C9ORF72 suppresses JAK-STAT mediated inflammation.
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ABSTRACT:
SUBMITTER: Pang W
PROVIDER: S-EPMC10214391 | biostudies-literature | 2023 May
REPOSITORIES: biostudies-literature
Publications
Hexanucleotide repeat expansion in the gene <i>C9ORF72</i> is a leading cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). C9ORF72 deficiency leads to severe inflammatory phenotypes in mice, but exactly how C9ORF72 regulates inflammation remains to be fully elucidated. Here, we report that loss of C9ORF72 leads to the hyperactivation of the JAK-STAT pathway and an increase in the protein levels of STING, a transmembrane adaptor protein involved in immune s ...[more]
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