Molecular analysis of synapsin I, a candidate gene for Rett syndrome
| dc.contributor.author | DeGennaro, Louis J. | |
| dc.contributor.author | McCaffery, Cheryl A. | |
| dc.contributor.author | Kirchgessner, Cordula U. | |
| dc.contributor.author | Yang-Feng, Teresa L. | |
| dc.contributor.author | Francke, Uta | |
| dc.date | 2022-08-11T08:08:57.000 | |
| dc.date.accessioned | 2022-08-23T16:13:19Z | |
| dc.date.available | 2022-08-23T16:13:19Z | |
| dc.date.issued | 1987-01-01 | |
| dc.date.submitted | 2008-08-29 | |
| dc.identifier.citation | <p>Brain Dev. 1987;9(5):469-74.</p> | |
| dc.identifier.issn | 0387-7604 (Print) | |
| dc.identifier.doi | 10.1016/S0387-7604(87)80066-9 | |
| dc.identifier.pmid | 3124657 | |
| dc.identifier.uri | http://hdl.handle.net/20.500.14038/33596 | |
| dc.description.abstract | 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. | |
| dc.language.iso | en_US | |
| dc.relation | <p><a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=3124657&dopt=Abstract ">Link to article in PubMed</a></p> | |
| dc.relation.url | https://doi.org/10.1016/S0387-7604(87)80066-9 | |
| dc.subject | Amino Acid Sequence; Animals; Base Sequence; Brain Diseases; DNA; Female; Humans; Mental Retardation; Molecular Sequence Data; Nerve Tissue Proteins; Rats; Synapsins; Syndrome; X Chromosome | |
| dc.subject | Life Sciences | |
| dc.subject | Medicine and Health Sciences | |
| dc.title | Molecular analysis of synapsin I, a candidate gene for Rett syndrome | |
| dc.type | Journal Article | |
| dc.source.journaltitle | Brain and development | |
| dc.source.volume | 9 | |
| dc.source.issue | 5 | |
| dc.identifier.legacycoverpage | https://escholarship.umassmed.edu/gsbs_sp/266 | |
| dc.identifier.contextkey | 610009 | |
| html.description.abstract | <p>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.</p> | |
| dc.identifier.submissionpath | gsbs_sp/266 | |
| dc.contributor.department | Department of Neurology and Cell Biology | |
| dc.contributor.department | Graduate School of Biomedical Sciences | |
| dc.source.pages | 469-74 |
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