Topic: glycosaminoglycans

The brain extracellular matrix (ECM) provides a physical framework and biochemical milieu for early (embryonic) morphogenetic and later (fetal and neonatal) histogenetic events. The specific ECM constituents and their dynamic spatial and temporal distribution at transcriptomics and protein levels were researched using RNAseq analysis and immunohistochemistry in 200 postmortem fetal and postnatal human brains. The ECM is especially prominent in the transiently voluminous histogenetic zones such as the neocortical preplate, subplate, and marginal zone. Still, it is also present in the smaller de

Lysosomal storage disorders (LSD) are a group of rare inherited metabolic disorders caused by defects in lysosomal function. Among these, Mucopolysaccharidoses (MPS) are characterized by the loss of function of lysosomal enzymes responsible for the degradation of glycosaminoglycans (GAGs). This defect leads to the production, at the cellular level, of secondary storages comprised of undegraded proteins. In some of these syndromes, this translates into a neurodegenerative phenotype with pediatric dementia. Promoting the degradation of secondary storages is one of the most promising therapeutic