GSBS Student Publications

Title

Molecular analysis of synapsin I, a candidate gene for Rett syndrome

GSBS Program

Biochemistry & Molecular Pharmacology

Publication Date

1987-01-01

UMMS Affiliation

Graduate School of Biomedical Sciences; Department of Neurology and Cell Biology

Document Type

Article

Disciplines

Life Sciences | Medicine and Health Sciences

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.

DOI of Published Version

10.1016/S0387-7604(87)80066-9

Source

Brain Dev. 1987;9(5):469-74.

Journal/Book/Conference Title

Brain and development

Related Resources

Link to article in PubMed

PubMed ID

3124657

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