A Liquid Chromatography-Quadrupole-Time-of-Flight Mass Spectrometric Assay for the Quantification of Fabry Disease Biomarker Globotriaosylceramide (GB3) in Fabry Model Mouse [PDF]
Pharmaceutics, 2018 Fabry disease is a rare lysosomal storage disorder resulting from the lack of α-Gal A gene activity. Globotriaosylceramide (GB3, ceramide trihexoside) is a novel endogenous biomarker which predicts the incidence of Fabry disease. At the early stage
Byeong Ill Lee +2 more
exaly +7 more sources
Globotriaosylceramide Gb3 Influences Wound Healing and Scar Formation by Orchestrating Fibroblast Heterogeneity [PDF]
Advanced ScienceCutaneous fibroblast heterogeneity is mechanistically linked to wound repair outcomes and fibrotic progression, with glycosphingolipid metabolism emerging as a critical determinant of physiological fibroblast diversity.
Sujie Xie +13 more
doaj +4 more sources
Verotoxin-1 Treatment or Manipulation of its Receptor Globotriaosylceramide (Gb3) for Reversal of Multidrug Resistance to Cancer Chemotherapy [PDF]
Toxins, 2010 A major problem with anti-cancer drug treatment is the development of acquired multidrug resistance (MDR) of the tumor cells. Verotoxin-1 (VT-1) exerts its cytotoxicity by targeting the globotriaosylceramide membrane receptor (Gb3), a glycolipid ...
Kjell Grankvist +2 more
exaly +6 more sources
Spontaneous Accumulation of Globotriaosylceramide (Gb3) in Proximal Renal Tubules in an ICR Mouse [PDF]
Journal of Toxicologic Pathology, 2013 This report describes spontaneous cytoplasmic vacuolation in the proximal renal tubules of a 7-week-old male ICR [Crlj:CD1(ICR)] mouse. The contents of vacuoles were positively stained with periodic acid-Schiff (PAS) and Sudan black, and the membranes were positive on immunohistochemical staining for lysosomal-associated membrane protein-2 (LAMP-2), a ...
Tomoya Miyoshi +2 more
exaly +5 more sources
BMB Reports, 2009 Globotriaosylceramide (Gb3) and globotetraosylceramide (Gb4) are the proposed functional receptors for Shiga toxin (Stx). To elucidate the effect of Gb3 content on Stx-induced cytotoxicity in HeLa cells, we cloned HeLa cells and determined the correlation between glycolipids content and Stx-induced cytotoxicity. The 29 HeLa cell clone (HLCC) lines used
Satoshi Ishii
exaly +4 more sources
Automated quantification of skin Gb3 load and white matter lesion assessment in Fabry disease [PDF]
Orphanet Journal of Rare DiseasesBackground Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by cellular accumulation of globotriaosylceramide (Gb3). Methods We investigated dermal Gb3 load as a potential surrogate marker for systemic FD manifestations by ...
Catharina Pfister +10 more
doaj +2 more sources
Historical Control Analysis Demonstrates Greater Long-Term Reduction in Plasma Globotriaosylceramide (Gb3) by Venglustat Compared With Placebo or Agalsidase Beta in Male Patients With Classic Fabry Disease. [PDF]
Mol Genet Genomic MedABSTRACT Purpose To evaluate the disease biomarker response of venglustat in patients with Fabry disease (FD), utilizing data from a single‐arm phase 2 study of venglustat and a placebo‐controlled phase 3 study of agalsidase beta through historical control and case‐matched analyses.
Germain DP +6 more
europepmc +5 more sources
Clinica Chimica Acta, 2018 Fabry disease (FD) is a disorder that results from mutations of hydrolase α-galactosidase A. The enzymatic defect leads to accumulation of globotriaosylceramide (Gb3) in the kidney. Substrate deposition is related to tissue damage in FD, but the relation of urinary Gb3 levels in patients and the renal function markers remain not completely understood ...
Marion Deon +2 more
exaly +3 more sources
Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients [PDF]
Genetics in Medicine, 2019 Evaluation standards and treatment initiation timing have been debated for a long time, particularly for late-onset Fabry disease (FD), because of its slow progression. However, early initiation of enzyme replacement therapy (ERT) for FD could be effective in stabilizing the disease progression and potentially preventing irreversible organ damage.
Sheng-Che “Alex” Hung +2 more
exaly +3 more sources
ECG parameters to detect cardiac involvement in Fabry disease [PDF]
BMC Cardiovascular DisordersBackground Cardiac involvement of the disease is a leading cause of death and disability in Fabry disease characterized by pathological accumulation of globotriaosylceramide (Gb3) and lyso-globotriaosylceramide (lyso-Gb3) in multiple organs.
Yu Wang +11 more
doaj +2 more sources