Ontology highlight
ABSTRACT:
SUBMITTER: Guzzetti S
PROVIDER: S-EPMC5979575 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
Guzzetti Sara S Calzari Luciano L Buccarello Lucia L Cesari Valentina V Toschi Ivan I Cattaldo Stefania S Mauro Alessandro A Pregnolato Francesca F Mazzola Silvia Michela SM Russo Silvia S
International journal of molecular sciences 20180405 4
Angelman syndrome (AS, MIM 105830) is a rare neurodevelopmental disorder affecting 1:10-20,000 children. Patients show moderate to severe intellectual disability, ataxia and absence of speech. Studies on both post-mortem AS human brains and mouse models revealed dysfunctions in the extra synaptic gamma-aminobutyric acid (GABA) receptors implicated in the pathogenesis. Taurine is a free intracellular sulfur-containing amino acid, abundant in brain, considered an inhibiting neurotransmitter with n ...[more]