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Mutant huntingtin protein decreases with CAG repeat expansion: implications for therapeutics and bioassays

1 Jan 2024

Abstract excerpt

Abstract Huntington’s disease is an inherited neurodegenerative disorder caused by a CAG repeat expansion that encodes a polyglutamine tract in the huntingtin (HTT) protein. The mutant CAG repeat is unstable and expands in specific brain cells and peripheral tissues throughout life. Genes involved in the DNA mismatch repair pathways, known to act on expansion, have been identified as genetic modifiers; therefore,...

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PMID: 39713241
DOI: 10.1093/braincomms/fcae410

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