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Loss of GalNAc-T14 links O-glycosylation defects to alterations in B cell homing in IgA nephropathy

18 Mar 2025

Abstract excerpt

Aberrant O-glycosylation of the IgA1 hinge region is a characteristic finding in patients with IgA nephropathy (IgAN) and is thought to contribute to immune-complex formation and kidney injury. Other studies have suggested that abnormalities in mucosal immunity and lymphocyte homing are major contributors to disease. We identified a family with IgAN segregating a heterozygous predicted loss-of-function (LOF)...

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PMID: 40153534
DOI: 10.1172/jci181164

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