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Constitutively active SARM1 variants that induce neuropathy are enriched in ALS patients

6 Jan 2022

Abstract excerpt

Abstract Background In response to injury, neurons activate a program of organized axon self-destruction initiated by the NAD + hydrolase, SARM1. In healthy neurons SARM1 is autoinhibited, but single amino acid changes can abolish autoinhibition leading to constitutively active SARM1 enzymes that promote degeneration when expressed in cultured neurons. Methods To investigate whether naturally occurring human...

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PMID: 34991663
DOI: 10.1186/s13024-021-00511-x

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