Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Gb3, Globotriaosylceramide"'
Autor:
Hoda Safari Yazd, Sina Feizbakhsh Bazargani, Christine A. Vanbeek, Kelli King-Morris, Coy Heldermon, Mark S. Segal, Richard Yost, William L. Clapp, Timothy J. Garrett
Publikováno v:
Journal of Mass Spectrometry and Advances in the Clinical Lab, Vol 22, Iss, Pp 71-78 (2021)
Journal of Mass Spectrometry and Advances in the Clinical Lab
Journal of Mass Spectrometry and Advances in the Clinical Lab
Highlights • Fabry is an X-linked lysosomal storage disease with deficiency in α-galactosidase. • This deficiency results in the accumulation of glycosphinogolipids. • Diagnosis is often made by analysis of globotriaosylceramide in fluids and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc601d022917c183c0e3e9b796fc894b
https://doi.org/10.1016/j.jmsacl.2021.11.004
https://doi.org/10.1016/j.jmsacl.2021.11.004
Autor:
Suman Pradhan, James M. Wells, Holly M. Poling, Michael A. Helmrath, Alison A. Weiss, Sayali S. Karve, Jennifer Hawkins, Heather A. McCauley
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology
Background & Aims Shiga toxin (Stx)-producing Escherichia coli (eg, O157:H7) infection produces bloody diarrhea, while Stx inhibits protein synthesis and causes the life-threatening systemic complication of hemolytic uremic syndrome. The murine intes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28334323868c4a064ba148eeba0cc698
https://doi.org/10.1016/j.jcmgh.2020.02.006
https://doi.org/10.1016/j.jcmgh.2020.02.006
Publikováno v:
Neurobiology of Pain, Vol 10, Iss, Pp 100074-(2021)
Neurobiology of Pain
Neurobiology of Pain
Highlights • Fabry disease rats exhibit peripheral nerve pathology, specifically in sensory nerves. • Fabry disease tibial nerves exhibit different pathology according to anatomical location. • Fabry disease associated lipids and lysosomes accu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::472c6ac11811678b1436afdafecf3c60
http://www.sciencedirect.com/science/article/pii/S2452073X21000155
http://www.sciencedirect.com/science/article/pii/S2452073X21000155
Autor:
Bichet, Daniel G., Torra Balcells, Roser, Wallace, Eric, Hughes, Derralynn A, Giugliani, Roberto, Skuban, Nina, Krusinska, Eva, Feldt-Rasmussen, Ulla, Schiffmann, Raphael, Nicholls, Kathy, Universitat Autònoma de Barcelona
Publikováno v:
Mol Genet Metab Rep
Molecular Genetics and Metabolism Reports
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100786-(2021)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Bichet, D G, Torra, R, Wallace, E, Hughes, D, Giugliani, R, Skuban, N, Krusinska, E, Feldt-Rasmussen, U, Schiffmann, R & Nicholls, K 2021, ' Long-term follow-up of renal function in patients treated with migalastat for Fabry disease ', Molecular Genetics and Metabolism Reports, vol. 28, 100786 . https://doi.org/10.1016/j.ymgmr.2021.100786
Molecular Genetics and Metabolism Reports
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100786-(2021)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Bichet, D G, Torra, R, Wallace, E, Hughes, D, Giugliani, R, Skuban, N, Krusinska, E, Feldt-Rasmussen, U, Schiffmann, R & Nicholls, K 2021, ' Long-term follow-up of renal function in patients treated with migalastat for Fabry disease ', Molecular Genetics and Metabolism Reports, vol. 28, 100786 . https://doi.org/10.1016/j.ymgmr.2021.100786
The effect of migalastat on long-term renal outcomes in enzyme replacement therapy (ERT)–naive and ERT-experienced patients with Fabry disease is not well defined. An integrated posthoc analysis of the phase 3 clinical trials and open-label extensi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da0e92f74c4e093a93d4351465c646fa
https://ddd.uab.cat/record/248892
https://ddd.uab.cat/record/248892
Autor:
Keiko Akiyama, Hiroko Yanagisawa, Mohammad Arif Hossain, Chen Wu, Jun Okada, Takashi Miyajima, Yoshikatsu Eto
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 68-72 (2018)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A), leading to the progressive accumulation of glycosphingolipids. Classical hemizygous males usually present symptoms, including pain and pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e56d147221b9df5a79c5a51ce17fd4a
https://doi.org/10.1016/j.ymgmr.2017.12.004
https://doi.org/10.1016/j.ymgmr.2017.12.004
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100804-(2021)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
In Fabry disease, accumulation of glycolipids, predominantly globotriaosylceramide (Gb3), affects the kidneys, and nephropathy is one of the important disorders that influence the disease severity and prognosis of patients. Urinary Gb3 has been analy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a30060474699e826b2b4e828706560c0
https://doi.org/10.1016/j.ymgmr.2021.100804
https://doi.org/10.1016/j.ymgmr.2021.100804
Autor:
Keiko Akiyama, Chen Wu, Takashi Miyajima, Mohammad Arif Hossain, Hiroko Yanagisawa, Yoshikatsu Eto
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 20, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports, Vol 20, Iss, Pp-(2019)
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A). The clinical variability of the phenotypes of Fabry disease in females is still poorly understood. The degree of aberrant methylation of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b328ad3e53be8a94243add6b7916fe62
http://europepmc.org/articles/PMC6661284
http://europepmc.org/articles/PMC6661284
Autor:
Marcin Czerwinski, Carlo Unverzagt, Sascha Weidler, Anna Bereznicka, Anna Urbaniak, Radoslaw Kaczmarek, Jolanta Lukasiewicz, Krzysztof Mikolajczyk, Manfred Wuhrer, Mariusz Olczak, Katarzyna Szymczak-Kulus, Tao Zhang, Bartosz Bednarz, Edyta Majorczyk, Enoch Y. Park, Katarzyna Kapczyńska
Publikováno v:
The Journal of Biological Chemistry
Journal of Biological Chemistry, 296. ELSEVIER
Journal of Biological Chemistry, 296. ELSEVIER
The humanGb3/CD77 synthase, encoded by theA4GALT gene, is an unusually promiscuous glycosyltransferase. It synthesizes the Gala1 -> 4Gal linkage on two different glycosphingolipids (GSLs), producing globotriaosylceramide (Gb3, CD77, P-k) and the P1 a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::943d2aad642cc5ebcbcc8970d49eb9b0
https://doi.org/10.1016/j.jbc.2021.100299
https://doi.org/10.1016/j.jbc.2021.100299
Autor:
Hitoshi Sakuraba, Tomoko Shiga, Takahiro Tsukimura, Kanako Hirai, Yuya Tayama, Tadayasu Togawa
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100650-(2020)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Enzyme replacement therapy (ERT) for Fabry disease (deficiency of α-galactosidase A, α-Gal) with recombinant α-Gals (agalsidase alfa and agalsidase beta) is widely available and improves some of the clinical manifestations and biochemical findings
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a05bb52d893fdec34ea9260598e60c1c
https://doi.org/10.1016/j.ymgmr.2020.100650
https://doi.org/10.1016/j.ymgmr.2020.100650
Autor:
Choi, L., Vernon, J., Kopach, O., Minett, M.S., Mills, K., Clayton, P.T., Meert, T., Wood, J.N.
Publikováno v:
Neuroscience Letters
Highlights • Gb3 and Lyso-Gb3, plasma lipids accumulating in Fabry disease, cause mechanical allodynia in mice. • Lyso-Gb3 elevates intracellular calcium level in sensory neurons. • Lyso-Gb3 enhances voltage-dependent calcium currents in small-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b06b5449c754170d2d86aa3f590c8173