Results 101 to 110 of about 7,739 (261)

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, Tasuku, Kawano, Shigeki, Sugawara, Masahiro, Hosono   +3 more
openaire   +3 more sources

Clinical and Biochemical Characterization of Fabry Disease Associated GLA Gene Variants: Data From a Large Cohort of 469 Thousand Genotyped Subjects of the UK Biobank Database

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, Carola Maria Gagliardo, Chiara Scrimali, Federica Brucato, Teresa Maria Grazia Fasciana, Maurizio Averna, Angelo Baldassare Cefalu, Davide Noto   +7 more
wiley   +1 more source

The secretion inhibitor Exo2 perturbs trafficking of Shiga toxin between endosomes and the trans-Golgi network [PDF]

, 2008
The small-molecule inhibitor Exo2 {4-hydroxy-3-methoxy-(5,6,7,8-tetrahydrol[1]benzothieno[2,3-d]pyrimidin-4-yl)hydraz-one benzaldehyde} has been reported to disrupt the Golgi apparatus completely and to stimulate Golgi–ER (endoplasmic reticulum) fusion ...
Aghi, Baeuerle, Beisswanger, Bonifacino, Daniel C. Smith, David J. Stephens, Donaldson, Endo, Falguieres, Feng, Feng, Fjeldstad, Frédéric Boal, Fujinaga, Gallione, Garred, Girod, Guy J. Clarkson, Hallas, Helms, Huttner, J. Michael Lord, Johannes, Jones, Joseph, Kovbasnjuk, Lee, Lippincott-Schwartz, Lippincott-Schwartz, Ludger Johannes, Lynne M. Roberts, Mohammed Amessou, Mossessova, Muller, Nichols, Orci, Ouyang, Peter Watson, Peyroche, Ponnambalam, Prescott, Presley, Ram, Ram, Reaves, Reaves, Robba, Robert A. Spooner, Robineau, Sandvig, Sandvig, Scheel, Schekman, Shima, Shvedov, Smith, Spooner, Stephens, Thyberg, Watson, White, Wood, Zeeh, Zeghouf   +63 more
core   +5 more sources

Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. [PDF]

PLoS ONE, 2007
Two different enzyme preparations, agalsidase alfa (Replagal(TM), Shire) and beta (Fabrazyme(TM), Genzyme), are registered for treatment of Fabry disease.
Anouk C Vedder, Gabor E Linthorst, Gunnar Houge, Johannna E M Groener, Els E Ormel, Berto J Bouma, Johannes M F G Aerts, Asle Hirth, Carla E M Hollak   +8 more
doaj   +1 more source

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

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, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single‐Centre Cohort

European Journal of Neurology, Volume 32, Issue 11, November 2025.
A retrospective cohort study of 368 adults with Fabry disease in the UK analysed time to stroke over approximately 10 years. It found that concomitant autoimmune disease increased stroke risk, while eGFR > 90 mL/min and the p.N215S genotype were associated with lower risk.
David Moreno‐Martinez, Sara Lucas‐Del‐Pozo, Lucia Lavalle, Uma Ramaswami, Lionel Ginsberg, Guillem Pintos‐Morell, Derralynn A. Hughes   +6 more
wiley   +1 more source

Enhanced thrombospondin-1 causes dysfunction of vascular endothelial cells derived from Fabry disease-induced pluripotent stem cells

EBioMedicine, 2020
Background: Fabry disease (FD) is a recessive X-linked lysosomal storage disorder caused by α-galactosidase A (GLA) deficiency. Although the mechanism is unclear, GLA deficiency causes an accumulation of globotriaosylceramide (Gb3), leading to ...
Hyo-Sang Do, Sang-Wook Park, Ilkyun Im, Donghyuk Seo, Han-Wook Yoo, Heounjeong Go, Yoo Hyung Kim, Gou Young Koh, Beom-Hee Lee, Yong-Mahn Han   +9 more
doaj   +1 more source

Fabry disease: will markers of early disease enable early treatment and better outcomes? [PDF]

, 2016
PURPOSE OF REVIEW: This review explores the clinical and pathological features of Fabry disease. New modalities of imaging, biomarkers and long-term treatment effects are discussed. RECENT FINDINGS: Fabry disease is clinically heterogeneous, and in women
Hughes, DA
core  

Flagellin induces β-defensin 2 in human colonic ex vivo infection with enterohemorrhagic Escherichia coli [PDF]

, 2016
Enterohemorrhagic E. coli (EHEC) is an important foodborne pathogen in the developed world and can cause life-threatening disease particularly in children.
Chan, Simon, Cook, Vivienne, Ellis, Samuel, Gelson, William, Lewis, Steven, Prior, Alison, Schuller, Stephanie   +6 more
core   +1 more source

Genetics, cardiac phenotype and cardiovascular outcomes in Fabry disease patients in Finland

ESC Heart Failure, Volume 12, Issue 5, Page 3502-3511, October 2025.
Abstract Aims To investigate the genetics, cardiac phenotype and cardiovascular outcomes of Finnish Fabry patients. Methods and results Among the 109 patients with Fabry disease (FD) diagnosed in Finland by 2018, 97 (89%; 32 males and 65 females, mean ages 42 and 52 years) were followed for a mean of 12 years.
Kati Valtola, Päivi Pietilä‐Effati, Jonna M. E. Männistö, Susanne Walls, Ilkka Kantola, Johanna Kuusisto   +5 more
wiley   +1 more source