Abnormal glycosylation is a common feature in disease that typically results from misregulation i... more Abnormal glycosylation is a common feature in disease that typically results from misregulation in expression and/or activity of glycosyltransferases (GTs) and glycosidases. Interfering with these enzymes, by developing a prospect of targeted inhibitors, has opened newer avenues to meet the challenge of abnormal glycosylation. Progress in GT inhibitors has been relatively slower in comparison to glycosidases. In case of GTs, their polyspecific nature, structural homology, overlapping specificities, multi-substrate catalytic mechanism and relatively less available 3D-structural data stance a big challenge to explore the whole potential of GT target inhibitors in comparison to glycosidases for therapeutic purposes. In this review, we focus on GT specific inhibitors, which are organised as conventional donor analogues (viz. donor, acceptor and transition state mimetic), glycomimetic, alternative inhibitor chemotype and metabolic chain terminator. Conventional donor analogues are however limited by the poor membrane permeability and chemical instability. Thus, in the last two decades, alternative inhibitor chemotypes caught attention as a promising lead, which are not structurally derived from GT substrates and possess drug like properties offering an alternate non-substrate like inhibitor based strategy for drug development. Although successful cellular GT-targeted molecules are yet to be achieved, recent designing of metabolic inhibitors i.e., dead end substrates are emerging as an impetus to explore the potential of GT families as therapeutic targets.
Asthma is a chronic inflammatory airways disease, with a rising prevalence, particularly in child... more Asthma is a chronic inflammatory airways disease, with a rising prevalence, particularly in childhood, and is considered an important Public Health problem. It’s familial transmission is recognised, while the description and identification of the genes implicated in this disease are a challenge. In this revision paper the authors give a comprehensive explanation of the associated genes as well as the laboratorial methods that allow their identification.
International Journal of Environmental Research and Public Health
At least 50% of chronic disease patients don’t follow their care plans, leading to lower health o... more At least 50% of chronic disease patients don’t follow their care plans, leading to lower health outcomes and higher medical costs. Providing Patient Education Materials (PEMs) to individuals living with a disease can help to overcome these problems. PEMs are especially beneficial for people suffering from multisystemic and underrecognized diseases, such as rare diseases. Congenital disorders of glycosylation (CDG) are ultra-rare diseases, where a need was identified for PEMs in plain language that can clearly explain complex information. Community involvement in the design of PEMs is extremely important for diseases whose needs are underserved, such as rare diseases; however, attempts to involve lay and professional stakeholders are lacking. This paper presents a community-based participatory framework to co-create PEMs for CDG, that is transferable to other diseases. A literature review and questionnaire were performed, and only four articles describing the development of PEMS for ...
Abnormal glycosylation is a common feature in disease that typically results from misregulation i... more Abnormal glycosylation is a common feature in disease that typically results from misregulation in expression and/or activity of glycosyltransferases (GTs) and glycosidases. Interfering with these enzymes, by developing a prospect of targeted inhibitors, has opened newer avenues to meet the challenge of abnormal glycosylation. Progress in GT inhibitors has been relatively slower in comparison to glycosidases. In case of GTs, their polyspecific nature, structural homology, overlapping specificities, multi-substrate catalytic mechanism and relatively less available 3D-structural data stance a big challenge to explore the whole potential of GT target inhibitors in comparison to glycosidases for therapeutic purposes. In this review, we focus on GT specific inhibitors, which are organised as conventional donor analogues (viz. donor, acceptor and transition state mimetic), glycomimetic, alternative inhibitor chemotype and metabolic chain terminator. Conventional donor analogues are however limited by the poor membrane permeability and chemical instability. Thus, in the last two decades, alternative inhibitor chemotypes caught attention as a promising lead, which are not structurally derived from GT substrates and possess drug like properties offering an alternate non-substrate like inhibitor based strategy for drug development. Although successful cellular GT-targeted molecules are yet to be achieved, recent designing of metabolic inhibitors i.e., dead end substrates are emerging as an impetus to explore the potential of GT families as therapeutic targets.
Asthma is a chronic inflammatory airways disease, with a rising prevalence, particularly in child... more Asthma is a chronic inflammatory airways disease, with a rising prevalence, particularly in childhood, and is considered an important Public Health problem. It’s familial transmission is recognised, while the description and identification of the genes implicated in this disease are a challenge. In this revision paper the authors give a comprehensive explanation of the associated genes as well as the laboratorial methods that allow their identification.
International Journal of Environmental Research and Public Health
At least 50% of chronic disease patients don’t follow their care plans, leading to lower health o... more At least 50% of chronic disease patients don’t follow their care plans, leading to lower health outcomes and higher medical costs. Providing Patient Education Materials (PEMs) to individuals living with a disease can help to overcome these problems. PEMs are especially beneficial for people suffering from multisystemic and underrecognized diseases, such as rare diseases. Congenital disorders of glycosylation (CDG) are ultra-rare diseases, where a need was identified for PEMs in plain language that can clearly explain complex information. Community involvement in the design of PEMs is extremely important for diseases whose needs are underserved, such as rare diseases; however, attempts to involve lay and professional stakeholders are lacking. This paper presents a community-based participatory framework to co-create PEMs for CDG, that is transferable to other diseases. A literature review and questionnaire were performed, and only four articles describing the development of PEMS for ...
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Papers by Paula Videira