Article
Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders.
eLife - 19 Nov 2021
Gilley Jonathan, Jackson Oscar, Pipis Menelaos, Estiar Mehrdad A, Al-Chalabi Ammar, Danzi Matt C, van Eijk Kristel R, Goutman Stephen A, Harms Matthew B, Houlden Henry, Iacoangeli Alfredo, Kaye Julia, Lima Leandro, Ravits John, Rouleau Guy A, Schüle Rebecca, Xu Jishu, Züchner Stephan, Cooper-Knock Johnathan, Gan-Or Ziv, Reilly Mary M, Coleman Michael P
Abstract excerpt
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 constitutive NADase...
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