RIPK3 Contributes to Lyso-Gb3-Induced Podocyte Death [PDF]
Cells, 2021 Fabry disease is a lysosomal storage disease with an X-linked heritage caused by absent or decreased activity of lysosomal enzymes named alpha-galactosidase A (α-gal A).
Jong-Seok Moon +2 more
exaly +7 more sources
A Rapid and Simple UHPLC-MS/MS Method for Quantification of Plasma Globotriaosylsphingosine (lyso-Gb3) [PDF]
Molecules, 2021 Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A gene (GLA) mutations, resulting in loss of activity of the lysosomal hydrolase, α-galactosidase A (α-Gal A).
Manuela Contin +2 more
exaly +7 more sources
Cellular Lyso-Gb3 Is a Biomarker for Mucolipidosis II [PDF]
International Journal of Molecular SciencesLysosomal 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.
Seigo Terawaki +2 more
exaly +4 more sources
Lyso-Gb3 Increases αvβ3 Integrin Gene Expression in Cultured Human Podocytes in Fabry Nephropathy [PDF]
Journal of Clinical Medicine, 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.
Maria Dolores Sanchez-Niño +2 more
exaly +5 more sources
One-step synthesis of carbon-13-labeled globotriaosylsphingosine (lyso-Gb3), an internal standard for biomarker analysis of Fabry disease [PDF]
Molecular Genetics and Metabolism, 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 ...
Michael Gelb
exaly +5 more sources
Elucidating the toxic effect and disease mechanisms associated with Lyso-Gb3 in Fabry disease. [PDF]
Hum Mol Genet, 2023 Abstract Fabry disease stems from a deficiency of alpha-galactosidase and results in the accumulation of globotriaosylceramide (Gb3). However, the production of its deacylated form globotriaosylsphingosine (lyso-Gb3) is also observed and its plasma levels have closer association with disease severity.
Nikolaenko V +3 more
europepmc +4 more sources
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease. [PDF]
J Med Genet, 2022 Background Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the α-galactosidase A gene (GLA) leading to deficiency of α-galactosidase A and ultimately in progressive glycosphingolipid accumulation, especially globotriaosylceramide (Gb3) and its deacylated derivative ...
Nowak A +4 more
europepmc +5 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 +6 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 +3 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 +5 more sources