Validated assays for the quantification of C9orf72 human pathology

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...

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Main Authors: S. E. Salomonsson, A. M. Maltos, K. Gill, O. Aladesuyi Arogundade, K. A. Brown, A. Sachdev, M. Sckaff, K. J. K. Lam, I. J. Fisher, R. S. Chouhan, V. S. Van Laar, C. B. Marley, I. McLaughlin, K. S. Bankiewicz, Y.-C. Tsai, B. R. Conklin, C. D. Clelland
Format: Article
Language:English
Published: Nature Portfolio 2024-01-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-023-50667-3

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