Validated assays for the quantification of C9orf72 human pathology
Abstract A repeat expansion mutation in the C9orf72 gene is the leading known genetic cause of FTD and ALS. The C9orf72-ALS/FTD field has been plagued by a lack of reliable tools to monitor this genomic locus and its RNA and protein products. We have validated assays that quantify C9orf72 pathobiolo...
Main Authors: | , , , , , , , , , , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Nature Portfolio
2024-01-01
|
Series: | Scientific Reports |
Online Access: | https://doi.org/10.1038/s41598-023-50667-3 |