Results 61 to 70 of about 30,590 (168)

Globotriaosylceramide, Gb3, is an alternative functional receptor for Shiga-like toxin 2e [PDF]

Infection and Immunity, 1995
We reexamined the binding specificity of the Shiga-like toxin variant associated with porcine edema disease, SLT2e, which is reported to be more cytotoxic for Vero cells than for HeLa cells, by using receptor-deficient cells and a liposomal insertion system for purified glycolipids.
G T, Keusch, M, Jacewicz, D W, Acheson, A, Donohue-Rolfe, A V, Kane, R H, McCluer   +5 more
openaire   +2 more sources

Could Fabry Disease Cause Giant Coronary Aneurysms in a 7‐Month‐Old Infant: A Case Report

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Fabry disease is a rare X‐linked lysosomal storage disorder that can affect multiple organs. Cardiac involvement, one of its significant manifestations, can begin in childhood and is more prevalent in males, with severity increasing with age and disease progression.
Reza Shabanian, Minoo Dadkhah, Rana Doroudian, Mehrnaz Adib, Sahar Naderi, Khashayar Ashkboos   +5 more
wiley   +1 more source

Tri‐Parametric Assessment of α‐Galactosidase A Activity, lysoGb3 and X‐Inactivation Aids Genotype‐Phenotype Categorization of Fabry Disease Female Patients

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Fabry disease (FD, OMIM 301500) is an X‐linked lysosomal storage disorder caused by deficient activity of lysosomal alpha‐galactosidase A (AGAL, E.C. 3.2.1.22) due to pathogenic variants in the GLA gene (HGNC:4296, Xq22.1). Plasmatic deacylated globotriaosylceramide (lysoGb3) is elevated in FD patients as a reflection of lysosomal accumulation
Ladislav Kuchar, Lenka Dvorakova, Linda Berna, Martin Reboun, Petra Slavikova, Radovan Bakalar, Jana Ledvinova, Helena Poupetova, Petr Ruzicka, Asfaw Befekadu, Gabriela Dostalova, Stella Reichmannova, Ales Linhart, Jakub Sikora   +13 more
wiley   +1 more source

Design of Nanocarriers for Kidney Targeted Delivery of Nucleic Acid Therapeutics

Macromolecular Bioscience, Volume 26, Issue 7, July 2026.
Nucleic acid therapeutics have been investigated to expand their applications to renal genetic disorders. This review summarizes key considerations in the design and fabrication of nanocarriers for the systemic delivery of nucleic acid therapeutics to the kidneys.
Jun Hyuk Lee, Junku Han, Sehwan Park, Hyejung Mok   +3 more
wiley   +1 more source

Environmental Cues Modulate Microglial Cell Behavior Upon Shiga Toxin 2 From Enterohemorrhagic Escherichia coli Exposure

Frontiers in Cellular and Infection Microbiology, 2020
Shiga toxin (Stx) produced by enterohemorrhagic E. coli produces hemolytic uremic syndrome and encephalopathies in patients, which can lead to either reversible or permanent neurological abnormalities, or even fatal cases depending on the degree of ...
Clara Berdasco, Maite Duhalde Vega, María Victoria Rosato-Siri, Jorge Goldstein   +3 more
doaj   +1 more source

Selective foraging by aardvarks Orycteropus afer on termite mounds: influence of mound structure, spatial distribution, and geology in a savanna landscape

Wildlife Biology, Volume 2026, Issue 4, July 2026.
Predator foraging patterns reflect how animals interact with spatially heterogeneous resources, yet how these patterns manifest across complex landscapes remains poorly understood. We investigated selective excavation of termite mounds by aardvarks Orycteropus afer in Gonarezhou National Park, examining how mound structural characteristics, size ...
Justice Muvengwi, Neo Debeila
wiley   +1 more source

Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome.

PLoS ONE, 2012
IntroductionEnzyme replacement therapy (ERT) with alpha-Galactosidase A (aGal A) may cause antibody (AB) formation against aGal A in males with Fabry disease (FD). Anti agalsidase ABs negatively influence globotriaosylceramide (Gb3) reduction.
Saskia M Rombach, Johannes M F G Aerts, Ben J H M Poorthuis, Johanna E M Groener, Wilma Donker-Koopman, Erik Hendriks, Mina Mirzaian, Sijmen Kuiper, Frits A Wijburg, Carla E M Hollak, Gabor E Linthorst   +10 more
doaj   +1 more source

An Unusual Etiology of Bayés' Syndrome: Fabry Disease

Annals of Noninvasive Electrocardiology, Volume 31, Issue 4, July 2026.
This patient with gene confirmed Fabry disease had advanced interatrial conduction block as seen on atrial‐specific vector tracing demonstrating sinus bradycardia with first‐degree AV block and sinus P‐wave terminal delay with biphasic morphology. The patient was later diagnosed with atrial fibrillation, which led to the diagnosis of Bayés' syndrome ...
Nicholas E. Kunce, Andre Silva, Mark Haigney, Adam Kisling   +3 more
wiley   +1 more source

Evidence for hippocampal globotriaosylceramide (Gb3) accumulation and spatial memory impairment in a mouse model of Fabry disease

Neurobiology of Disease
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene that reduce α-galactosidase A activity and lead to progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids.
Marco Salluzzo, Francesca Flotta, Cecilia Delprete, Violetta Lazzarotti, Francesco Formaggio, Beatrice Vignoli, Ludovica Campolongo, Gabriele Campana, Lucia Carboni, Marco Canossa, Vincenzo Donadio, Rocco Liguori, Marco Caprini, Roberto Rimondini   +13 more
doaj   +1 more source

Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy

The Journal of Clinical Investigation, 2023
Current therapies for Fabry disease are based on reversing intracellular accumulation of globotriaosylceramide (Gb3) by enzyme replacement therapy (ERT) or chaperone-mediated stabilization of the defective enzyme, thereby alleviating lysosomal ...
Fabian Braun, Ahmed Abed, Dominik Sellung, Manuel Rogg, Mathias Woidy, Oysten Eikrem, Nicola Wanner, Jessica Gambardella, Sandra D. Laufer, Fabian Haas, Milagros N. Wong, Bernhard Dumoulin, Paula Rischke, Anne Mühlig, Wiebke Sachs, Katharina von Cossel, Kristina Schulz, Nicole Muschol, Sören W. Gersting, Ania C. Muntau, Oliver Kretz, Oliver Hahn, Markus M. Rinschen, Michael Mauer, Tillmann Bork, Florian Grahammer, Wei Liang, Thorsten Eierhoff, Winfried Römer, Arne Hansen, Catherine Meyer-Schwesinger, Guido Iaccarino, Camilla Tøndel, Hans-Peter Marti, Behzad Najafian, Victor G. Puelles, Christoph Schell, Tobias B. Huber   +37 more
doaj   +1 more source