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Quantifying mutant huntingtin protein in human cerebrospinal fluid to support the development of huntingtin-lowering therapies

Huntington’s disease (HD) is caused by a cytosine adenine guanine-repeat expansion in the huntingtin gene. This results in the production of toxic mutant huntingtin protein (mHTT), which has an elongated polyglutamine (polyQ) stretch near the protein’s N-terminal end. The pharmacological lowering of...

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Detalles Bibliográficos
Autores principales: Vauleon, Stephanie, Schutz, Katharina, Massonnet, Benoit, Gruben, Nanda, Manchester, Marianne, Buehler, Alessandra, Schick, Eginhard, Boak, Lauren, Hawellek, David J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10067853/
https://www.ncbi.nlm.nih.gov/pubmed/37005488
http://dx.doi.org/10.1038/s41598-023-32630-4