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
Binding of Pk-Trisaccharide Analogs of Globotriaosylceramide to Shiga Toxin Variants [PDF]
Infection and Immunity, 2013 ABSTRACT The two major forms of Shiga toxin, Stx1 and Stx2, use the glycolipid globotriaosylceramide (Gb3) as their cellular receptor. Stx1 primarily recognizes the Pk-trisaccharide portion and has three Pk binding sites per B monomer. The Stx2a subtype requires glycolipid residues in addition to Pk.
Hailemichael O, Yosief +2 more
openaire +2 more sources
Molecular Genetics and Metabolism Reports, 2022 We describe the cases of 47- and 45-year-old sisters who were diagnosed with Fabry disease by genomic analysis. Although the only abnormal finding was the presence of mulberry cells in their urinary sediment, the renal pathological scores, which were ...
Natsuo Yamada +6 more
doaj +1 more source
"Alternative" endocytic mechanisms exploited by pathogens: new avenues for therapeutic delivery? [PDF]
, 2007 Some pathogens utilize unique routes to enter cells that may evade the intracellular barriers encountered by the typical clathrin-mediated endocytic pathway.
Medina-Kauwe, LK
core +1 more source
Characterization of small fiber pathology in a mouse model of Fabry disease
eLife, 2018 Fabry disease (FD) is a life-threatening X-linked lysosomal storage disorder caused by α-galactosidase A (α-GAL) deficiency. Small fiber pathology and pain are major FD symptoms of unknown pathophysiology.
Lukas Hofmann +9 more
doaj +1 more source
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. [PDF]
, 2015 To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files.
Arngrímsson, Reynir +33 more
core +1 more source
p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease
Anatolian Journal of Cardiology, 2022 Fabry disease is a progressive and rare storage disease that occurs due to low or complete deficiency of lysosomal alpha galactosidase-A (α-GLA) enzyme activity.
Hasan Ali Barman +5 more
doaj +1 more source
Synchronous Disease Kinetics in a Murine Model for Enterohemorrhagic E. coli Infection Using Food-Borne Inoculation [PDF]
, 2016 Upon colonization of the intestinal epithelium, the attaching and effacing (AE) pathogen Enterohemorrhagic Escherichia coli (EHEC) effaces microvilli and forms pedestal-like structures beneath the adherent bacterium.
Elsa N. Bou Ghanem +2 more
core +2 more sources
Female Fabry disease patients and X-chromosome inactivation [PDF]
, 2018 Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α- galactosidase A (GLA). Once it was thought to affect only hemizygous males.
Gabig-Cimińska, Magdalena +7 more
core +1 more source