
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2020-07, Vol.21 (15), p.5449
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A highly secreted sulphamidase engineered to cross the blood‐brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA
Author / Creator:Sorrentino, Nicolina Cristina ; D'Orsi, Luca ; Sambri, Irene ; Nusco, Edoardo ; Monaco, Ciro ; Spampanato, Carmine ; Polishchuk, Elena ; Saccone, Paola ; De Leonibus, Elvira ; Ballabio, Andrea ; Fraldi, Alessandro
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2013-05, Vol.5 (5), p.675-690
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Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II
Author / Creator:Rybová, Jitka ; Ledvinová, Jana ; Sikora, Jakub ; Kuchař, Ladislav ; Dobrovolný, Robert
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2018-03, Vol.41 (2), p.221-229
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Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome
Author / Creator:Chiong, Mary Anne D. ; Canson, Daffodil M. ; Abacan, Mary Ann R. ; Baluyot, Melissa Mae P. ; Cordero, Cynthia P. ; Silao, Catherine Lynn T.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2017-01, Vol.12 (1), p.7-7, Article 7
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Glial degeneration with oxidative damage drives neuronal demise in MPSII disease
Author / Creator:Zalfa, Cristina ; Verpelli, Chiara ; D'Avanzo, Francesca ; Tomanin, Rosella ; Vicidomini, Cinzia ; Cajola, Laura ; Manara, Renzo ; Sala, Carlo ; Scarpa, Maurizio ; Vescovi, Angelo Luigi ; De Filippis, Lidia
Publisher:London: Nature Publishing Group UK
Journal title:Cell death & disease, 2016-08, Vol.7 (8), p.e2331-e2331
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X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female
Author / Creator:Řeboun, M. ; Rybová, J. ; Dobrovolný, R. ; Včelák, J. ; Veselková, T. ; Štorkánová, G. ; Mušálková, D. ; Hřebíček, M. ; Ledvinová, J. ; Magner, M. ; Zeman, J. ; Pešková, K. ; Dvořáková, Lenka
Publisher:Czech Republic: Charles University in Prague, First Faculty of Medicine
Journal title:Folia biologica, 2016-01, Vol.62 (2), p.82-89
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Effect of donor chimerism to reduce the level of glycosaminoglycans following bone marrow transplantation in a murine model of mucopolysaccharidosis type II
Author / Creator:Yokoi, Kentaro ; Akiyama, Kazumasa ; Kaneshiro, Eiko ; Higuchi, Takashi ; Shimada, Yohta ; Kobayashi, Hiroshi ; Akiyama, Masaharu ; Otsu, Makoto ; Nakauchi, Hiromitsu ; Ohashi, Toya ; Ida, Hiroyuki
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2015-03, Vol.38 (2), p.333-340
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Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study
Author / Creator:Guillén-Navarro, Encarna ; Domingo-Jiménez, María ; Alcalde-Martín, Carlos ; Cancho-Candela, Ramón ; Couce, María ; Galán-Gómez, Enrique ; Alonso-Luengo, Olga
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2013-06, Vol.8 (1), p.92-92
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Characterization of a novel mucopolysaccharidosis type Ⅱ mouse model and recombinant AAV2/8 vector-mediated gene therapy
Author / Creator:Jung, S.C., Ewha Womans University, Seoul, Republic of Korea ; Park, E.S., Ewha Womans University, Seoul, Republic of Korea ; Choi, E.N., Ewha Womans University, Seoul, Republic of Korea ; Kim, C.H., Samsung Biomedical Research Institute, Seoul, Republic of Korea ; Kim, S.J., Sungkyunkwan University School of Medicine, Seoul, Republic of Korea ; Jin, D.K., Sungkyunkwan University School of Medicine, Seoul, Republic of Korea
Publisher:Springer: Korean Society for Molecular and Cellular Biology
Journal title:Molecules and Cells, 2010, 30(1), , pp.13-18
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A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)
Author / Creator:Voznyi, Ya. V. ; Keulemans, J. L. M. ; Diggelen, O. P.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2001-11, Vol.24 (6), p.675-680
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Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patients
Author / Creator:Clarke, Lorne Andrew ; Hemmelgarn, Harmony ; Colobong, Karen ; Thomas, Anita ; Stockler, Sylvia ; Casey, Robin ; Chan, Alicia ; Fernoff, Paul ; Mitchell, John
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2012-03, Vol.35 (2), p.355-362
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MPS II in females: molecular basis of two different cases
Author / Creator:CUDRY, STÉPHANE ; TIGAUD, ISABELLE ; FROISSART, ROSELINE ; BONNET, VÉRONIQUE ; MAIRE, IRÈNE ; BOZON, DOMINIQUE
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2000-10, Vol.37 (10), p.e29-29
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Construction of a high efficiency retroviral vector for gene therapy of Hunter's syndrome
Author / Creator:Hong, Youngtae ; Yu, Seung Shin ; Kim, Jong-Mook ; Lee, Karim ; Na, Young Soon ; Whitley, Chester B. ; Sugimoto, Yoshikazu ; Kim, Sunyoung
Publisher:Chichester, UK: John Wiley & Sons, Ltd
Journal title:The journal of gene medicine, 2003-01, Vol.5 (1), p.18-29
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Showing 1 to 20 of 23 results

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A novel CRISPR/Cas9-based iduronate-2-sulfatase (IDS) knockout human neuronal cell line reveals earliest pathological changes

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Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data

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Production of active human iduronate-2-sulfatase (IDS) enzyme in Nicotiana benthamiana

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Current and Future Treatment of Mucopolysaccharidosis (MPS) Type II: Is Brain-Targeted Stem Cell Gene Therapy the Solution for This Devastating Disorder?

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Characterization of Fluid Biomarkers Reveals Lysosome Dysfunction and Neurodegeneration in Neuronopathic MPS II Patients

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Mucopolysaccharidosis type II zebrafish model exhibits early impaired proteasomal-mediated degradation of the axon guidance receptor Dcc

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In vivo brain delivery of BBB-enabled iduronate 2-sulfatase in rats

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High-Throughput Liquid Chromatography–Tandem Mass Spectrometry Quantification of Glycosaminoglycans as Biomarkers of Mucopolysaccharidosis II

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A highly secreted sulphamidase engineered to cross the blood‐brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA

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Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II

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Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome

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Glial degeneration with oxidative damage drives neuronal demise in MPSII disease

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X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female

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Effect of donor chimerism to reduce the level of glycosaminoglycans following bone marrow transplantation in a murine model of mucopolysaccharidosis type II

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Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study

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Characterization of a novel mucopolysaccharidosis type Ⅱ mouse model and recombinant AAV2/8 vector-mediated gene therapy

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A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)

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Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patients

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MPS II in females: molecular basis of two different cases

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Construction of a high efficiency retroviral vector for gene therapy of Hunter's syndrome

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