Results 1 to 10 of about 163 (67)
RIPK3 Contributes to Lyso-Gb3-Induced Podocyte Death
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 +3 more sources
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 +3 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
Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease. [PDF]
PLoS ONE, 2015 Biomarkers useful for diagnosis and evaluation of treatment for patients with Fabry disease are urgently needed. Recently, plasma globotriaosylsphingosine (lyso-Gb3) and lyso-Gb3-related analogues have attracted attention as promising biomarkers of Fabry
Hideaki Sueoka +4 more
doaj +1 more source
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
Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model
Journal of Lipid Research, 2020 Fabry disease is caused by deficient activity of α-galactosidase A, an enzyme that hydrolyzes the terminal α-galactosyl moieties from glycolipids and glycoproteins, and subsequent accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3 ...
Siamak Jabbarzadeh-Tabrizi +6 more
doaj +1 more source
Genetics in Medicine Open, 2023 In 2016, a systematic review and a meta-analysis of existing data on the effects of switch from agalsidase beta to alfa in patients with Fabry disease showed that the switch was well tolerated and associated with stable disease progression.
Eleonora Riccio +8 more
doaj +1 more source
A questionnaire survey on the diagnosis and treatment of Fabry nephropathy in clinical practice [PDF]
Kidney Research and Clinical Practice, 2023 Background Fabry nephropathy is characterized by a deficiency of lysosomal alpha-galactosidase A, which results in proteinuria and kidney disease. The ineffectiveness of enzyme replacement therapy (ERT) for severe kidney failure highlights the need for ...
Soo Jeong Choi +11 more
doaj +1 more source