Canadian Association of Neurosciences Review: polyglutamine expansion neurodegenerative diseases.
作者： Ray Truant , Lynn A. Raymond , Jianrun Xia , Deborah Pinchev , Anjee Burtnik
DOI: 10.1017/S031716710000514X
关键词:
摘要: Since the early 1990s, DNA triplet repeat expansions have been found to be cause in an ever increasing number of genetic neurologic diseases. A subset this large family diseases has expansion a CAG open reading frame coding exon. The result is expression expanded glutamine amino acid tracts affected proteins, leading term, Polyglutamine Diseases, which applied sub-family To date, nine distinct genes are known linked polyglutamine diseases, including Huntington's disease, Machado-Joseph Disease and spinobulbar muscular atrophy or Kennedy's disease. Most characterized clinically as spinocerebellar ataxias. Here we discuss recent successes advancements disease research, comparing these different with common flaw at level molecular biology drug design for where many new research tools disorders developed. successfully used interdisciplinary collaborative efforts, informative multiple mouse models advanced pharmaceutical industry potentially serve prototype model therapeutic development rare neurodegenerative
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