Browsing by keyword "Amino Acid Sequence; Animals; Base Sequence; Brain Diseases; DNA; Female; Humans; Mental Retardation; Molecular Sequence Data; Nerve Tissue Proteins; Rats; Synapsins; Syndrome; X Chromosome"

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    • Molecular analysis of synapsin I, a candidate gene for Rett syndrome
      DeGennaro, Louis J.; McCaffery, Cheryl A.; Kirchgessner, Cordula U.; Yang-Feng, Teresa L.; Francke, Uta (1987-01-01)
      The characteristics of Rett syndrome suggest that it is an X-linked neurodegenerative disorder. Laboratory investigations to date have not revealed any metabolic abnormalities in affected individuals. Synapsin I is a neuron-specific protein thought to play a fundamental role in neuronal function. In this report we summarize the circumstantial evidence suggesting that a defect in synapsin I gene structure or expression might be involved in Rett syndrome. This evidence includes analysis of structural and functional aspects of synapsin I primary structure, characterization of synapsin I messenger RNAs, location of the synapsin I gene on the human X chromosome and preliminary analysis of synapsin I gene structure in Rett individuals.