Interruptions impact clinical features of repeat expansion diseases, but how are they gained and lost?
Authors:
Open Access
- 30 August 2025
- journal article
- review article
- Published by Elsevier in Trends in Genetics
- Vol. 41 (12) , 1056-1067
Abstract
No abstract availableKeywords
Funding Information
- Medical Research Council (MR/X02184X/1)
- UK Dementia Research Institute (DRI-3204)
This publication has 56 references indexed in Scilit:
- Distinct mismatch-repair complex genes set neuronal CAG-repeat expansion rate to drive selective pathogenesis in HD miceCell, 2025
- Long somatic DNA-repeat expansion drives neurodegeneration in Huntington’s diseaseCell, 2025
- The frequency and clinical impact of synonymous HTT loss-of-interruption and duplication-of-interruption variants in a diverse HD cohortGenetics in Medicine, 2024
- DNA polymerase θ promotes CAG•CTG repeat expansions in Huntington’s disease via insertion sequences of its catalytic domainJournal of Biological Chemistry, 2021
- Structure-forming repeats and their impact on genome stabilityCurrent Opinion in Genetics & Development, 2021
- A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomesEBioMedicine, 2019
- CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease OnsetCell, 2019
- Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington DiseaseThe American Journal of Human Genetics, 2019
- MAR‐Mediated transgene integration into permissive chromatin and increased expression by recombination pathway engineeringBiotechnology and Bioengineering, 2016
- Role of DNA Polymerases in Repeat-Mediated Genome InstabilityCell Reports, 2012