Somatic CAG expansion in Huntington's disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection

Somatic expansion of the CAG repeat tract that causes Huntington's disease (HD) is thought to contribute to the rate of disease pathogenesis. Therefore, factors influencing repeat expansion are potential therapeutic targets. Genes in the DNA mismatch repair pathway are critical drivers of somat...

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Gepubliceerd in:Nucleic Acids Res
Hoofdauteurs: Roy, Jennie C L, Vitalo, Antonia, Andrew, Marissa A, Mota-Silva, Eduarda, Kovalenko, Marina, Burch, Zoe, Nhu, Anh M, Cohen, Paula E, Grabczyk, Ed, Wheeler, Vanessa C, Mouro Pinto, Ricardo
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2021
Onderwerpen:
Genome Integrity, Repair and Replication
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8053082/
https://ncbi.nlm.nih.gov/pubmed/33751106
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkab152
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