Neurobiology of DiseaseFabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene that reduce α-galactosidase A activity and lead to progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids.
Marco Salluzzo +13 more
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Targeting glucosylceramide synthase induction of cell surface globotriaosylceramide (Gb3) in acquired cisplatin-resistance of lung cancer and malignant pleural mesothelioma cells [PDF]
Experimental Cell Research, 2015 Acquired resistance to cisplatin treatment is a caveat when treating patients with non-small cell lung cancer (NSCLC) and malignant pleural mesothelioma (MPM). Ceramide increases in response to chemotherapy, leading to proliferation arrest and apoptosis.
Shyam Kumar Gudey +2 more
exaly +5 more sources
Epithelial-Mesenchymal Transition in Kidney Tubular Epithelial Cells Induced by Globotriaosylsphingosine and Globotriaosylceramide. [PDF]
PLoS ONE, 2015 Fabry disease is a lysosomal storage disorder caused by deficiency of alpha-galactosidase A (α-gal A), which results in the deposition of globotriaosylceramide (Gb3) in the vascular endothelium.
Yeo Jin Jeon +4 more
doaj +3 more sources
Skin Globotriaosylceramide 3 Load Is Increased in Men with Advanced Fabry Disease. [PDF]
PLoS ONE, 2016 The X-chromosomally linked life-limiting Fabry disease (FD) is associated with deposits of the sphingolipid globotriaosylceramide 3 (Gb3) in various tissues. Skin is easily accessible and may be used as an additional diagnostic and follow-up medium.
Nurcan Üçeyler +6 more
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Structural Diversities of Lectins Binding to the Glycosphingolipid Gb3
Frontiers in Molecular Biosciences, 2021 Glycolipids are present on the surfaces of all living cells and thereby represent targets for many protein receptors, such as lectins. Understanding the interactions between lectins and glycolipids is essential for investigating the functions of lectins ...
Lina Siukstaite +5 more
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Pathogenic mechanisms in Fabry disease [PDF]
Frontiers in MedicineAnderson-Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by deficient activity of the enzyme α-galactosidase A, resulting in progressive accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3), across multiple
Siming Wang, Chengyue Sun
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Nanomedicines for DNA and interference RNA co-delivery: Combined gene therapy for Fabry disease [PDF]
International Journal of Pharmaceutics: XFabry disease (FD) is a multisystemic rare disorder caused by mutations in the GLA gene encoding α-Galactosidase A (α-Gal A) enzyme. The deficiency of this enzyme leads to progressive lysosomal accumulation of glycosphingolipids, especially ...
Marina Beraza-Millor +5 more
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Unraveling A4GALT Mechanism and Its Modulation With Adamantyl-Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies. [PDF]
Angew Chem Int Ed EnglA 310‐helix‐mediated conformational switch promotes a front‐face SNi‐like catalysis by human A4GALT. Mechanism‐guided design identifies AdaGalCer as a selective modulator of globotriaosylceramide (Gb3) biosynthesis, opening a clear route toward new Fabry disease therapeutics.
de Koster N +13 more
europepmc +3 more sources
Cellular & Molecular Biology LettersHuman Gb3/CD77 synthase (α1,4-galactosyltransferase, P1/Pk synthase, UDP-galactose: β-d-galactosyl-β1-R 4-α-d-galactosyltransferase, EC 2.4.1.228) forms Galα1 → 4Gal structures on glycosphingolipids and glycoproteins.
Katarzyna Szymczak-Kulus +2 more
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Molecular, Metabolic and Inflammatory Patterns Involved in Pathogenesis of Anderson-Fabry Disease [PDF]
CellsAnderson–Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, resulting in deficient α-galactosidase A activity and progressive accumulation of globotriaosylceramide (Gb3) and its derivative lyso-Gb3
Irene Simonetta +2 more
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