Article
Identifying FUS amyotrophic lateral sclerosis disease signatures in patient dermal fibroblasts.
Developmental cell - 19 Aug 2024
Kumbier Karl, Roth Maike, Li Zizheng, Lazzari-Dean Julia, Waters Christopher, Hammerlindl Sabrina, Rinaldi Capria, Huang Ping, Korben Vlad A, Phatnani Hemali, Shneider Neil, Jacobson Matthew P, Wu Lani F, Altschuler Steven J
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a rapidly progressing, highly heterogeneous neurodegenerative disease, underscoring the importance of obtaining information to personalize clinical decisions quickly after diagnosis. Here, we investigated whether ALS-relevant signatures can be detected directly from biopsied patient fibroblasts. We profiled familial ALS (fALS) fibroblasts, representing a range of mutations...
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