Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model
Journal of Lipid Research, 2020 Fabry disease is caused by deficient activity of α-galactosidase A, an enzyme that hydrolyzes the terminal α-galactosyl moieties from glycolipids and glycoproteins, and subsequent accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3 ...
Siamak Jabbarzadeh-Tabrizi +6 more
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Ileocecal appendix involvement in fabry disease mimicking an acute abdomen [PDF]
, 2014 Anderson-Fabry disease (AFD) is a rare, X-linked, lysosomal storage disorder due to a deficiency of alphagalactosidase A. The direct consequence is a lipid storage with the accumulation of glycosphingolipids throughout the body.
Cristi E +5 more
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Determination of globotriaosylceramide analogs in the organs of a mouse model of Fabry disease
Journal of Biological Chemistry, 2020 Fabry disease is a heritable lipid disorder caused by the low activity of α-galactosidase A and characterized by the systemic accumulation of globotriaosylceramide (Gb3).
S. Ishii +4 more
semanticscholar +1 more source
Retrograde transport pathways utilised by viruses and protein toxins [PDF]
, 2006 A model has been presented for retrograde transport of certain toxins and viruses from the cell surface to the ER that suggests an obligatory interaction with a glycolipid receptor at the cell surface. Here we review studies on the ER trafficking cholera
Easton, A. J. (Andrew J.) +4 more
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Porcine intestinal glycosphingolipids recognized by F6-fimbriated enterotoxigenic Escherichia coli [PDF]
, 2014 One important virulence factor of enterotoxigenic Escherichia coli is their ability to adhere via fimbrial adhesins to specific receptors located on the intestinal mucosa. Here, the potential glycosphingolipid receptors of enterotoxigenic F6-fimbriated E.
Benktander, John +4 more
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An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy. [PDF]
, 2016 BackgroundFollowing a drug manufacturing process change, safety/efficacy of agalsidase alfa were evaluated in enzyme replacement therapy (ERT)-naïve children with Fabry disease.MethodsIn an open-label, multicenter, Phase II study (HGT-REP-084; Shire), 14
Chang, Peter +7 more
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Globotriaosylceramide Induces Endothelial Dysfunction in Fabry Disease [PDF]
Arteriosclerosis, Thrombosis, and Vascular Biology, 2014 The endothelium critically regulates the contractile status of the vascular smooth muscle cells.1 Dysfunction of endothelial cells (ECs) induces the increased expression of adhesion molecules for inflammatory cells.2 Inflammatory cell migration and vascular inflammation generate an oxidizing environment.
openaire +2 more sources
Shiga Toxin—A Model for Glycolipid-Dependent and Lectin-Driven Endocytosis
Toxins, 2017 The cellular entry of the bacterial Shiga toxin and the related verotoxins has been scrutinized in quite some detail. This is due to their importance as a threat to human health.
Ludger Johannes
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Lentivector Transduction Improves Outcomes Over Transplantation of Human HSCs Alone in NOD/SCID/Fabry Mice [PDF]
, 2012 Fabry disease is a lysosomal storage disorder caused by a deficiency of a-galactosidase A (a-gal A) activity that results in progressive globotriaosylceramide (Gb(3)) deposition.
Au, Bryan C. Y. +7 more
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