Zobrazeno 1 - 10
of 2 052
pro vyhledávání: '"Globotriaosylceramide"'
Autor:
Alessandro Furia, Raffaello Ditaranto, Elena Biagini, Vanda Parisi, Alex Incensi, Sara Parisini, Rocco Liguori, Vincenzo Donadio
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-5 (2024)
Abstract Background Fabry disease is a multisystemic disorder characterized by deposition of globotriaosylceramide (Gb3) and its deacylated form in multiple organs, sometimes localized in specific systems such as the nervous or cardiovascular system.
Externí odkaz:
https://doaj.org/article/3d04e2c9565448a3adf228532aa4bf2c
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101118- (2024)
Enzyme replacement therapy (ERT) with recombinant human α-galactosidase A (α-Gal A) drugs (agalsidases) has been successfully used for treatment of Fabry disease, and three kinds of agalsidases are now available in Japan. To compare the biochemical
Externí odkaz:
https://doaj.org/article/674cb07d3b214bc1942ac795d8d65842
Akademický článek
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Autor:
Pablo Rodríguez Doyágüez, Mónica Furlano, Elisabet Ars Criach, Yolanda Arce, Lluís Guirado, Roser Torra Balcells
Publikováno v:
Nefrología, Vol 43, Iss , Pp 90-94 (2023)
Resumen: La enfermedad de Fabry o también llamada de Anderson-Fabry (EF) es una enfermedad rara, causada por variantes patogénicas en el gen GLA, localizado en el cromosoma X. Este gen interviene en el metabolismo de los glucoesfingolípidos y vari
Externí odkaz:
https://doaj.org/article/65b8e8cd9e37448da518e9825295d59d
Autor:
Maximilian Breyer, Julia Grüner, Alexandra Klein, Laura Finke, Katharina Klug, Markus Sauer, Nurcan Üçeyler
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101029- (2024)
Fabry disease (FD) is a life-limiting disorder characterized by intracellular globotriaosylceramide (Gb3) accumulations. The underlying α-galactosidase A (α-GAL A) deficiency is caused by variants in the gene GLA. Variants of unknown significance (
Externí odkaz:
https://doaj.org/article/ee8b7e44a59e4f1b809d4e26d9ad3eb2
Autor:
Mulan Deng, Hongyu Zhou, Shaomei He, Haoheng Qiu, Yanping Wang, April Yuanyi Zhao, Yunping Mu, Fanghong Li, Allan Zijian Zhao
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
Abstract Background Fabry disease (FD) is a progressive multisystemic disease characterized by a lysosomal enzyme deficiency. A lack of α-galactosidase A (α-Gal A) activity results in the progressive systemic accumulation of its substrates, includi
Externí odkaz:
https://doaj.org/article/db59864a565d4f54ad60dc9bf0bd89de
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
Assel Issabekova, Olga Mashkunova
Publikováno v:
Ķazaķstannyṇ Klinikalyķ Medicinasy, Vol 20, Iss 4, Pp 68-70 (2023)
Fabry disease is an orphan lysosomal storage disease characterized by progressive organ damage. Considering that the disease is rare, the low awareness of doctors about this pathology leads to late diagnosis of the disease and untimely pathogenetic t
Externí odkaz:
https://doaj.org/article/c52afb357dde4654ab8dab252c02241e
Autor:
Francesca Rosato, Rajeev Pasupuleti, Jana Tomisch, Ana Valeria Meléndez, Dajana Kolanovic, Olga N. Makshakova, Birgit Wiltschi, Winfried Römer
Publikováno v:
Journal of Translational Medicine, Vol 20, Iss 1, Pp 1-26 (2022)
Abstract Background Aberrant glycosylation patterns play a crucial role in the development of cancer cells as they promote tumor growth and aggressiveness. Lectins recognize carbohydrate antigens attached to proteins and lipids on cell surfaces and r
Externí odkaz:
https://doaj.org/article/585c28734c1647a7bb3fc5ca436b7ed3
Autor:
Navarro-Palomares E, García-Hevia L, Galán-Vidal J, Gandarillas A, García-Reija F, Sánchez-Iglesias A, Liz-Marzán LM, Valiente R, Fanarraga ML
Publikováno v:
International Journal of Nanomedicine, Vol Volume 17, Pp 5747-5760 (2022)
Elena Navarro-Palomares,1 Lorena García-Hevia,1 Jesús Galán-Vidal,2 Alberto Gandarillas,2 Fe García-Reija,3 Ana Sánchez-Iglesias,4,5 Luis M Liz-Marzán,4,5 Rafael Valiente,1,6 Mónica L Fanarraga1 1The Nanomedicine Group, Valdecilla Health Resea
Externí odkaz:
https://doaj.org/article/2766f0960c1548f2b5a1168ec5f90e1d