Susceptibility of Human B-Lymphoblastoid Cells to Shiga Toxin Intoxication Homologues [PDF]
MicroorganismsShiga toxins (Stx), produced by Stx-producing Escherichia coli (STEC), are known to target Gb3-expressing cells, contributing to organ pathology such as in the kidney and brain.
Alfredo G. Torres +8 more
doaj +2 more sources
Unraveling A4GALT Mechanism and Its Modulation With Adamantyl-Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies. [PDF]
Angew Chem Int Ed EnglA 310‐helix‐mediated conformational switch promotes a front‐face SNi‐like catalysis by human A4GALT. Mechanism‐guided design identifies AdaGalCer as a selective modulator of globotriaosylceramide (Gb3) biosynthesis, opening a clear route toward new Fabry disease therapeutics.
de Koster N +13 more
europepmc +3 more sources
Clinical and Biochemical Improvement After Switching From Agalsidase Alfa to Beta in a Boy With Classic Fabry Disease: A Case Report. [PDF]
Clin Case RepABSTRACT We described a 12‐year‐old boy with classic Fabry disease who was diagnosed through newborn screening. At age 6.2, he started agalsidase alfa based on evidence of subclinical organ involvement. At age 7.2, acroparesthesia subsequently developed.
Koga N +7 more
europepmc +2 more sources
Structural Basis of Shiga Toxin Neutralization by Human Antibodies Targeting Canonical Receptor-Binding and Non-Canonical Assembly Sites. [PDF]
Adv Sci (Weinh)Cryo‐electron microscopy structures reveal two distinct neutralization mechanisms of fully human monoclonal antibodies targeting the Shiga toxin 1a B subunit. RDS059 occludes the Gb3 receptor‐binding site, whereas RDS045 engages a lateral quaternary epitope to disrupt holotoxin assembly.
Ke J +10 more
europepmc +2 more sources
Toxins, 2010 A major problem with anti-cancer drug treatment is the development of acquired multidrug resistance (MDR) of the tumor cells. Verotoxin-1 (VT-1) exerts its cytotoxicity by targeting the globotriaosylceramide membrane receptor (Gb3), a glycolipid ...
Kjell Grankvist +2 more
exaly +3 more sources
Automated quantification of skin Gb3 load and white matter lesion assessment in Fabry disease [PDF]
Orphanet Journal of Rare DiseasesBackground Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by cellular accumulation of globotriaosylceramide (Gb3). Methods We investigated dermal Gb3 load as a potential surrogate marker for systemic FD manifestations by ...
Catharina Pfister +10 more
doaj +2 more sources
Pharmaceutics, 2018 Fabry disease is a rare lysosomal storage disorder resulting from the lack of α-Gal A gene activity. Globotriaosylceramide (GB3, ceramide trihexoside) is a novel endogenous biomarker which predicts the incidence of Fabry disease. At the early stage
Byeong Ill Lee +2 more
exaly +3 more sources
Nanomedicines for DNA and interference RNA co-delivery: Combined gene therapy for Fabry disease [PDF]
International Journal of Pharmaceutics: XFabry disease (FD) is a multisystemic rare disorder caused by mutations in the GLA gene encoding α-Galactosidase A (α-Gal A) enzyme. The deficiency of this enzyme leads to progressive lysosomal accumulation of glycosphingolipids, especially ...
Marina Beraza-Millor +5 more
doaj +2 more sources
The Gb3-synthase A4GALT is an epigenetically regulated driver of tumor invasiveness in gastrointestinal cancer [PDF]
BMC CancerBackground Tumor lipid metabolism has emerged as a critical, yet underexplored, determinant of cancer progression with clinical and prognostic importance.
Noah-David Hirsch +11 more
doaj +2 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