Molecular analysis of synapsin I, a candidate gene for Rett syndrome
Biochemistry & Molecular Pharmacology
Graduate School of Biomedical Sciences; Department of Neurology and Cell Biology
Life Sciences | Medicine and Health Sciences
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.
DOI of Published Version
Brain Dev. 1987;9(5):469-74.
Brain and development
DeGennaro LJ, McCaffery CA, Kirchgessner CU, Yang-Feng TL, Francke U. (1987). Molecular analysis of synapsin I, a candidate gene for Rett syndrome. GSBS Student Publications. https://doi.org/10.1016/S0387-7604(87)80066-9. Retrieved from https://escholarship.umassmed.edu/gsbs_sp/266