Huntington's Disease and Other Polyglutamine Repeat Diseases: Molecular Mechanisms and Pathogenic Pathways. Molecular Mechanisms and Pathogenic Pathways.
Polyglutamine diseases are inherited, fatal neurodegenerative disorders caused by genomic expansion of exonic cytosine-adenine-guanine (CAG) trinucleotide repeats. These diseases include Huntington's disease, spinal and bulbar muscular atrophy, dentatorubral-pallidoluysian atrophy, and spinocerebellar ataxia types 1, 2, 3, 6, 7, and 17, each due to CAG expansion in a different gene. Common themes regarding mechanisms of neurodegeneration include protein aggregation, intracellular protein degradation systems, proteolytic processing, mitochondrial dysfunction, nuclear trafficking and subcellular localization, transcriptional dysregulation, and posttranslational modifications. Strategies for developing therapeutics for this class of neurodegenerative diseases include RNA interference, antisense oligonucleotides, zinc finger proteins, and genome editing.
- The Molecular and Cellular Basis of Neurodegenerative Diseases: Underlying Mechanisms
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International Standard Book Number 13 (ISBN-13)
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