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Article

A modifier of Huntington's disease onset at the MLH1 locus.

Human molecular genetics - 1 Oct 2017

Lee Jong-Min, Chao Michael J, Harold Denise, Abu Elneel Kawther, Gillis Tammy, Holmans Peter, Jones Lesley, Orth Michael, Myers Richard H, Kwak Seung, Wheeler Vanessa C, MacDonald Marcy E, Gusella James F

Abstract excerpt

Huntington's disease (HD) is a dominantly inherited neurodegenerative disease caused by an expanded CAG repeat in HTT. Many clinical characteristics of HD such as age at motor onset are determined largely by the size of HTT CAG repeat. However, emerging evidence strongly supports a role for other genetic factors in modifying the disease pathogenesis driven by mutant huntingtin. A recent genome-wide association...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28934397
DOI: 10.1093/hmg/ddx286
PMCID: PMC6455020

Genes

MLH1
HTT
LRRFIP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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