Results 31 to 40 of about 3,683 (169)
Screening Fabry’s disease in chronic kidney disease patients not on dialysis: a multicenter study
Renal Failure, 2017 Objectives: Fabry's disease is an X-linked inherited, rare, progressive, lysosomal storage disorder, affecting multiple organs due to the deficient activity of α-galactosidase A (α-Gal A) enzyme.
Yavuz Yeniçerioğlu +28 more
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Determination of globotriaosylceramide analogs in the organs of a mouse model of Fabry disease [PDF]
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). Recent studies have reported a structural heterogeneity of Gb3 in Fabry disease, including Gb3 isoforms with different fatty acids and Gb3 analogs with modifications on the ...
Satoshi Ishii +4 more
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Fabry disease – a multisystemic disease with gastrointestinal manifestations
Gut Microbes, 2022 Nonspecific gastrointestinal (GI) symptoms, such as postprandial cramping pain, diarrhea, nausea and vomiting are typical symptoms for irritable bowel syndrome or inflammatory bowel disease, but may also be the first symptoms of Fabry disease (FD).
Malte Lenders, Eva Brand
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Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation [PDF]
Journal of Clinical Investigation, 2000 We used a potent inhibitor of glucosylceramide synthase to test whether substrate deprivation could lower globotriaosylceramide levels in alpha-galactosidase A (alpha-gal A) knockout mice, a model of Fabry disease. C57BL/6 mice treated twice daily for 3 days with D-threo-1-ethylendioxyphenyl-2-palmitoylamino-3-pyrrolidi no-propanol (D-t-EtDO-P4) showed
A, Abe +6 more
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Journal of Lipid Research, 2010 Fabry disease is an X-linked disorder caused by mutations in the GLA gene encoding for α-galactosidase A (AGA, EC 3.2.1.22). Measurement of AGA enzyme activity using cell homogenates can easily identify men with Fabry disease, but in women, the degree of
Christine R. Kaneski +3 more
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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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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.
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Nefrología, 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.
Pablo Rodríguez Doyágüez +5 more
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Treatment of Fabry Disease: Established and Emerging Therapies
Pharmaceuticals, 2023 Fabry disease (FD) is a rare, X-linked inherited disorder of glycosphingolipid metabolism. It leads to the progressive accumulation of globotriaosylceramide within lysosomes due to a deficiency of α-galactosidase A enzyme.
Muhammad Umer, Dinesh K. Kalra
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Binding of Pk-Trisaccharide Analogs of Globotriaosylceramide to Shiga Toxin Variants [PDF]
Infection and Immunity, 2013 ABSTRACT The two major forms of Shiga toxin, Stx1 and Stx2, use the glycolipid globotriaosylceramide (Gb3) as their cellular receptor. Stx1 primarily recognizes the Pk-trisaccharide portion and has three Pk binding sites per B monomer. The Stx2a subtype requires glycolipid residues in addition to Pk.
Hailemichael O, Yosief +2 more
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