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Enrichment of <i>SARM1</i> alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders

2021-06-17

Abstract excerpt

<h4>ABSTRACT</h4> SARM1, a protein with critical NADase activity, is a central executioner in a conserved programme of axon degeneration. We report seven rare missense or in-frame microdeletion human SARM1 variant alleles in patients with amyotrophic lateral sclerosis (ALS) or other motor nerve disorders that alter the SARM1 auto-inhibitory ARM domain and constitutively hyperactivate SARM1 NADase activity. The c...

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Literature Corpus work
7afa681a-65ae-5ab0-b216-594916c6baf7
DOI
10.1101/2021.06.17.21258268
Open publication

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Enrichment of <i>SARM1</i> alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disordersDOI 10.1101/2021.06.17.21258268
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