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Article

Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.

Human molecular genetics - 26 Apr 2021

Jung Roy, Lee Yejin, Barker Douglas, Correia Kevin, Shin Baehyun, Loupe Jacob, Collins Ryan L, Lucente Diane, Ruliera Jayla, Gillis Tammy, Mysore Jayalakshmi S, Rodan Lance, Picker Jonathan, Lee Jong-Min, Howland David, Lee Ramee, Kwak Seung, MacDonald Marcy E, Gusella James F, Seong Ihn Sik

Abstract excerpt

Huntington's disease pathogenesis involves a genetic gain-of-function toxicity mechanism triggered by the expanded HTT CAG repeat. Current therapeutic efforts aim to suppress expression of total or mutant huntingtin, though the relationship of huntingtin's normal activities to the gain-of-function mechanism and what the effects of huntingtin-lowering might be are unclear. Here, we have re-investigated a rare...

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Identifiers

PMID: 33432339
DOI: 10.1093/hmg/ddaa283
PMCID: PMC8248964

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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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