Defective glycosylation leads to defective gp130-dependent STAT3 signaling in PGM3-deficient patients

Joint disease caused by defective gp130-mediated STAT signaling

IL-6 is a multifunctional cytokine produced by lymphoid and nonlymphoid cells; it regulates immune responses, acute-phase reactions, and inflammation. IL-6 signaling is mediated exclusively by the common signal-transducing component gp130, which is also essential for signal transduction of other cytokines of the leukemia inhibitory factor (LIF)/IL-6 family. M Ernst and colleagues generated and ...

DEFECTIVE NEUTROPHIL MOBILITY IN TEN PATIENTS WITH VITAMIN D-DEFICIENT RICKETS

We studied the immune system, especially the chemotactic activity of neutrophils, in ten patients with vitamin D-deficient rickets and compared the results with ten healthy controls of matched age. Among all immune system factors, the chemotactic studies persistantly showed remarkable deficiency in leukocyte mobility, both random motion and migration. When compared with controls, the findi...

Defective glycosylation of calsequestrin in heart failure.

OBJECTIVE Levels of Ca2+ regulatory proteins have been extensively analyzed in cardiomyopathies as possible indices of change in sarcoplasmic reticulum (SR) structure and function. Measures of calsequestrin (CSQ), however, a critical protein component of the Ca2+ release complex in junctional sarcoplasmic reticulum, have provided little or no evidence of underlying dysfunction. We previously re...

defective neutrophil mobility in ten patients with vitamin d-deficient rickets

we studied the immune system, especially the chemotactic activity of neutrophils, in ten patients with vitamin d-deficient rickets and compared the results with ten healthy controls of matched age. among all immune system factors, the chemotactic studies persistantly showed remarkable deficiency in leukocyte mobility, both random motion and migration. when compared with controls, the findings w...

Imperfect and defective outputs in production process