Lyso-Gb3 Increases αvβ3 Integrin Gene Expression in Cultured Human Podocytes in Fabry Nephropathy. [PDF]
J Clin Med, 2020 Background: Podocyturia in Fabry nephropathy leads to glomerulosclerosis and kidney disease progression. Integrins are involved in podocyte attachment to the glomerular basement membrane. We hypothesized that in Fabry nephropathy, lyso-Gb3 could modulate αvβ3 expression in podocytes.
Trimarchi H, Ortiz A, Sánchez-Niño MD.
europepmc +6 more sources
Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry Variant. [PDF]
JIMD Rep, 2019 Fabry disease (FD), an X-linked lysosomal storage disease, results from an α-galactosidase A deficiency and altered sphingolipid metabolism. An accumulation of globotriaosylsphingosine (lyso-Gb3) likely triggers the pathological cascade leading to disease phenotype.
Talbot A, Nicholls K.
europepmc +7 more sources
Lyso-Gb3 modulates the gut microbiota and decreases butyrate production. [PDF]
Sci Rep, 2019 AbstractFabry disease is a rare X-linked lysosomal storage disorder resulting from deficient activity of α-galactosidase A, leading to the accumulation of glycosphingolipids such as globotriaosylsphingosine (lyso-Gb3). The gastrointestinal symptoms of this disease may be disabling, and the life expectancy of affected patients is shortened by kidney and
Aguilera-Correa JJ +7 more
europepmc +7 more sources
Publisher Correction: Lyso-Gb3 modulates the gut microbiota and decreases butyrate production. [PDF]
Sci Rep, 2020 An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Aguilera-Correa JJ +7 more
europepmc +4 more sources
Cellular Lyso-Gb3 Is a Biomarker for Mucolipidosis II. [PDF]
Int J Mol SciLysosomal storage diseases are caused by defective lysosomal function, such as impaired lysosomal enzyme activities, which include more than 70 different diseases. Although biomarkers and therapies have been developed to date for some of them, many others remain challenging to diagnose and treat.
Terawaki S +4 more
europepmc +4 more sources
One-step synthesis of carbon-13-labeled globotriaosylsphingosine (lyso-Gb3), an internal standard for biomarker analysis of Fabry disease. [PDF]
Mol Genet Metab, 2018 Globotriaosylsphingosine (lyso-Gb3) is a well-established biomarker for diagnosis and prognosis of Fabry disease. This biomarker is measured in biological samples by liquid chromatography-tandem mass spectrometry using an internal standard. The ideal internal standard is a variant of lyso-Gb3 substituted with heavy isotopes, but the total synthesis of ...
Hong X, Gelb MH.
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Correction: Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis. [PDF]
Genet Med, 2019 Maruyama H +30 more
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Fabry disease in the haemodialysis population: outcome of a UK screening study (SoFAH) [PDF]
BMC NephrologyBackground and hypothesis Fabry disease (FD) is an X-linked inherited disorder with an estimated prevalence among the end-stage kidney disease (ESKD) population of 0.3% in men and 0.1% in women [1].
K.P. Ng +13 more
doaj +2 more sources
Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease. [PDF]
Genet Med, 2021 Bichet DG +7 more
europepmc +3 more sources
Plasma lyso-Gb3: a biomarker for monitoring fabry patients during enzyme replacement therapy [PDF]
Clinical and Experimental Nephrology, 2017 Recently, globotriaosylsphingosine (lyso-Gb3) has attracted interest as a biomarker of Fabry disease. However, little is known regarding its utility for the evaluation of the therapeutic efficacy.We measured plasma lyso-Gb3 concentration in Japanese healthy subjects and Fabry patients by means of liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Hitoshi Sakuraba +3 more
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