Article

TOM1 G307D variant alters interaction with TOLLIP impairing autophagosome-lysosome fusion and regulation of innate immunity

2024-04-05

Abstract excerpt

<title>Abstract</title> <p>Our study uncovers for the first time the role of TOM1-TOLLIP interaction in the regulation of the human immune system. A recently described G307D variant in the GAT domain of the endosomal adaptor protein TOM1 causes severe early-onset multiorgan autoimmunity and features of combined immunodeficiency. Through a combination of biophysical, biochemical, and cell culture experiments, we s...

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Literature Corpus work: 67742078-089a-5771-b001-280cedb7eb85
DOI: 10.21203/rs.3.rs-4116409/v1

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