An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy. [PDF]
, 2016 BackgroundFollowing a drug manufacturing process change, safety/efficacy of agalsidase alfa were evaluated in enzyme replacement therapy (ERT)-naïve children with Fabry disease.MethodsIn an open-label, multicenter, Phase II study (HGT-REP-084; Shire), 14
Chang, Peter +7 more
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Ileocecal appendix involvement in fabry disease mimicking an acute abdomen [PDF]
, 2014 Anderson-Fabry disease (AFD) is a rare, X-linked, lysosomal storage disorder due to a deficiency of alphagalactosidase A. The direct consequence is a lipid storage with the accumulation of glycosphingolipids throughout the body.
Cristi E +5 more
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The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat [PDF]
, 2017 PURPOSE: Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene. Migalastat, a pharmacological chaperone, binds to specific mutant forms of α-galactosidase A to restore lysosomal activity.
A Gal +53 more
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Skin Globotriaosylceramide 3 Load Is Increased in Men with Advanced Fabry Disease. [PDF]
PLoS ONE, 2016 The X-chromosomally linked life-limiting Fabry disease (FD) is associated with deposits of the sphingolipid globotriaosylceramide 3 (Gb3) in various tissues. Skin is easily accessible and may be used as an additional diagnostic and follow-up medium.
Nurcan Üçeyler +6 more
doaj +1 more source
The association of shiga-like toxin with detergent-resistant membranes is modulated by glucosylceramide and is an essential requirement in the endoplasmic reticulum for a cytotoxic effect [PDF]
, 2006 Receptor-mediated internalization to the endoplasmic reticulum (ER) and subsequent retro-translocation to the cytosol are essential sequential processes required for the productive intoxication of susceptible mammalian cells by Shiga-like toxin-1 (SLTx).
Falguières, Thomas +7 more
core +3 more sources
Shiga toxin production and translocation during microaerobic human colonic infection with Shiga toxin-producing E. coli O157:H7 and O104:H4 [PDF]
, 2014 Haemolytic uraemic syndrome caused by Shiga toxin-producing E. coli (STEC) is dependent on release of Shiga toxins (Stxs) during intestinal infection and subsequent absorption into the bloodstream.
Billoud, Lucile +4 more
core +2 more sources
EBioMedicine, 2020 Background: Fabry disease (FD) is a recessive X-linked lysosomal storage disorder caused by α-galactosidase A (GLA) deficiency. Although the mechanism is unclear, GLA deficiency causes an accumulation of globotriaosylceramide (Gb3), leading to ...
Hyo-Sang Do +9 more
doaj +1 more source
Effects of Catfish Egg Lectin on Cancer Cells Differ According to the Globotriaosylceramide Species They Express. [PDF]
Int J Mol SciSilurus asotus (Amur catfish) egg lectin (SAL) inhibits cell proliferation and enhances the effects of anticancer drugs by binding to globotriaosylceramide (Gb3) on the cell surface. Gb3 expression is typically increased in seminomas.
Sugawara S +4 more
europepmc +2 more sources
A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report [PDF]
, 2012 Background: Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation of a lysosomal hydrolase, the enzyme α-galactosidase A (GLA). This inactivation is responsible for the storage of undegraded glycosphingolipids
Albeggiani, G +7 more
core +2 more sources
Frontiers in Cellular and Infection Microbiology, 2020 Shiga toxin is the main virulence factor of non-invasive enterohemorrhagic Escherichia coli strains capable of causing hemolytic uremic syndrome. Our group has previously shown that the toxin can reach the kidney within microvesicles where it is taken up
Karl Johansson +6 more
doaj +1 more source