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Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out.

Human molecular genetics - 4 Nov 2020

Loupe Jacob M, Pinto Ricardo Mouro, Kim Kyung-Hee, Gillis Tammy, Mysore Jayalakshmi S, Andrew Marissa A, Kovalenko Marina, Murtha Ryan, Seong IhnSik, Gusella James F, Kwak Seung, Howland David, Lee Ramee, Lee Jong-Min, Wheeler Vanessa C, MacDonald Marcy E

Abstract excerpt

Recent genome-wide association studies of age-at-onset in Huntington's disease (HD) point to distinct modes of potential disease modification: altering the rate of somatic expansion of the HTT CAG repeat or altering the resulting CAG threshold length-triggered toxicity process. Here, we evaluated the mouse orthologs of two HD age-at-onset modifier genes, FAN1 and RRM2B, for an influence on somatic instability of...

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Identifiers

PMID: 32876667
DOI: 10.1093/hmg/ddaa196
PMCID: PMC7645713

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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