Molecular analysis of synapsin I, a candidate gene for Rett syndrome
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Authors
DeGennaro, Louis J.McCaffery, Cheryl A.
Kirchgessner, Cordula U.
Yang-Feng, Teresa L.
Francke, Uta
UMass Chan Affiliations
Department of Neurology and Cell BiologyGraduate School of Biomedical Sciences
Document Type
Journal ArticlePublication Date
1987-01-01Keywords
Amino Acid Sequence; Animals; Base Sequence; Brain Diseases; DNA; Female; Humans; Mental Retardation; Molecular Sequence Data; Nerve Tissue Proteins; Rats; Synapsins; Syndrome; X ChromosomeLife Sciences
Medicine and Health Sciences
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Show full item recordAbstract
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.Source
Brain Dev. 1987;9(5):469-74.
DOI
10.1016/S0387-7604(87)80066-9Permanent Link to this Item
http://hdl.handle.net/20.500.14038/33596PubMed ID
3124657Related Resources
ae974a485f413a2113503eed53cd6c53
10.1016/S0387-7604(87)80066-9