Article

Loss of nucleoporin Nup50 is a risk factor for amyotrophic lateral sclerosis

2021-08-25

Abstract excerpt

The genetic basis of amyotrophic lateral sclerosis (ALS) is still incompletely understood. Using two independent genetic strategies, we show here that a large part of ALS heritability lies in genes expressed in inhibitory and excitatory neurons, especially at splicing sites regulated by a defined set of RNA binding proteins including TDP-43 and FUS. We conducted a transcriptome wide association study (TWAS) and id...

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Identifiers and source

Literature Corpus work: 6097f821-6bed-536b-a677-c6c042338d7c
DOI: 10.1101/2021.08.23.21262299

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