100 documents found, page 1 of 10

Clean label approaches in cheese production: where are we?

The Clean Label concept has gained significant traction in the cheese industry due to consumer preferences for minimally processed cheeses free from synthetic additives. This review explores different approaches for applying Clean Label principles to the cheese industry while maintaining food safety, sensory quality, and shelf life. Non-thermal technologies, such as high-pressure processing (HPP), pulsed electr...

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

The Biology of Lysosomes: From Order to Disorder

Since its discovery in 1955, the understanding of the lysosome has continuously increased. Once considered a mere waste removal system, the lysosome is now recognised as a highly crucial cellular component for signalling and energy metabolism. This notable evolution raises the need for a summarized review of the lysosome’s biology. As such, throughout this article, we will be compiling the current knowledge reg...

Bread with a high level of resistant starch influenced the digestibility of the...

Eating foods in which available starch was replaced by resistant starch (RS) causes lower glucose and insulin responses. There is insufficient evidence for the effects of RS when the total available carbohydrates content remains constant. The present study aimed to evaluate the effects of bread with a high amount of RS3, compared to control bread. The effects of RS on glycaemia, insulin response, appetite visua...

Bread with a high level of resistant starch influenced the digestibility of the...

Eating foods in which available starch was replaced by resistant starch (RS) causes lower glucose and insulin responses. There is insufficient evidence for the effects of RS when the total available carbohydrates content remains constant. The present study aimed to evaluate the effects of bread with a high amount of RS3, compared to control bread. The effects of RS on glycaemia, insulin response, appetite visua...

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...

Tay Sachs disease variant B1: iPSC and NGS as the basis for a cellular model

Tay Sachs disease variant B1 (TSD B1; OMIM 272800) is a neurodegenerative lysosomal storage disease (LSD) which, although rare, is the most frequent form of TSD in Portugal. The mutation p.R178H (c.533G>A; rs28941770), associated with TSD B1, leads to a mutant HexA protein with altered kinetics and reduced residual activity. The availability of disease-relevant cell types derived from induced pluripotent stem c...

From fibroblasts to cardiomyocytes and beyond

From Fabry disease causing effect to personalised cell model of cardiomyocytes and future mutation correction applying a prime-editing approach.

Cell lines for the study of Lysosomal Storage Diseases: conservation and identity

The use of cell lines has revolutionized research in the area of human genetics. The possibility of allowing, at a low cost and relative ease, practical access to biological material bearing in mind the benefit to the patient/family by obtaining samples with adequate informed consent, is a great asset. The accessibility of cell lines from biobanks allows access to samples with all the ethical and feasibility co...

From Lysosomal Storage Disease iPSCs models to gene editing therapy: future per...

Fabry Disease (FD, MIM#301500) and Tay Sachs disease (TSD, MIM #272800) are two sphingolipidoses that belong to the vast group of lysosomal storage disorders (LSDs). These diseases are characterized by mutations in genes that encode lysosomal hydrolases or activator proteins engaged in the intralysosomal degradation of sphingolipids. In the Portuguese population, LSDs have a prevalence of 1/5000 live births. FD...