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Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment
Author / Creator:D’Avanzo, Francesca ; Rigon, Laura ; Zanetti, Alessandra ; Tomanin, Rosella
Publisher:Switzerland: MDPI
Journal title:International journal of molecular sciences, 2020-02, Vol.21 (4), p.1258
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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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Oral trehalose improves histological and behavior symptoms of mucopolysaccharidosis type II in iduronate 2-sulfatase deficient mice
Author / Creator:Lee, Hyesook ; Han, Jung-Hwa ; Jeong, Roo Gam ; Kang, Yun Jeong ; Choi, Byung Hyun ; Kim, Seo Rin ; Cheon, Chong Kun ; Hur, Jin ; Lee, Soo Yong
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2025-02, Vol.15 (1), p.4882-12
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A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation
Author / Creator:Mashima, Ryuichi ; Ohira, Mari ; Okuyama, Torayuki ; Onodera, Masafumi ; Takada, Shuji
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2023-05, Vol.13 (1), p.7865-7865, Article 7865
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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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A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines
Author / Creator:Sofronova, Viktoriia ; Gurinova, Elizaveta ; Petukhova, Diana ; Fukamatsu, Hiroko ; Yamamoto, Takenobu ; Aoyama, Yumi ; Golikova, Polina ; Moskvitin, Gavril ; Ivanova, Roza ; Savvina, Mira ; Vasilev, Filipp ; Moriwaki, Takahito ; Terawaki, Seigo ; Sukhomyasova, Aitalina ; Maksimova, Nadezhda ; Otomo, Takanobu
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-03, Vol.24 (6), p.5647
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Multifaceted Approach for Quantification and Enzymatic Activity of Iduronate-2-Sulfatase to Support Developing Gene Therapy for Hunter Syndrome
Author / Creator:Franchi, Peter M. ; Kulagina, Nadia ; Ilinskaya, Anna ; Hoffpauir, Brian ; Qian, Mark G. ; Sugimoto, Hiroshi
Publisher:Cham: Springer International Publishing
Journal title:The AAPS journal, 2023-06, Vol.25 (4), p.61, Article 61
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Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants
Author / Creator:Zanetti, Alessandra ; D’Avanzo, Francesca ; Tomanin, Rosella
Publisher:England: BioMed Central
Journal title:Human genomics, 2024-12, Vol.18 (1), p.134-17, Article 134
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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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CNS Penetration of Intrathecal-Lumbar Idursulfase in the Monkey, Dog and Mouse: Implications for Neurological Outcomes of Lysosomal Storage Disorder
Author / Creator:Calias, Pericles ; Papisov, Mikhail ; Pan, Jing ; Savioli, Nancy ; Belov, Vasily ; Huang, Yan ; Lotterhand, Jason ; Alessandrini, Mary ; Liu, Nan ; Fischman, Alan J. ; Powell, Jan L. ; Heartlein, Michael W.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-01, Vol.7 (1), p.e30341
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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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Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II)
Author / Creator:Semyachkina, Alla Nikolaevna ; Voskoboeva, Elena Yurievna ; Nikolaeva, Ekaterina Alexandrovna ; Zakharova, Ekaterina Yurievna
Publisher:England: BioMed Central
Journal title:BMC medical genomics, 2021-03, Vol.14 (1), p.71-18, Article 71
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Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations
Author / Creator:Pollard, Laura M. ; Jones, Julie R. ; Wood, Tim C.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.179-187
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Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl
Author / Creator:Semyachkina, A. N. ; Voskoboeva, E. Y. ; Zakharova, E. Y. ; Nikolaeva, E. A. ; Kanivets, I. V. ; Kolotii, A. D. ; Baydakova, G. V. ; Kharabadze, M. N. ; Kuramagomedova, R. G. ; Melnikova, N. V.
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2019-05, Vol.20 (1), p.66-66, Article 66
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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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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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Showing 1 to 20 of 59 results

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Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment

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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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Oral trehalose improves histological and behavior symptoms of mucopolysaccharidosis type II in iduronate 2-sulfatase deficient mice

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A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation

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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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A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines

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Multifaceted Approach for Quantification and Enzymatic Activity of Iduronate-2-Sulfatase to Support Developing Gene Therapy for Hunter Syndrome

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Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants

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

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CNS Penetration of Intrathecal-Lumbar Idursulfase in the Monkey, Dog and Mouse: Implications for Neurological Outcomes of Lysosomal Storage Disorder

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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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Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II)

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Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations

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Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl

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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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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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