Zobrazeno 1 - 10
of 431
pro vyhledávání: '"A. Tomanin"'
Autor:
Lorenzo Badenetti, Rosa Manzoli, Marta Trevisan, Francesca D’Avanzo, Rosella Tomanin, Enrico Moro
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Multiple complex intracellular cascades contributing to Hunter syndrome (mucopolysaccharidosis type II) pathogenesis have been recognized and documented in the past years. However, the hierarchy of early cellular abnormalities leading to irr
Externí odkaz:
https://doaj.org/article/05d0f830dfe04d41b3c77bd8c6e7b086
Akademický článek
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Akademický článek
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Autor:
Simona Sestito, Giada Rinninella, Angelica Rampazzo, Francesca D’Avanzo, Lucia Zampini, Lucia Santoro, Orazio Gabrielli, Agata Fiumara, Rita Barone, Nicola Volpi, Maurizio Scarpa, Rosella Tomanin, Daniela Concolino
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders caused by the deficit of lysosomal hydrolases involved in the degradation of glycosaminoglycans (GAGs). The course is chronic and progressive, with multisyste
Externí odkaz:
https://doaj.org/article/385edfbf75f64cfe8275dc6a89d9cb43
Autor:
Swinhoe, M.T., Menlove, H.O., de Baere, P., Lodi, D., Schwalbach, P., Rael, C.D., Root, M., Tomanin, A., Favalli, A.
Publikováno v:
In Nuclear Inst. and Methods in Physics Research, A 1 September 2021 1009
Autor:
Alessia Casamassa, Alessandra Zanetti, Daniela Ferrari, Ivan Lombardi, Gaia Galluzzi, Francesca D'Avanzo, Gabriella Cipressa, Alessia Bertozzi, Isabella Torrente, Angelo Luigi Vescovi, Rosella Tomanin, Jessica Rosati
Publikováno v:
Stem Cell Research, Vol 63, Iss , Pp 102846- (2022)
Mucopolysaccharidosis type II (Hunter Syndrome) is a rare X-linked inherited lysosomal storage disorder presenting a wide genetic heterogeneity. It is due to pathogenic variants in the IDS gene, causing the deficit of the lysosomal hydrolase iduronat
Externí odkaz:
https://doaj.org/article/483fb3cdebe74f75b501d42500821b49
Autor:
Francesca D’Avanzo, Alessandra Zanetti, Andrea Dardis, Maurizio Scarpa, Nicola Volpi, Francesco Gatto, Rosella Tomanin
Publikováno v:
Biomolecules, Vol 13, Iss 3, p 532 (2023)
Impaired glycosaminoglycans (GAGs) catabolism may lead to a cluster of rare metabolic and genetic disorders called mucopolysaccharidoses (MPSs). Each subtype is caused by the deficiency of one of the lysosomal hydrolases normally degrading GAGs. Affe
Externí odkaz:
https://doaj.org/article/870e86eaf28b42ca9091f4caa72bebc5
Autor:
Vaccaro, S., Gauld, I.C., Hu, J., De Baere, P., Peterson, J., Schwalbach, P., Smejkal, A., Tomanin, A., Sjöland, A., Tobin, S., Wiarda, D.
Publikováno v:
In Nuclear Inst. and Methods in Physics Research, A 21 April 2018 888:202-217
Publikováno v:
Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 35-45 (2018)
Abstract Mucopolysaccharidoses (MPS) are rare inherited disorders caused by a deficit of the lysosomal hydrolases involved in the degradation of mucopolysaccharides, also known as glycosaminoglycans (GAGs). They are all monogenic defects, transmitted
Externí odkaz:
https://doaj.org/article/5039a696bad7411ab0704d34085eee72
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 24, p 13456 (2021)
Mucopolysaccharidosis type VI, or Maroteaux–Lamy syndrome, is a rare, autosomal recessive genetic disease, mainly affecting the pediatric age group. The disease is due to pathogenic variants of the ARSB gene, coding for the lysosomal hydrolase N-ac
Externí odkaz:
https://doaj.org/article/ebf361bd6bb1467aa3cad32feace05dd