亨廷顿舞蹈症基因中的错误缓慢累积，然后突然全面爆发。 - Suppr

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Errors in the Huntington's disease gene accumulate slowly and then all at once.

作者信息

Rajagopal Veera M, Gelfman Sahar

出版信息

Nature. 2025 Mar;639(8055):584-586. doi: 10.1038/d41586-025-00717-9.

DOI:10.1038/d41586-025-00717-9

PMID:40102650

Abstract

摘要

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Errors in the Huntington's disease gene accumulate slowly and then all at once.

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本文引用的文献

Long somatic DNA-repeat expansion drives neurodegeneration in Huntington's disease.

Cell. 2025 Feb 6;188(3):623-639.e19. doi: 10.1016/j.cell.2024.11.038. Epub 2025 Jan 16.

Double setback for ASO trials in Huntington disease.

Nat Rev Drug Discov. 2021 Jun;20(6):412-413. doi: 10.1038/d41573-021-00088-6.

DNA Mismatch Repair and its Role in Huntington's Disease.

J Huntingtons Dis. 2021;10(1):75-94. doi: 10.3233/JHD-200438.

Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset.

Hum Mol Genet. 2009 Aug 15;18(16):3039-47. doi: 10.1093/hmg/ddp242. Epub 2009 May 23.

Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis.

Hum Mol Genet. 2003 Dec 15;12(24):3359-67. doi: 10.1093/hmg/ddg352. Epub 2003 Oct 21.

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.

Nat Genet. 1994 Apr;6(4):409-14. doi: 10.1038/ng0494-409.

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