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Macrophage depletion blocks congenital SARMI-dependent neuropathy

Macrophage depletion blocks congenital SARMI-dependent neuropathy

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A730549309

Macrophage depletion blocks congenital SARMI-dependent neuropathy

About this item

Full title

Macrophage depletion blocks congenital SARMI-dependent neuropathy

Publisher

American Society for Clinical Investigation

Journal title

The Journal of clinical investigation, 2022-12, Vol.132 (23)

Language

English

Formats

Publication information

Publisher

American Society for Clinical Investigation

More information

Scope and Contents

Contents

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 2 rare NMNAT2 missense variants in 2 brothers afflicted with a progressive neuropathy syndrome. The polymorphisms resulted in amino acid substituti...

Alternative Titles

Full title

Macrophage depletion blocks congenital SARMI-dependent neuropathy

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_gale_infotracmisc_A730549309

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A730549309

Other Identifiers

ISSN

0021-9738

DOI

10.1172/JCI159800

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