Results 131 to 140 of about 957 (152)

A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease

Molecular Genetics and Metabolism, 2017
Fabry disease (FD) results from impaired globotriaosylceramide (Gb3) catabolism, due to a deficiency of the lysosomal hydrolase, α-galactosidase A (α-GalA). As a direct consequence, the deacetylated derivative, globotriaosylsphingosine (lyso-Gb3), is produced and contemporary evidence exemplifies its use as a biomarker.
Maria Fuller, Kathy Nicholls, Andrew Talbot   +2 more
exaly   +3 more sources

Globotriaosylsphingosine induces oxidative DNA damage in cultured kidney cells

Nephrology, 2017
AbstractFabry disease (FD) is a lysosomal disorder caused by mutations leading to a deficient activity α‐galactosidase A with progressive and systemic accumulation of its substrates. Substrates deposition is related to tissue damage in FD, but the underlying molecular mechanisms remain not completely understood.
Franciele Faccio Busatto, Roberto Giugliani, Carmen Regla Vargas   +2 more
exaly   +3 more sources

Vascular Aspects of Fabry Disease in Relation to Clinical Manifestations and Elevations in Plasma Globotriaosylsphingosine [PDF]

Hypertension, 2012
Fabry disease is an X-linked hereditary lysosomal storage disorder attributed to a deficiency of α-galactosidase A leading to increased plasma levels of globotriaosylsphingosine (lysoGb3). The disease presents as a vascular disease, with cerebral, cardiac, and renal complications.
Johannes Aerts, Carla Hollak
exaly   +4 more sources

Mutant α-galactosidase A with M296I does not cause elevation of the plasma globotriaosylsphingosine level

Molecular Genetics and Metabolism, 2012
Recently, plasma globotriaosylsphingosine (lyso-Gb3) has attracted attention as a biomarker of Fabry disease. However, we found a subset of Fabry disease patients who did not show any increase in the plasma lyso-Gb3 concentration, although other patients exhibited apparent enhancement of it. This subset predominantly exhibited the clinical phenotype of
Eisei Noiri, Makoto Yoshino, Kazuki Ohno   +2 more
exaly   +3 more sources

Combined analysis of plasma or serum glucosylsphingosine and globotriaosylsphingosine by UPLC-MS/MS

Clinica Chimica Acta, 2020
To develop a method for the combined analysis of plasma and serum glucosylsphingosine (lyso-Gb1) and globotriaosylsphingosine (lyso-Gb3), biomarkers of Gaucher disease (GD) and Fabry disease (FD), respectively.Internal standards were added to 100 µL of plasma/serum and glycosphingolipids: lyso-Gb1, lyso-Gb3, and galactosylsphingosine (GalSph) were ...
James, Beasley, Patricia, McCaw, Haoyue, Zhang, Sarah P, Young, Ashlee R, Stiles   +4 more
openaire   +2 more sources

Urinary Globotriaosylsphingosine-Related Biomarkers for Fabry Disease Targeted by Metabolomics

Analytical Chemistry, 2012
Fabry disease is a lysosomal storage disorder caused by deficiency of α-galactosidase A, resulting in glycosphingolipid accumulation in organs and tissues, including plasma and urine. Two disease-specific Fabry biomarkers have been identified and quantified in plasma and urine: globotriaosylceramide (Gb(3)) and globotriaosylsphingosine (lyso-Gb(3 ...
Christiane, Auray-Blais, Michel, Boutin, René, Gagnon, Félix O, Dupont, Pamela, Lavoie, Joe T R, Clarke   +5 more
openaire   +2 more sources

Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2011
Fabry disease is treated by two-weekly infusions with α-galactosidase A, which is deficient in this X-linked globotriaosylceramide (Gb3) storage disorder. Elevated plasma globotriaosylsphingosine (lysoGb3) is a hallmark of classical Fabry disease.
Johannes Aerts, Christoph Wanner, Aeilko H Zwinderman   +2 more
exaly   +5 more sources

Tissue and plasma globotriaosylsphingosine could be a biomarker for assessing enzyme replacement therapy for Fabry disease

Biochemical and Biophysical Research Communications, 2010
Fabry disease is a genetic disease caused by a deficiency of alpha-galactosidase A (GLA), which leads to systemic accumulation of glycolipids, predominantly globotriaosylceramide (Gb3). With the introduction and spread of enzyme replacement therapy (ERT) with recombinant GLAs for this disease, a useful biomarker for assessing the response to ERT is ...
Takuro Kanekura, Tadayasu Togawa, Takahiro Tsukimura   +2 more
exaly   +3 more sources

Globotriaosylsphingosine (Lyso‐Gb₃) as a biomarker for cardiac variant (N215S) Fabry disease

Journal of Inherited Metabolic Disease, 2018
AbstractFabry disease (FD) is a multi‐systemic X‐linked lysosomal disorder caused by the deficient activity of α‐galactosidase‐A enzyme, which leads to accumulation of glycosphingolipids in various body tissues. The N215S mutation is a known variant of FD, with a late onset cardiac phenotype.
Fahad J. Alharbi, Shanat Baig, Christiane Auray‐Blais, Michel Boutin, Douglas G. Ward, Nigel Wheeldon, Rick Steed, Charlotte Dawson, Derralynn Hughes, Tarekegn Geberhiwot   +9 more
openaire   +2 more sources

The clinical utility of total concentration of urinary globotriaosylsphingosine plus its analogues in the diagnosis of Fabry disease

Clinica Chimica Acta, 2020
Fabry disease (FD) is a genetic disorder caused by defective α-galactosidase-A enzyme due to mutations in the GLA gene. A reliable diagnosis in classical FD males can be made by measuring the enzyme activity while diagnosing classical FD females and non-classical FD patients requires mutation analysis.
Fahad J, Alharbi, Shanat, Baig, Srinivasa B, Rambhatla, Ravi, Vijapurapu, Christiane, Auray-Blais, Michel, Boutin, Richard, Steeds, Nigel, Wheeldon, Charlotte, Dawson, Tarekegn, Geberhiwot   +9 more
openaire   +2 more sources