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Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease
Molecular Genetics and Metabolism, 2011Fabry disease is caused by a deficiency of α-galactosidase A (α-Gal A), which results in the accumulation of globotriaosylceramide (GL3) and related glycosphingolipids in different organs. Urinary GL3 levels increase in symptomatic Fabry disease patients, but it is not clear whether urinary GL3 excretion also increases in young or pre-symptomatic ...
Wuh-liang Hwu +2 more
exaly +3 more sources
Cellular and tissue localization of globotriaosylceramide in Fabry disease
Virchows Archiv, 2007The pathogenesis of Fabry disease is poorly understood. We used a variety of immunohistological techniques to localize globotriaosylceramide, the main glycolipid that accumulates in Fabry disease. Globotriaosylceramide immunoreactivity in a heterogenous pattern was present in all organs examined of a patient on long-term enzyme replacement therapy.
Hasan, Askari +10 more
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Comparison of detection methods for cell surface globotriaosylceramide
Journal of Immunological Methods, 2011The cell surface-expressed glycosphingolipid (GSL), globotriaosylceramide (Gb(3)), is becoming increasingly important and is widely studied in the areas of verotoxin (VT)-mediated cytotoxicity, human immunodeficiency virus (HIV) infection, immunology and cancer. However, despite its diverse roles and implications, an optimized detection method for cell
Minji, Kim +6 more
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Total synthesis of globotriaosylceramide (Gb3) and lysoglobotriaosylceramide (lysoGb3)
Carbohydrate Research, 1990We have recently reported a highly efficient and stereocontrolled synthesis of globotriaosylceramide (Gb3, 1) in optically pure form. Key to our synthetic strategy was the implementation of the two-stage activation of thioglycosides for formation of the glycosidic bonds and the utilization of (2S, 3S, 4E)-2-azido-3-O-(tert-butyldimethylsilyl)-4 ...
K C, Nicolaou +2 more
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Falsely elevated urinary Gb3 (globotriaosylceramide, CTH, GL3)
Molecular Genetics and Metabolism, 2009and C17-Gb3 as internal standards. Ten microliters are injected into a UPLC-MS/MS for the simultaneous determination of creatinine and Gb3. Urine of 100 healthy subjects from newborns to 65 years old was analyzed. The concentration of creatinine in urine varied widely due to diet or age: from less then 1 lmol/mL in infants and some adults to higher ...
Sabrina, Forni +3 more
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Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease
Heart, 2014Objective To characterise a globotriaosylceramide (Gb3) storage cardiomyopathy mimicking Fabry. Methods We investigated five patients from two unrelated families with early adult onset unexplained left ventricular hypertrophy.
Turid, Apelland +10 more
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Molecular Genetics and Metabolism, 2008
Fabry disease is a complex, multisystemic and clinically heterogeneous disease, in which the urinary excretion of globotriaosylceramide (Gb3), the principal substrate of the deficient enzyme, alpha-galactosidase A, is more prominent than the increased concentrations of the lipid in the plasma of affected hemizygotes and heterozygotes. We have developed
Christiane Auray-Blais, Tracy Stockley
exaly +3 more sources
Fabry disease is a complex, multisystemic and clinically heterogeneous disease, in which the urinary excretion of globotriaosylceramide (Gb3), the principal substrate of the deficient enzyme, alpha-galactosidase A, is more prominent than the increased concentrations of the lipid in the plasma of affected hemizygotes and heterozygotes. We have developed
Christiane Auray-Blais, Tracy Stockley
exaly +3 more sources
Chemistry and Physics of Lipids, 1990
Globotriaosylceramide, the natural substrate of alpha-galactosidase A (the enzyme deficient in Fabry's disease) was prepared from human kidney by repeated medium pressure chromatography on Lichroprep Si 60 (E. Merck) before and after peracetylation. The apparently homogeneous preparation migrating as a single band on HPTLC was analysed by fast atom ...
Günter Schwarzmann +2 more
exaly +3 more sources
Globotriaosylceramide, the natural substrate of alpha-galactosidase A (the enzyme deficient in Fabry's disease) was prepared from human kidney by repeated medium pressure chromatography on Lichroprep Si 60 (E. Merck) before and after peracetylation. The apparently homogeneous preparation migrating as a single band on HPTLC was analysed by fast atom ...
Günter Schwarzmann +2 more
exaly +3 more sources
Expression of the glycolipid globotriaosylceramide (Gb3) in testicular carcinoma in situ
Virchows Archiv, 1995Changes in the cell membrane glycolipid composition and metabolism are frequently associated with carcinogenesis. The accumulation of globo-series glycolipids is the most notable change of the germ cell glycolipid composition observed in testicular tumours.
J L, Kang +3 more
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Increased globotriaosylceramide on plasma membranes of synchronized familial dysautonomia cells
Journal of Molecular Neuroscience, 1994Familial dysautonomia is an autosomal recessive genetic disease found almost exclusively among Ashkenazi Jews, characterized by deficits in autonomic, sensory, and central functions. Although the gene has been localized to chromosome 9, the biochemical defect remains elusive.
B Boyd
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