Pathogenic variant c.1052t>a (p.leu351gln) in adenosine deaminase 2 impairs secretion and elevates type i ifn responsive gene expression

HIGHLIGHTS

• who: Sarah M. Bowers and colleagues from the University of East Anglia, United Kingdom have published the article: Pathogenic variant c.1052T>A (p.Leu351Gln) in adenosine deaminase 2 impairs secretion and elevates type I IFN responsive gene expression, in the Journal: (JOURNAL)
• what: Consistent with these observations, the authors demonstrate herein that total block of N-linked glycosylation impairs secretion of WT ADA2. The authors reason that this conclusion may also be drawn for WT ADA2, although the authors do not observe WT ADA2 dimers by immunoblotting. An accumulation of intracellular protein resulting in . . .
  

   

  

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