Dipartimento di Farmacia e Scienze della Salute e della Nutrizione

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Diagnostic challenges for genetic approaches in Amyotrophic Lateral Sclerosis
(Università della Calabria, 2023-02-28) Perrone, Benedetta; Catalano, Stefania; Conforti, Francesca Luisa
Over the past years, our understanding of the genetic mechanisms involved in complex diseases, such as Amyotrophic Lateral Sclerosis, has increased dramatically. ALS is a fatal and devastating motor neuron disease for which there is no truly effective cure. In 1993, the first gene associated with ALS was identified (1). Since then, our knowledge of the genetic mechanisms of disease has expanded significantly. Diagnostic tools have followed these research insights and Sanger DNA sequencing has been routinely used for many years. The emergence of next-generation DNA sequencing (NGS) approaches in the same decade allowed high throughput approaches to DNA sequencing, enabling the identification of new genes and pathways that highlight the heterogeneity of ALS disease, providing exciting opportunities for the identification of biomarkers useful for patient stratification and helping the development of targeted therapies. Despite our increased understanding of the mechanisms of this disease, the majority of patients remain undiagnosed, and the remaining cases have no successful treatments. The absence of an effective cure can be well explained by the complex and heterogeneous nature of ALS, with patients displaying distinct clinical characteristics and distinct molecular mechanisms. In this context, the molecular profiling of patients into clinically meaningful subgroups can be extremely valuable for the development of new precision diagnostics. In this thesis project, we provide an overview on the genetic investigation of ALS patients using different diagnostic approaches highlighting the importance of each methodology and their integrative use for the study of the disease, with the aim of providing a more comprehensive characterization of patients useful for the development of new-targeted strategies in clinical practice and personalized medicine.
Breast tumor microenvironment and endocrine resistance: dissecting the molecular link
(Università della Calabria, 2023-07-04) Caruso, Amanda; Catalano, Stefania; Andò, Sebastiano
Small molecules from cycloaddition reactions: synthesis, theoretical perspectives, and biological evaluation
(Università della Calabria, 2023-02-07) Tallarida, Matteo Antonio; Maiuolo, Loredana; Catalano, Stefania; Breugst, Martin; Rutjes, Floris
The research work is related to a Ph.D. course in Translational Medicine of the Department of Pharmacy, Health, and Nutritional Sciences, University of Calabria. The project was carried out at the Department of Chemistry and Chemical Technologies of the same institution under the supervision of Prof. Loredana Maiuolo in the Laboratory of Organic Synthesis and Chemical Preparations (LabOrSy) headed by Prof. Antonio De Nino. The main subject of this research regards the use of cycloaddition reactions for the synthesis of small molecules with potential biological activity in diverse contexts. Alongside the prominent synthetic part, a series of QM computational studies were conducted to clarify some reaction mechanisms. In addition, molecular docking studies were performed to propose potential targets for some of the prepared compounds. The work is subdivided into four main parts. The first chapter is dedicated to the synthesis of 1,5-disubstituted 1,2,3-triazoles, to a series of molecular docking simulations, and to the biological evaluation of two compounds as inhibitors of the permeability transition pore opening event. The second part is about the microwave-assisted synthesis of isoxazolidine bisphosphonates as potential farnesyl pyrophosphate synthase (hFPPS) inhibitors. The third chapter focuses on the use of pyridinium ylides as building blocks for the multicomponent synthesis of indolizines and spirocyclopropyl oxindoles. The reaction mechanism regarding these latter was computationally investigated. The fourth – and last – chapter regards the synthesis and the radical expansion reaction of norbornane derivatives. A computational assessment of the mechanism is reported also in this case. All the computational studies reported in chapters 1, 3, and 4 were conducted in the frame of an abroad research stay spent in the Computational Chemistry Group headed by Dr. Gonzalo Jiménez Osés of the Center for Cooperative Research in Biosciences (CIC bioGUNE).

Dipartimento di Farmacia e Scienze della Salute e della Nutrizione - Tesi di Dottorato

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