Article

HD mutation results in a dominant negative effect on HTT function

2023-06-26

Abstract excerpt

Huntington’s disease (HD) remains an incurable and fatal neurodegenerative disease long after CAG-expansion mutation in the huntingtin gene (HTT) was identified as the cause. The underlying pathological mechanism, whether HTT loss of function or gain of toxicity results from mutation, remains a matter of debate. In this study, we genetically modulated wild-type or mutant HTT expression levels in isogenic human emb...

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Literature Corpus work: 327275de-156d-50de-abbb-cd15ca0c5f7a
DOI: 10.1101/2023.06.26.543767

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