Abstract
In the past decades, the advancement in system biology together with the expansion of analytical and biochemical techniques, pawed the way for investigating the complicated concept known as glycomics. The complexity and diversity of sugar chemical structures following the complex enzymatic biosynthesis, as well as all changes that take place in the glycome during growth, development and disease of the organism, have raised the interest in deciphering the glycan and glycoconjugate structure-to-function relationship and moreover, in profiling the glycome in view of potential disorder glycan biomarkers. The smallest modification within the normal degradation process of glycans causes a “domino effect”, hampering the subsequent degradation stages and finally, triggering specific disorders. This is also the case of the lysosomal storage disorders (LSDs), a heterogeneous group of inborn errors of metabolism caused by mutations in genes that encode mostly lysosomal hydrolases. The present paper summarizes relevant developments in the field of LSD investigation and diagnosis by employing various methodologies, such as fluorimetric assays and mass spectrometry (MS), with a particular emphasis on the detection and identification in a high throughput mode of various biomarkers in complex mixtures by high performance MS instruments, coupled with different microfluidic systems or with ion mobility spectrometry, the most proficient separation technique available nowadays. Monitoring biomarker expression in biological fluids is useful not just to measure the disease progression and to assess the most effective therapeutic regimens, but also to determine the susceptibility or recurrence degree of the disease.
Graphical Abstract
Call for Papers in Thematic Issues
Advances of Heterocyclic Chemistry with Pesticide Activity
Global food safety and security will continue to be a global concern for the next 50 years and beyond. Plant diseases have had a significant impact on food safety and security throughout the entire food chain, from primary production to consumption. While conventional chemical pesticides have been traditionally used for ...read more
Calculation design of covalent/metal organic framework based catalysts
This research area combines theoretical computation and screening with machine learning for the design of covalent/metal organic framework-based catalysts, bridging the disciplines of organic chemistry, physical chemistry, computational chemistry, materials science, and machine learning. It covers several critical aspects: designing and synthesizing organic catalysts for improved performance, applying computational methods ...read more
Carbohydrates conversion in biofuels and bioproducts
Biomass pretreatment, hydrolysis, and saccharification of carbohydrates, and sugars bioconversion in biofuels and bioproducts within a biorefinery framework. Carbohydrates derived from woody biomass, agricultural wastes, algae, sewage sludge, or any other lignocellulosic feedstock are included in this issue. Simulation, techno-economic analysis, and life cycle analysis of a biorefinery process are ...read more
Catalytic C-H bond activation as a tool for functionalization of heterocycles
The major topic is the functionalization of heterocycles through catalyzed C-H bond activation. The strategies based on C-H activation not only provide straightforward formation of C-C or C-X bonds but, more importantly, allow for the avoidance of pre-functionalization of one or two of the cross-coupling partners. The beneficial impact of ...read more
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