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Article

Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels.

Human molecular genetics - 1 Apr 2017

Shin Aram, Shin Baehyun, Shin Jun Wan, Kim Kyung-Hee, Atwal Ranjit S, Hope Jennifer M, Gillis Tammy, Leszyk John D, Shaffer Scott A, Lee Ramee, Kwak Seung, MacDonald Marcy E, Gusella James F, Seong Ihn Sik, Lee Jong-Min

Abstract excerpt

Huntington's disease (HD) reflects dominant consequences of a CAG repeat expansion mutation in HTT. Expanded CAG repeat size is the primary determinant of age at onset and age at death in HD. Although HD pathogenesis is driven by the expanded CAG repeat, whether the mutation influences the expression levels of mRNA and protein from the disease allele is not clear due to the lack of sensitive allele-specific...

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Identifiers

PMID: 28165127
DOI: 10.1093/hmg/ddx033
PMCID: PMC6075029

Genes

HTT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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