40 documents found, page 1 of 4

Doenças lisossomais de sobrecarga: da epidemiologia genética ao desenvolvimento...

Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A K...

Despite extensive research, the links between the accumulation of glycosaminoglycans (GAGs) and the clinical features seen in patients suffering from various forms of mucopolysaccharidoses (MPSs) have yet to be further elucidated. This is particularly true for the neuropathology of these disorders; the neurological symptoms are currently incurable, even in the cases where a disease-specific therapeutic approach...

Insurgent Parenting: Political Implications of Childrearing and Caring Practice...

Contemporary Western societies have accommodated relational rights of queer people, but the link between marriage and filiation rights remains strong. However, parallel to significant alternative family projects that emerged from Black and lesbian feminist studies, current possibilities of parenting enabled by intimate citizenship rights also present interesting practices of care outside the traditional family ...

MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the...

Lipids are essential for cellular function and are tightly controlled at the transcriptional and post-transcriptional levels. Dysregulation of these pathways is associated with vascular diseases, diabetes, cancer, and several inherited metabolic disorders. MicroRNAs (miRNAs), in particular, are a family of post-transcriptional gene repressors associated with the regulation of many genes that encode proteins inv...

Assessing the in vitro toxicity of airborne (nano)particles to the human respir...

Several studies have been conducted to address the potential adverse health risks attributed to exposure to nanoscale materials. While in vivo studies are fundamental for identifying the relation-ship between dose and occurrence of adverse effects, in vitro model systems provide important information regarding the mechanism(s) of action at the molecular level. With a special focus on exposure to inhaled (nano)p...

Comparative Analysis of the Toxicity Profile of Eleven Consumer-Relevant Nanoma...

Background: The growing number of items incorporating nanomaterials (NM) has prompted considerable concerns about human health and safety [1]. Metal nanoparticles, inorganic non-metallic, and carbon-based NM are among the types with the highest market volume [2]. Objective: The purpose of this study was to determine the effect of chemical composition [Ag, Au, TiO2, SiO2, and graphene oxide (nano_GO)], primary s...

Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A K...

Despite extensive research, the links between the accumulation of glycosaminoglycans (GAGs) and the clinical features seen in patients suffering from various forms of mucopolysaccharidoses (MPSs) have yet to be further elucidated. This is particularly true for the neuropathology of these disorders; the neurological symptoms are currently incurable, even in the cases where a disease-specific therapeutic approach...

Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage D...

Over recent decades, the many functions of RNA have become more evident. This molecule has been recognized not only as a carrier of genetic information, but also as a specific and essential regulator of gene expression. Different RNA species have been identified and novel and exciting roles have been unveiled. Quite remarkably, this explosion of novel RNA classes has increased the possibility for new therapeuti...

Gene Editing in Fabry Disease: A Strategy Delineation

The use of iPSCs, in the last years became wide spread, even in our group at INSA, the use of iPSCs to develop models of disease is now envisaged for various Lysosomal Storage Diseases. Such cell models are being used to experiment several types of therapeutic methodologies, as well as approaches that interfere with normal pathways to provide understanding about pathologic mechanisms, and gene editing is partic...

The 2020s Tooth Fairy: from loose tooth to neuronal cell cultures, an innovativ...

The development of adequate in vitro disease models is a major issue in Biomedical Genetics. Those models allow for the initial screening of novel therapeutics and help us get an insight on the cellular mechanisms that underly pathology in each case. In fact, one of the best ways to get those insights is the analysis of patient-derived cells. Yet, not every cell holds potential to recapitulate relevant disease ...