Results 21 to 30 of about 1,210 (148)
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
Evaluation of GLA variants detected in newborn screening for Fabry disease using biomarker analysis [PDF]
Molecular Genetics and Metabolism ReportsFabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, resulting in deficient or dysfunctional α-galactosidase A (AGAL) activity. Newborn screening (NBS) enables early detection and management; however,
Takaaki Sawada +11 more
doaj +2 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 +2 more sources
Clinical and Translational MedicineBackground Fabry disease is an X‐linked lysosomal storage disorder due to a deficiency of α‐galactosidase A (α‐gal A) activity. Our goal was to correct the enzyme deficiency in Fabry patients by transferring the cDNA for α‐gal A into their CD34 ...
Aneal Khan +11 more
doaj +2 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
Molecular Genetics and Metabolism Reports, 2023 Fabry disease (FD) is an inherited disease caused by deficient α-galactosidase A activity that is characterized by the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3).
Atsumi Taguchi +3 more
doaj +1 more source
Lyso-Gb3 activates Notch1 in human podocytes [PDF]
Human Molecular Genetics, 2015 Podocyte injury is an early feature of Fabry nephropathy, but the molecular mechanisms of podocyte injury are poorly understood. Lyso-Gb3 accumulates in serum in Fabry disease and increases extracellular matrix synthesis in podocytes. We explored the contribution of Notch1 signaling, a mediator of podocyte injury, to lyso-Gb3-elicited responses in ...
Maria D, Sanchez-Niño +5 more
openaire +2 more sources
Molecular Genetics and Metabolism Reports, 2021 Drug-induced lysosomal storage disease (DILSD) caused by cationic amphiphilic drugs (CADs), which exhibits toxic manifestations and pathological findings mimicking Fabry disease (α-galactosidase A deficiency), has attracted the interests of clinicians ...
Takahiro Tsukimura +5 more
doaj +1 more source
Epithelial-Mesenchymal Transition in Kidney Tubular Epithelial Cells Induced by Globotriaosylsphingosine and Globotriaosylceramide. [PDF]
PLoS ONE, 2015 Fabry disease is a lysosomal storage disorder caused by deficiency of alpha-galactosidase A (α-gal A), which results in the deposition of globotriaosylceramide (Gb3) in the vascular endothelium.
Yeo Jin Jeon +4 more
doaj +1 more source
Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients. [PDF]
PLoS ONE, 2013 Fabry disease (FD) results from mutations in the gene (GLA) that encodes the lysosomal enzyme α-galactosidase A (α-Gal A), and involves pathological accumulation of globotriaosylceramide (GL-3) and globotriaosylsphingosine (lyso-Gb3).
Brandy Young-Gqamana +15 more
doaj +1 more source