Article

Macrophage depletion blocks congenital SARM1-dependent neuropathy

2022-03-01

Abstract excerpt

<h4>ABSTRACT</h4> Axon loss contributes to many common neurodegenerative disorders. In healthy axons, the axon survival factor NMNAT2 inhibits SARM1, the central executioner of programmed axon degeneration. We identified two rare NMNAT2 missense variants in two brothers afflicted with a progressive neuropathy syndrome. The polymorphisms result in amino acid substitutions, V98M and R232Q, which reduce NMNAT2 NAD...

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Literature Corpus work: b78b69fd-3cf2-5da4-a2ed-d5a882616781
DOI: 10.1101/2022.02.26.482110

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