DeGennaro, Louis J.McCaffery, Cheryl A.Kirchgessner, Cordula U.Yang-Feng, Teresa L.Francke, Uta2022-08-232022-08-231987-01-012008-08-29<p>Brain Dev. 1987;9(5):469-74.</p>0387-7604 (Print)10.1016/S0387-7604(87)80066-93124657https://hdl.handle.net/20.500.14038/33596The 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.en-USJournal Articlehttps://escholarship.umassmed.edu/gsbs_sp/266610009gsbs_sp/266