11 posts found

The MECP2 gene and its role in the Rett syndrome

The Rett syndrome (RTT) is a neurological disorder caused by mutations which occur in the gene MECP2 (methyl-CpG-binding protein 2). This gene is located on the X chromosome, and the RTT affects only females – 1 every 10,000 – because the mutation of MECP2 in males is not viable. However, some isolated cases of boys […]

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Brain lactate levels increase in adolescents with depression

The Major Depressive Disorder (MDD) is an important issue for public health. It often appears during the adolescence, and, among the related consequences, suicide is the second cause of death in this age group. Despite its social relevance, however, MDD is far to be understood, and there is some lack of information about its early […]

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Truncated glycine transporter 1 causes a novel subtype of NKH

Glycine is the simplest amino acid and a fundamental neurotransmitter in the central nervous system (CNS). Its activity is mainly inhibitory in caudal regions of CNS, but it also has a co-agonist role at a specific subtype of glutamate receptors present throughout the CNS. Extracellular glycine levels are regulated by two types of transporters, called […]

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First case of hyperglycinemia due to a glycine transporter dysfunction

Glycine is one of the 20 amino acids that constitute the structure of proteins. In addition to that, glycine takes an active part in the synthesis of other molecules such as serine, heme, purine, creatine, and glutathione. Also, it acts as an inhibitory neurotransmitter in the central nervous system (CNS). Two main control systems regulate […]

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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 […]

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