Article

Constitutively active <i>SARM1</i> variants found in ALS patients induce neuropathy

2021-04-16

Abstract excerpt

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. To investigate whether naturally-occurring human variants might similarly disrupt...

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Literature Corpus work: d36cf366-70c7-514f-8f48-2cfc50cdd197
DOI: 10.1101/2021.04.16.439886

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