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- W4310264367 abstract "Neurodegenerative diseases that affect the motor neurons, including amyotrophic lateral sclerosis (ALS), have little treatment options and are generally rapidly fatal (1, 2). We harnessed the power of unbiased, whole transcriptome differential gene expression analysis, utilizing primary patient cells and tissues to discover genes whose expression defines ALS using published data (3, 4). We found significant differential expression of CCBE1, encoding collagen- and calcium-binding EGF domains 1, in the iPSC-derived primary motor neurons of patients with ALS. CCBE1 was also differentially expressed in the skeletal muscle of patients with ALS. CCBE1 transcript was present at lower levels in iPSC-derived ALS patient motor neurons as compared to control motor neurons. These analyses will begin to define the transcriptional landscape of ALS." @default.
- W4310264367 created "2022-11-30" @default.
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- W4310264367 date "2022-11-27" @default.
- W4310264367 modified "2023-09-23" @default.
- W4310264367 title "Differential expression of CCBE1 in amyotrophic lateral sclerosis." @default.
- W4310264367 doi "https://doi.org/10.31219/osf.io/uemk3" @default.
- W4310264367 hasPublicationYear "2022" @default.
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