期刊
NEURON
卷 101, 期 5, 页码 801-819出版社
CELL PRESS
DOI: 10.1016/j.neuron.2019.01.039
关键词
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资金
- Medical Research Council UK
- Wellcome Trust [200181/Z/15/Z]
- Rosetrees Trust
- Takeda Pharmaceuticals
- Cantervale Limited
- NIHR North Thames Local Clinical Research Network
- UK Dementia Research Institute
- Wolfson Foundation for Neurodegeneration
- CHDI Foundation
- Medical Research Council, United Kingdom
- Canadian Institutes of Health Research
- Huntington Society of Canada
- Teva
- uniQure
- Lifemax
- MRC [MR/K023268/1, UKDRI-1008/2] Funding Source: UKRI
Huntington's disease is caused by an abnormally expanded CAG repeat expansion in the HTT gene, which confers a predominant toxic gain of function in the mutant huntingtin (mHTT) protein. There are currently no disease-modifying therapies available, but approaches that target proximally in disease pathogenesis hold great promise. These include DNA-targeting techniques such as zinc-finger proteins, transcription activator-like effector nucleases, and CRISPR/Cas9; post-transcriptional huntingtin-lowering approaches such as RNAi, antisense oligonucleotides, and small-molecule splicing modulators; and novel methods to clear the mHTT protein, such as proteolysis-targeting chimeras. Improvements in the delivery and distribution of such agents as well as the development of objective biomarkers of disease and of HTT lowering pharmacodynamic outcomes have brought these potential therapies to the forefront of Huntington's disease research, with clinical trials in patients already underway.
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