PMS1 as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington’s disease

Huntington’s disease (HD) is a dominantly inherited neurodegenerative disorder whose motor, cognitive, and behavioral manifestations are caused by an expanded, somatically unstable CAG repeat in the first exon of HTT that lengthens a polyglutamine tract in huntingtin. Genome-wide association studies...

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Detalles Bibliográficos
Autores principales: McLean, Zachariah L., Gao, Dadi, Correia, Kevin, Roy, Jennie C. L., Shibata, Shota, Farnum, Iris N., Valdepenas-Mellor, Zoe, Rapuru, Manasa, Morini, Elisabetta, Ruliera, Jayla, Gillis, Tammy, Lucente, Diane, Kleinstiver, Benjamin P., Lee, Jong-Min, MacDonald, Marcy E., Wheeler, Vanessa C., Pinto, Ricardo Mouro, Gusella, James F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10402039/
https://www.ncbi.nlm.nih.gov/pubmed/37547003
http://dx.doi.org/10.1101/2023.07.25.550489

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10402039/
https://www.ncbi.nlm.nih.gov/pubmed/37547003
http://dx.doi.org/10.1101/2023.07.25.550489

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