Pub. Date : 1994
PMID : 8190020
2 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
1 | Three neurodegenerative diseases, Huntington"s disease (HD), Kennedy"s disease (hereditary spinobulbar muscular atrophy, SBMA), and type 1 spinocerebellar ataxia (SCA-1) have been found to share a common genetic defect: an unstable region of repeated CAG trinucleotides which are thought to be translated into a polyglutamine moiety. | polyglutamine | ataxin 1 | Homo sapiens |
2 | These products, in part consisting of abnormally large polyglutamine moieties, act to disturb the cellular and mitochondrial milieu such that energy metabolism is impaired, rendering specific regions of the nervous system vulnerable, and resulting in the clinical phenotypes of HD, SBMA, and SCA-1. | polyglutamine | ataxin 1 | Homo sapiens |