Results 111 to 120 of about 7,450 (200)

Modulation of Enterohaemorrhagic Escherichia coli Survival and Virulence in the human Gastrointestinal Tract [PDF]

open access: yes, 2018
Enterohaemorrhagic Escherichia coli (EHEC) is a major foodborne pathogen responsible for human diseases ranging from diarrhoea to life-threatening complications.
Blanquet-Diot, Stéphanie   +5 more
core   +4 more sources

Verotoxin A Subunit Protects Lymphocytes and T Cell Lines against X4 HIV Infection in Vitro

open access: yesToxins, 2012
Our previous genetic, pharmacological and analogue protection studies identified the glycosphingolipid, Gb3 (globotriaosylceramide, Pk blood group antigen) as a natural resistance factor for HIV infection. Gb3 is a B cell marker (CD77), but a fraction of
Pei Lin Shi   +8 more
doaj   +1 more source

Electrocardiographic Changes and Arrhythmia in Fabry Disease

open access: yesFrontiers in Cardiovascular Medicine, 2016
Fabry disease is an X-chromosome-linked lysosomal storage disease characterized by a deficient activity or, in most males, absence of the enzyme alpha-galactosidase A (a-Gal A) leading to systemic, primary lysosomal accumulation of globotriaosylceramide (
Mehdi eNamdar
doaj   +1 more source

Role of TNF-α in the Mechanisms Responsible for Preterm Delivery Induced by Stx2 in Rats [PDF]

open access: yes, 2013
Shiga toxin-producing Escherichia coli (STEC) infections could be one of the causes of fetal morbimortality in pregnant women. We have previously reported that Shiga toxin type 2 (Stx2) causes preterm delivery in pregnant rats. In this study, we evaluate
Aisemberg   +36 more
core   +1 more source

Biochemical and clinical analysis of accumulated glycolipids in symptomatic heterozygotes of angiokeratoma corporis diffusum (Fabry's disease) in comparison with hemizygotes.

open access: yesJournal of Lipid Research, 1990
Angiokeratoma corporis diffusum (Fabry's disease) is an X-linked disorder of glycosphingolipid catabolism. Heterozygous females, although usually asymptomatic, are occasionally as severely afflicted as hemizygous males; recently we identified a ...
I Hozumi   +3 more
doaj   +1 more source

Genetic variants associated with gastrointestinal symptoms in Fabry disease. [PDF]

open access: yes, 2016
Gastrointestinal symptoms (GIS) are often among the earliest presenting events in Fabry disease (FD), an X-linked lysosomal disorder caused by the deficiency of α-galactosidase A.
Agapito, Giuseppe   +14 more
core   +1 more source

Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease [PDF]

open access: yes, 2017
Aims A hallmark of Fabry disease is the concomitant development of left-ventricular hypertrophy and arterial intima-media thickening, the pathogenesis of which is thought to be related to the presence of a plasmatic circulating growth-promoting factor ...
Barbey, Frédéric   +7 more
core  

Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease [PDF]

open access: yes, 2014
BACKGROUND: Management of Anderson-Fabry disease (AFD) is contentious, particularly regarding enzyme replacement therapy (ERT). We report results of a Delphi consensus panel on AFD management.
Antuzzi, D.   +31 more
core   +1 more source

Commentary on ‘Lentivirus‐mediated gene therapy for Fabry disease: 5‐year end‐of‐study results from the Canadian FACTS trial’

open access: yes
Clinical and Translational Discovery, Volume 5, Issue 2, April 2025.
Alessandro Rossi   +1 more
wiley   +1 more source

Renal globotriaosylceramide deposits for Fabry disease linked to uncertain pathogenicity gene variant c.352C>T/p.Arg118Cys: A family study

open access: yesMolecular Genetics & Genomic Medicine, 2019
Background Fabry disease (FD) has an extensive phenotypic expression associated with GLA gene variants. The GLA gene variant c.352C>T/p.Arg118Cys was considered with uncertain pathogenicity because of the finding of high residual alpha‐galactosidase A (α‐
Magdalena Cerón‐Rodríguez   +4 more
doaj   +1 more source

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