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Article
Open AccessA new p65 isoform that bind the glucocorticoid hormone and is expressed in inflammation liver diseases and COVID-19
Inflammation is a physiological process whose deregulation causes some diseases including cancer. Nuclear Factor kB (NF-kB) is a family of ubiquitous and inducible transcription factors, in which the p65/p50 h...
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Article
Open AccessDNA methylation impact on Fabry disease
Fabry disease (FD) is a rare X-linked disease caused by mutations in GLA gene with consequent lysosomal accumulation of globotriaosylceramide (Gb3). Women with FD often show highly heterogeneous symptoms that ...
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Article
Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy
Lysosomal storage diseases (LSDs) are inborn errors of metabolism resulting from 50 different inherited disorders. The increasing availability of treatments and the importance of early intervention have stimul...
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Article
Open AccessThe prognostic value of biomarkers in stroke
Ischemic injury triggers inflammatory cascades and changes in the protein synthesis, neurotransmitters and neuro-hormones in the brain parenchyma that may further amplify the tissue damage. The “Triage® Stroke...
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Article
Hypoadiponectinemia, cardiometabolic comorbidities and left ventricular hypertrophy
This study was designed to evaluate the prevalence of cardiometabolic comorbidities and the changes in left ventricular geometry and function in 135 subjects subgrouped according to low or normal total adipone...
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Article
Open AccessDe novo mutation in a male patient with Fabry disease: a case report
Fabry disease is an X-linked inherited metabolic condition where the deficit of the α-galactosidase A enzyme, encoded by the GLA gene, leads to glycosphingolipid storage, mainly globotriaosylceramide. To date,...
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Article
Open AccessA classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report
Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation of a lysosomal hydrolase, the enzyme α-galactosidase A (GLA). This inactivation is responsible for the storage ...
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Article
Blood group does not appear to affect longevity a pilot study in centenarians from Western Sicily
Centenarians are the best example of extreme human longevity, and they represent a selected population in which the appearance of major age-related diseases, such as cancer, and cardiovascular diseases among o...
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Article
Open AccessGenetic screening of Fabry patients with EcoTILLING and HRM technology
Anderson-Fabry disease (FD) is caused by a deficit of the α-galactosidase A enzyme which leads to the accumulation of complex sphingolipids, especially globotriaosylceramide (Gb3), in all the cells of the body...
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Article
Proteomic analysis of Parietaria judaica pollen and allergen profiling by an immunoproteomic approach
Parietaria judaica pollen is a common cause of airway allergic disease in the Mediterranean area. Proteome analysis of mature Parietaria judaica pollen by two-dimensional gel electrophoresis (2-DE) and mass spect...
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Article
Open AccessPathophysiology of vascular dementia
The concept of Vascular Dementia (VaD) has been recognized for over a century, but its definition and diagnostic criteria remain unclear.
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Article
Open AccessEndothelial nitric oxide synthase gene polymorphisms and cardiovascular damage in hypertensive subjects: an Italian case-control study
Nitric oxide (NO) synthesized by endothelial nitric oxide synthase (eNOS) plays an important role in regulation of endothelial function and in the control of blood pressure. However, the results from some stud...
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Article
Open AccessElectrophoresis of proteins and DNA on horizontal sodium dodecyl sulfate polyacrylamide gels
An inexpensive Plexiglas apparatus which allows a simple and rapid preparation of horizontal polyacrylamide gels of different dimensions for different purposes, is described. Preparation of such gels is as eas...
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Article
Regulation of ribosomal RNA synthesis in sea urchin embryos
By the use of labeled DNA probes which selectively hybridize to non mature ribosomal RNA precursors and by the combined use of Northern blots and ofin vivo labeling experiments we provide evidence for the followi...
