University of Jendouba

Wilson's disease is an autosomal recessive disorder related to genetic defects in ATP7B gene and characterized by a hepatic and/or neurological impairment. This disease is often misdiagnosed on due to its phenotypic heterogeneity, supporting the importance of the genetic testing. In our study, we reported two brothers presenting with a chronic hepatopathy, classified as intrahepatic cholestasis with unknown etiology based on clinical explorations. A molecular screening through Whole-exome-sequencing was conducted, followed by sanger sequencing and co-segregation analysis in the family's members. Generated data were the subject of in silico analysis. Results revealed two pathogenic heterozygous variants in ATP7B gene (p.Met665Ile/ p.Gly869Arg) in compound heterozygous state in the analyzed proband and his brother. Predictive data supported their effect on the stability at the RNA and protein levels. In line of these data, additional clinical explorations were ensured and the Leipzig score was assessed to establish the WD diagnosis. Moreover, we identified two additional heterozygous variants shared by both siblings in CFTR (p.Thr351Ser) and PEX26 (p.Leu153Val), which may act as phenotype modifiers. Notably, both patients exhibited exocrine pancreatic insufficiency, raising the possibility of a contributory role for the CFTR variant in this atypical presentation. In conclusion, our study reveals a complex genetic background involving ATP7B, CFTR, and PEX26. While the ATP7B variants are responsible for WD, the additional variants may influence the age of onset and severity of the clinical phenotype. These findings underscore the value of high-throughput sequencing technologies in uncovering the molecular basis and phenotypic complexity of inherited diseases.

Marine green algae of the genus Ulva are abundant worldwide. In the case of eutrophication, they can be stranded in large quantities, thereby causing ecological and economic problems. Compared to other macroalgae, this biomass remains underexploited on an industrial scale. Thus, the aim of this study was to develop an integrated downstream process applicable to the biomass of the green algae Ulva sp., allowing a major sequential recovery of high-added-value fractions corresponding to pigments, ulvan, alkali-soluble hemicelluloses, and cellulose. Indeed, the proposed concept using cascade extractions enable to produce 0.64 ± 0.16 % of pigments rich in chlorophylls and caroténoids, 28 ± 0.8 % of ulvan, 5 ± 0.3 % of alkali-soluble hemicelluloses and 10 ± 0.4 % of cellulose based on initial dry weight. Characterization of the extracted polysaccharides and verification of their purity were confirmed using FTIR and monosaccharide composition analyses. To better evaluate the biodegradability and the success of the extraction procedure, enzymatic saccharification was applied at the end of the cascade using the cellulose fraction as the substrate. In parallel, saccharification of the total algal biomass was also carried out under the same conditions. Results showed a significant improvement in conversion yields from 74.6 ± 0.85 % to 84 ± 0.7 % showing that Ulva's cellulose fraction can be a promising candidate for biofuels production. This study presents a sustainable biorefinery approach that allows almost complete fractionation and bioconversion of green macroalgae, and integrates the concept of a circular bio-economy.

Nitrogen-containing acyclic, cyclic, and heterocyclic compounds and their derivatives have received increasing attention as a source of therapeutic agents. Oximes are an interesting class of Nitrogen-containing compounds possessing a wide variety of applications. Over the last decade, the interest in oximes and their derivatives has intensified. Many oxime derivatives using several preparation methods have been developed and evaluated for their biological activities. Due to their importance, oximes are subjected to many chemical transformations with the use of different chemicals to obtain numerous new derivatives. As a part of the continuing interest in oxime derivatives, we aim in this review to explore the green chemistry principles for the synthesis of oxime derivatives, as it offers promising pathways to more sustainable synthesis techniques that minimize waste and energy consumption and avoid hazardous methods. Additionally, it could inspire and stimulate researchers from various disciplines, such as chemists, biologists, and materials scientists to explore new applications for oximes derivatives.