Title : IGSF3 mutation identified in patient with severe COPD alters cell function and motility.

Pub. Date : 2020 Jul 23

PMID : 32573489






8 Functional Relationships(s)
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1 Examination of COPDGene cohort identified 14 IGSF3 SNPs of which, rs1414272 and rs12066192 were directly- and rs6703791 inversely associated with COPD severity, including COPD exacerbations. copdgene immunoglobulin superfamily member 3 Homo sapiens
2 IGSF3-deficient patient-derived lymphoblastoids exhibited multiple alterations in gene expression, especially in the unfolded protein response and ceramide pathways. Ceramides immunoglobulin superfamily member 3 Homo sapiens
3 IGSF3-deficient lymphoblastoids had high ceramide- and sphingosine-1 phosphate-, but low glycosphingolipids- and gangliosides levels; were less apoptotic and more adherent; with marked changes in multiple TNFRSF molecules. Ceramides immunoglobulin superfamily member 3 Homo sapiens
4 IGSF3-deficient lymphoblastoids had high ceramide- and sphingosine-1 phosphate-, but low glycosphingolipids- and gangliosides levels; were less apoptotic and more adherent; with marked changes in multiple TNFRSF molecules. sphingosine 1-phosphate immunoglobulin superfamily member 3 Homo sapiens
5 IGSF3-deficient lymphoblastoids had high ceramide- and sphingosine-1 phosphate-, but low glycosphingolipids- and gangliosides levels; were less apoptotic and more adherent; with marked changes in multiple TNFRSF molecules. Glycosphingolipids immunoglobulin superfamily member 3 Homo sapiens
6 IGSF3-deficient lymphoblastoids had high ceramide- and sphingosine-1 phosphate-, but low glycosphingolipids- and gangliosides levels; were less apoptotic and more adherent; with marked changes in multiple TNFRSF molecules. Gangliosides immunoglobulin superfamily member 3 Homo sapiens
7 Similarly, IGSF3 knockdown increased ceramide in lung structural cells, rendering them more adherent, with impaired wound repair and a weakened barrier function. Ceramides immunoglobulin superfamily member 3 Homo sapiens
8 These findings suggest that, by maintaining sphingolipid and membrane receptor homeostasis, IGSF3 is required for cell mobility-mediated lung injury repair. Sphingolipids immunoglobulin superfamily member 3 Homo sapiens