Innovative therapeutic approaches for the recovery of protein expression in rare genetic diseases characterized by the presence of nonsense variants

Approximately 11% of inherited genetic diseases worldwide are caused by nonsense variants. These single-nucleotide substitutions occur within coding DNA sequences and result in the introduction of a premature termination codon (PTC) into the corresponding mRNA. As a consequence, they lead to the production of truncated, non-functional proteins or, in some cases, to their complete absence.Several genetic disorders are associated with nonsense variants, including Choroideremia (CHM), Cystic Fib...

Sintesi e caratterizzazione di sistemi nanostrutturati per applicazioni in teranostica

MULTIPHYSICS OPTIMIZATION OF THE DEMO HELIUM-COOLED PEBBLE BED MONOBLOCK BREEDING BLANKET

Verbal and Visuospatial components of Working Memory and Chemistry Learning among Undergraduate Students with and without Specific Learning Disabilities (SLDs)

This doctoral research investigates how verbal and visuospatial components of Working Memory (WM) contribute to chemistry learning, with particular attention to students with and without Specific Learning Disabilities (SLDs). Building on Johnstone’s triplet model of chemical representation—macroscopic, sub-microscopic, and symbolic—this work explores how the two domain-specific components of WM support students’ ability to understand a chemistry topic. Furthermore, it investigates whether the...

Rapid Weight Loss in Combat Sports: Multidimensional Impacts on Performance and Health

Background: Rapid weight loss (RWL) represents one of the most widespread yetphysiologically and psychologically demanding practices in weight-category combat sports.Athletes in disciplines such as judo, wrestling, taekwondo, and mixed martial artsfrequently engage in acute weight-cutting strategies involving dehydration, caloricrestriction, and intensified training in order to qualify for competition. While these methodsare considered part of the competitive culture, mounting evidence sugges...

SINTESI E CARATTERIZZAZIONE DI SISTEMI NANOSTRUTTURATI PER LA NANOMEDICINA

COMPOSTI FUNZIONALI DA PIANTE SELVATICHE COMMESTIBILI E NEI RIFIUTI AGROALIMENTARI

La transizione verso modelli produttivi sostenibili rappresenta una sfida prioritaria a livello globale, in particolare per il settore agroalimentare, fortemente impattante in termini di consumo di risorse naturali, emissioni climalteranti e perdita di biodiversità. In questo contesto, la valorizzazione di risorse vegetali alternative e poco sfruttate – quali scarti agroalimentari e piante selvatiche commestibili (Wild Edible Plants, WEP) – emerge come strategia chiave per promuovere l’econom...

SYNTHESIS AND CHARACTERIZATION OF ANTIMICROBIAL DERIVATIVES

The synthesis of molecules with antimicrobial activity, and the characterization of active and non-active substances produced by bacteria, represents the central core of this doctoral dissertation. In particular, it has been possible to demonstrate both the versatility of 1,2,4oxadiazole and triazole derivatives in the field of antimicrobials drugs, and how the study of bacterial metabolites can be a source of inspiration for the characterization of molecules with active properties or bio-pol...

Esperienze di lettura ed esplorazione ambientale nell’educazione letteraria basata sul luogo: uno studio di caso collettivo

La seguente tesi di dottorato, dal titolo "Esperienze di lettura ed esplorazione ambientale nell’educazione letteraria basata sul luogo: uno studio di caso collettivo", costituisce il risultato finale di una ricerca qualitativa condotta nell’ambito del corso dottorale in “Tecnologie e Metodi per la Formazione Universitaria” nel triennio 2022/2025 (ciclo XXXVIII).L’indagine in questione, originariamente intitolata "Quaderni di montagna", ha inteso soffermarsi sull’educazione letteraria basata ...