Results 231 to 240 of about 7,739 (261)

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
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl‐d ₃₅ ‐globotriaosylceramide as internal standard

Rapid Communications in Mass Spectrometry, 2005
Abstract Globotriaosylceramide is a neutral glycolipid containing the trihexoside Gal( α 1‐4)Gal( ß 1‐4)Glc( ß 1‐1′) covalently bound to N‐acylsphingosine.
Guenter, Fauler, Gerald N, Rechberger, Danijela, Devrnja, Wolfgang, Erwa, Barbara, Plecko, Peter, Kotanko, Frank, Breunig, Eduard, Paschke   +7 more
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

Rapid synthesis of oligosaccharide moieties of globotriaosylceramide using fluorous protective group

Tetrahedron Letters, 2003
Abstract The use of the Bfp (bisfluorous chain type propanoyl) group as a fluorous protective group made it possible to rapidly synthesize galabiose and the Gb3 oligosaccharide derivatives by a simple fluorous–organic extraction purification. The fluorous oligosaccharide synthesis using the Bfp group is an excellent strategic alternative to solid ...
Tsuyoshi Miura, Toshiyuki Inazu
openaire   +1 more source

Altered globotriaosylceramide accumulation and mucosal neuronal fiber density in the colon of the Fabry disease mouse model

Neurogastroenterology and Motility, 2019
Fabry disease (FD) is a hereditary X‐linked metabolic storage disorder characterized by deficient or absent lysosomal α‐galactosidase A (α‐Gal A) activity.
M. Masotti, C. Delprete, Giovanni Dothel, V. Donadio, R. Rimondini, J. Politei, R. Liguori, M. Caprini   +7 more
semanticscholar   +1 more source