Results 41 to 50 of about 3,683 (169)

Neutral glycosphingolipids in human blood: a precise mass spectrometry analysis with special reference to lipoprotein-associated Shiga toxin receptors[S]

Journal of Lipid Research, 2010
Shiga toxin (Stx)-producing Escherichia coli are the leading cause of hemorrhagic colitis and life-threatening extraintestinal complications in humans. Stx1 and Stx2 are transferred by yet to be delineated mechanisms from the intestine to the circulation
Christian H. Schweppe, Petra Hoffmann, Jerzy-Roch Nofer, Gottfried Pohlentz, Michael Mormann, Helge Karch, Alexander W. Friedrich, Johannes Müthing   +7 more
doaj   +1 more source

Unexpectedly high renal pathological scores of two female siblings with Fabry disease presenting with urinary mulberry cells without microalbuminuria

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, Hirofumi Sakuma, Mitsuru Yanai, Ayana Suzuki, Keisuke Maruyama, Motoki Matsuki, Naoki Nakagawa   +6 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, Namhee Jung, Joo-Won Park, Hae-Young Park, Sung-Chul Jung   +4 more
doaj   +1 more source

Does administration of hydroxychloroquine/amiodarone accelerate accumulation of globotriaosylceramide and globotriaosylsphingosine in Fabry mice?

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, Tomoko Shiga, Koki Saito, Yasuhiro Ogawa, Hitoshi Sakuraba, Tadayasu Togawa   +5 more
doaj   +1 more source

Unraveling A4GALT Mechanism and Its Modulation With Adamantyl‐Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies

Angewandte Chemie International Edition, EarlyView.
A 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.
Nicky de Koster, Òscar Vidal‐Gironès, Rowan de Graaf, Ken Kok, Lindsey T. Lelieveld, Jackelien Hoogervorst, Maria J. Ferraz, José Pablo Rivas‐Fernández, Rob F. Lammers, Herman S. Overkleeft, Johannes M. F. G. Aerts, Rolf G. Boot, Carme Rovira, Marta Artola   +13 more
wiley   +1 more source

A symptomatic Fabry disease mouse model generated by inducing globotriaosylceramide synthesis [PDF]

Biochemical Journal, 2013
Fabry disease is a lysosomal storage disorder in which neutral glycosphingolipids, predominantly Gb3 (globotriaosylceramide), accumulate due to deficient α-Gal A (α-galactosidase A) activity. The GLAko (α-Gal A-knockout) mouse has been used as a model for Fabry disease, but it does not have any symptomatic abnormalities.
Atsumi, Taguchi, Hiroki, Maruyama, Masaaki, Nameta, Tadashi, Yamamoto, Junichiro, Matsuda, Ashok B, Kulkarni, Hidekatsu, Yoshioka, Satoshi, Ishii   +7 more
openaire   +2 more sources

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, Dorothea Hose, Anne Grießhammer, Robert Blum, Frank Döring, Sulayman Dib-Hajj, Stephen Waxman, Claudia Sommer, Erhard Wischmeyer, Nurcan Üçeyler   +9 more
doaj   +1 more source

Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss [PDF]

Journal of the American Society of Nephrology, 2020
Significance Statement In males with classic Fabry disease, the processes leading to the frequent outcome of ESKD are poorly understood. Mutations in the gene encoding α-galactosidase A leads to globotriaosylceramide accumulation in various cell types; in podocytes, this accumulation progresses with age.
Najafian, Behzad, Tøndel, Camilla, Svarstad, Einar, Gubler, Marie-Claire, Oliveira, Joao-Paulo, Mauer, Michael   +5 more
openaire   +4 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