Zobrazeno 1 - 10
of 80
pro vyhledávání: '"iduronate 2-sulfatase"'
Publikováno v:
JIMD Reports, Vol 63, Iss 5, Pp 475-483 (2022)
Abstract Mucopolysaccharidoses (MPSs) are a group of genetic alterations whose effect is the progressive intralysosomal accumulation of glycosaminoglycans. Affected individuals are deficient in one or more lysosomal enzymes which, depending on the MP
Externí odkaz:
https://doaj.org/article/3b560e6456354b84a10103c99b5cabd5
Autor:
Maria Fuller, David Ketteridge
Publikováno v:
JIMD Reports, Vol 60, Iss 1, Pp 10-14 (2021)
Abstract Mucopolysaccharidosis type II (MPS II) is a multi‐systemic disorder arising due to pathogenic variants in the gene located on chromosome Xq28 encoding the lysosomal enzyme, iduronate 2‐sulfatase (IDS). The broad clinical heterogeneity of
Externí odkaz:
https://doaj.org/article/b371d7866d7b47219ae3aeb7473698ce
Autor:
A. N. Semyachkina, E. Y. Voskoboeva, E. Y. Zakharova, E. A. Nikolaeva, I. V. Kanivets, A. D. Kolotii, G. V. Baydakova, M. N. Kharabadze, R. G. Kuramagomedova, N. V. Melnikova
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)
Abstract Background Hunter syndrome (mucopolysaccharidosis type II) is a recessive X-linked disorder due to mutations in the iduronate 2-sulfatase (IDS) gene. The IDS gene encodes a lysosomal enzyme, iduronate 2-sulfatase. The disease occurs almost e
Externí odkaz:
https://doaj.org/article/1a8b6ef112084eeaba81b414a6ac1563
Akademický článek
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Kniha
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Autor:
Vincenza, Gragnaniello, Silvia, Carraro, Laura, Rubert, Daniela, Gueraldi, Chiara, Cazzorla, Pamela, Massa, Stefania, Zanconato, Alberto B, Burlina
Publikováno v:
Molecular Genetics and Metabolism Reports. 31:100878
Mucopolysaccharidosis type II (MPS II) is a multisystemic lysosomal storage disorder caused by deficiency of the iduronate 2-sulfatase enzyme. Currently, enzyme replacement therapy (ERT) with recombinant idursulfase is the main treatment available to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e066b2465be491cbaa9c2d84313fecd2
https://doi.org/10.1016/j.ymgmr.2022.100878
https://doi.org/10.1016/j.ymgmr.2022.100878
Publikováno v:
Acta Pharmaceutica Sinica. B
Acta Pharmaceutica Sinica B, Vol 10, Iss 8, Pp 1347-1359 (2020)
Acta Pharmaceutica Sinica B, Vol 10, Iss 8, Pp 1347-1359 (2020)
Gene therapy is rapidly emerging as a powerful therapeutic strategy for a wide range of neurodegenerative disorders, including Alzheimer's disease (AD), Parkinson's disease (PD) and Huntington's disease (HD). Some early clinical trials have failed to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b140cd71516f9b1622ac1023338efec
https://doi.org/10.1016/j.apsb.2020.01.015
https://doi.org/10.1016/j.apsb.2020.01.015
Autor:
Francesca Maccari, Laura Rigon, Veronica Mantovani, Fabio Galeotti, Marika Salvalaio, Francesca D’Avanzo, Alessandra Zanetti, Federica Capitani, Orazio Gabrielli, Rosella Tomanin, Nicola Volpi
Abstract Mucopolysaccharidosis type II (MPS II) is a neurometabolic disorder, due to the deficit of the lysosomal hydrolase iduronate 2-sulfatase (IDS). This leads to a severe clinical condition caused by a multi-organ accumulation of the glycosamino
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a54517bb2a52d9c9302dfb770f7a8a3b
https://hdl.handle.net/11380/1287532
https://hdl.handle.net/11380/1287532
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
David Ketteridge, Maria Fuller
Publikováno v:
JIMD Reports
JIMD Reports, Vol 60, Iss 1, Pp 10-14 (2021)
JIMD Reports, Vol 60, Iss 1, Pp 10-14 (2021)
Mucopolysaccharidosis type II (MPS II) is a multi‐systemic disorder arising due to pathogenic variants in the gene located on chromosome Xq28 encoding the lysosomal enzyme, iduronate 2‐sulfatase (IDS). The broad clinical heterogeneity of MPS II c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d366e268fb17c47979ecd294d745a032
https://doi.org/10.1002/jmd2.12214
https://doi.org/10.1002/jmd2.12214