Cellular trafficking is essential to maintain critical biological functions. Mutations in 346 genes, most of them described in the last 5 years, are associated with disorders of cellular trafficking. Whereas initially restricted to membrane trafficking, the recent detection of many diseases has contributed to the discovery of new biological pathways. Accordingly, this article propose […]
24 posts found
Cellular neurochemistry
D-Serine dietary supplement as a therapeutic strategy against Rett-like severe encephalopathy: a case study
Here we present the abstract from a recently published article on a Rett-like encephalopathy case study, with the participation of the scientific team of the Hospital Sant Joan de Déu.
New roles of microglia in brain pathophysiology
Microglia cells represent, depending on the species, from 5% to 20% of the glial cells in the adult brain. It is commonly accepted that microglia precursors originate in the yolk sac – as the tissue specific macrophages – although their identity has not been confirmed so far. Once the development of the blood-brain barrier is […]
Anti-inflammatory drugs can reverse synaptic defects
Inflammation modifies risk and/or severity of a variety of brain diseases through still elusive molecular mechanisms. Tomasoni et al. (open access article available at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370184/) show that hyperactivation of the interleukin 1 pathway, through either removal of the interleukin 1 receptor 8 (IL-1R8,) or activation of IL-1R, leads to up-regulation of the mTOR pathway and […]
The diseases of the synaptic vesicles open the way to a new group of neurometabolic diseases
The Inborn Errors of Metabolism (IEM) have normally been considered as the result of errors at the genetic level affecting the biochemical pathways of small molecules such as the neurotransmitters glycine, glutamate, GABA, biogenic amines, etc. The altered concentration of such molecules in the Cerebrospinal Fluid (CSF) have always been used as a diagnostic biomarker […]
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