Results 131 to 140 of about 3,638 (152)

Increased globotriaosylceramide in familial dysautonomia

Lipids, 1992
AbstractFamilial Dysautonomia (FD) is an autosomal recessive disease of unknown etiology, occurring primarily in Ashkenazi Jews. Patients are neurologically impaired, with deficits primarily in autonomic and sensory functions. The biochemical and genetic defects have remained elusive, precluding carrier detection and prenatal diagnosis.
P, Strasberg, H, Yeger, I, Warren
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Comparison of detection methods for cell surface globotriaosylceramide

Journal of Immunological Methods, 2011
The 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, Beth, Binnington, Darinka, Sakac, Kimberly R, Fernandes, Sheryl P, Shi, Clifford A, Lingwood, Donald R, Branch   +6 more
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Cellular and tissue localization of globotriaosylceramide in Fabry disease

Virchows Archiv, 2007
The 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, Christine R, Kaneski, Cristina, Semino-Mora, Priya, Desai, Agnes, Ang, David E, Kleiner, Lorah T, Perlee, Martha, Quezado, Linda E, Spollen, Brandon A, Wustman, Raphael, Schiffmann   +10 more
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Total synthesis of globotriaosylceramide (Gb3) and lysoglobotriaosylceramide (lysoGb3)

Carbohydrate Research, 1990
We 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, T J, Caulfield, H, Katoaka   +2 more
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Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease

Heart, 2014
Objective 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, Einar, Gude, Erik H, Strøm, Lars, Gullestad, Kristin L, Eiklid, Jan-Eric, Månsson, Finn P, Reinholt, Gunnar, Houge, Christen P, Dahl, Vibeke M, Almaas, Arvid, Heiberg   +10 more
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Falsely elevated urinary Gb3 (globotriaosylceramide, CTH, GL3)

Molecular Genetics and Metabolism, 2009
and 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, Xiaowei, Fu, Raphael, Schiffmann, Lawrence, Sweetman   +3 more
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Is globotriaosylceramide a useful biomarker in Fabry disease?

Acta Paediatrica, 2005
Abstract Aim: The aim of this study was to determine whether globotriaosylceramide (Gb3) is a useful biomarker in Fabry disease. Methods: The levels of Gb3 were measured in plasma and urine by tandem mass spectrometry in untreated hemizygotes and heterozygotes with Fabry disease and in healthy controls, and the levels were monitored in patients on ...
E, Young, K, Mills, P, Morris, A, Vellodi, P, Lee, S, Waldek, B, Winchester   +6 more
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Expression of the glycolipid globotriaosylceramide (Gb3) in testicular carcinoma in situ

Virchows Archiv, 1995
Changes 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, E, Rajpert-De Meyts, J, Wiels, N E, Skakkebaek   +3 more
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Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease

Molecular Genetics and Metabolism, 2011
Fabry 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 ...
Yin-Hsiu, Chien, Petra, Olivova, Xiaokui Kate, Zhang, Shu-Chuan, Chiang, Ni-Chung, Lee, Joan, Keutzer, Wuh-Liang, Hwu   +6 more
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Globotriaosylceramide inhibits iNKT‐cell activation in a CD1d‐dependent manner

European Journal of Immunology, 2015
Globotriaosylceramide (Gb3) is a glycosphingolipid present in cellular membranes that progressively accumulates in Fabry disease. Invariant Natural Killer T (iNKT) cells are a population of lipid‐specific T cells that are phenotypically and functionally altered in Fabry disease.
Pereira, C. S., Sa-Miranda, C., De Libero, G., Mori, L., Macedo, M. F.   +4 more
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