Intracellular signaling is essential for development, differentiation, survival and plasticity. G Proteins, Cyclic Nucleotides, Calcium, Phosphoinositides, Phosphorylation of different amino acids and Transcription Factors, are the main ways by which cells establish intracellular signaling in the nervous system. In this section you will find information about how these pathways are affected in different neuropaediatric disorders.
Impairment of the macroautophagy: a possible hallmark of the Rett syndrome The Rett syndrome (RTT) is a neurodevelopmental disorder that affects 1 out of 10,000 girls. They present a neurodevelopment disruption affecting language, cognition and motor function. The RTT is caused, in the 90 – 95% of the cases, by mutations of MECP2, a gene that controls the transcription of other genes. A team of scientists […]
STXBP1 protein as a therapeutic target for Epileptic Encephalopathy The epileptic encephalopathies (EEs) are characterized by frequent seizures and cognitive and behavioral impairment. The presence of the mental handicap is a signal that the EEs origin during the neuronal development, so that, even if the seizure can be controlled by using available anti-epileptic drugs, the cognitive impairment cannot be stopped with the current treatments. […]
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 […]
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 […]
Microtubule transport system: a highway between neuronal cell body and synapses Neuronal cells have developed a characteristic shape, which causes that the distance between the cell body and the synapses is often very long. Therefore, they have a complex and efficient system to transport many proteins from the center to the periphery, and vice versa. The process of transport of proteins from the cell body to […]
Connecting the growing brain network of specialised clinicians and researchers. People and labs around the world with the aim to understand the developing brain through synaptic communication.
