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 […]
25 posts found
Neurotransmitters
Central Serotonin Receptor 7 constitutes a potential therapeutic target for Rett Syndrome
Rett syndrome is a neurodevelopment disorder affecting around 1 out of 10,000 girls, usually due to de novo mutations in the X-located gene MECP2. It is a complex disorder, both clinically and at a molecular level, and is typically characterized by a neurodevelopment regression starting at age 6 to 18 months after a normal early […]
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 […]
2nd Conference on Neurotransmitter Diseases
Next 25th March 2017, “DeNeu“, the Spanish association of neurotransmitter defects, organizes a meeting in Barcelona (see the program here) that will bring together families, medical doctors and researchers. Neurotransmitter disorders are rare diseases that affect brain functioning due to alterations in molecules such as dopamine, serotonin, GABA, glycine, glutamate, serine and others. Neurological symptoms due to these defects are diverse […]
Modulation of inhibitory networks by gephyrin
The glycinergic and the GABAergic neurotransmission are essential inhibitory networks. Glycinergic synapses are mostly present in the spinal cord, brainstem and retina, while GABAergic synapses are preponderant in the fore-brain. Anyway, both types of receptors are often together at post-synaptic regions, thus regulating the neurotransmission at the same time but with different action mechanisms. GABAA […]
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