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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Synaptic metabolism
Synaptic metabolism course
A course about synaptic metabolism of the Recordati Rare Disease Foundation will be held in Barcelona, Spain, on November 16 – 18, 2017. Participants are expected to have prior knowledge about the field: practical experience with diagnosis treatment, and/or basic research is recommended. Participants are also expected to present a case report relevant to the theme […]
Disruption of active zone affects synaptic vesicles only partially
The active zones are specific sites of presynaptic terminals where the docking and the release of synaptic vesicles occur. They are complex, organized protein structures that anchor synaptic vesicles to the plasma membrane. Once bound to the active zone and docked to the plasma membrane, synaptic vesicles can properly respond to the changes of action […]
Adenosine receptors may help neuronal regeneration
A fundamental step in neuronal development is constituted by the axonal growth and the dendritic branching. Many intra- and extra-cellular signals regulate this process, indeed is very important that the growth of neuronal extremities follow a precise direction in order to reach their target cells. The distal tip of the axon is a specialized structure […]
Synapses dysfunction and synaptopathies
The concept of synaptopathy refers to any brain disorder related with the impairment of synaptic junctions. Indeed, this definition does not really distinguish whether synaptic dysfunction is the cause or the consequence of such disorders, and often knowing where and when the onset of a disease occurs it is not clear. What is clear is […]
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