Results 81 to 90 of about 3,638 (152)
Nanophotonics, Volume 14, Issue 23, Page 4005-4018, 02 November 2025.Abstract Plasmonic biosensors are powerful platforms for detecting various types of analytes. Specifically, surface‐enhanced Raman spectroscopy (SERS) can enable label‐free and selective detection. Shiga toxin‐producing Escherichia coli (STEC) represents zoonotic pathogens that cause severe diseases, such as hemolytic uremic syndrome (HUS), the most ...
Massimo Rippa +12 more
wiley +1 more source
Activator protein for the degradation of globotriaosylceramide by human alpha-galactosidase.
Journal of Biological Chemistry, 1983 An activator protein which stimulates the degradation of globotriaosylceramide by human hepatic alpha-galactosidase (alpha-D-galactoside galactohydrolase, EC 3.2.1.22) was isolated from human liver and purified some 1300-fold. The purified activator was heat stable up to 95 degrees C, its molecular weight was estimated at 20,000 by gel filtration ...
S, Gärtner, E, Conzelmann, K, Sandhoff
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Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Fabry disease (FD) is a lysosomal storage disease due to genetic variants in the GLA gene located on the X chromosome. Males are hemizygous, while many females are genetic mosaics due to the random inactivation of the X chromosome. While most of the identified variants are deleterious for GLA, in some cases, less rare gene variants have been ...
Antonina Giammanco +7 more
wiley +1 more source
Renal FailureFabry disease (FD) is a progressive, multisystemic X-linked disorder caused by mutations in the GLA gene, often leading to renal failure. Although several screening programs have been conducted, the prevalence of FD in patients with chronic kidney ...
Yuri Battaglia +14 more
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Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón +33 more
wiley +1 more source
Fabry disease. A potential pitfall A family with a novel intronic mutation
Molecular Genetics and Metabolism Reports, 2018 Fabry disease is a genetic disorder characterized by the accumulation of globotriaosylceramide in cell lysosomes resulting from an X-linked deficiency of α-galactosidase A activity.
Gustavo Cabrera, Fernando Perretta
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Acroparesthesia in a Female: Diagnostic Dilemma
Case Reports in Medicine, 2014 Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of a-galactosidase A (also known as ceramide trihexosidase) and resultant accumulation of globotriaosylceramide (Gb3) and related glycophospholipids.
Fnu Kelash +2 more
doaj +1 more source
Regulation of Globotriaosylceramide (Gb3)‐Mediated Signal Transduction by Rhamnose‐Binding Lectin
ChemInform, 2007 AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract, please click on HTML or PDF.
Kazuo, Nitta +3 more
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Globotriaosylceramide Immunostaining of Myocardium in a Patient With Fabry Disease
Circulation Journal, 2022 Yoshida, Satoru +5 more
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Rapamycin Autophagy Enhancement for Globotriaosylceramide Clearance
Rapamycin inhibits mTORC1 kinase activity leading to TFEB dephosphorylation and nuclear translocation, dramatically upregulating lysosomal biogenesis genes including LAMP1, LAMP2, and cathepsin D. Enhanced autophagy flux promotes clearance of accumulated Gb3 deposits while rapamycin's anti-inflammatory properties reduce chronic activation of microglia ...
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