Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2
Journal
Journal of Allergy and Clinical Immunology
Journal Volume
142
Journal Issue
4
Pages
1363-136500000000
Date Issued
2018
Author(s)
Lee P.Y
Subjects
adenosine deaminase; adenosine deaminase 2; complementary DNA; glutamine; RNA; unclassified drug; ADA2 protein, human; adenosine deaminase; signal peptide; 3' untranslated region; adenosine deaminase deficiency; allele; Article; brain hemorrhage; case report; child; clinical article; congenital disorder of glycosylation; enzyme activity; exon; female; gene deletion; genetic analysis; genetic variability; glycosylation; heterozygosity; heterozygote; human; inflammation; livedo reticularis; maternal plasma; missense mutation; multiplex ligation dependent probe amplification; papule; preschool child; priority journal; protein expression; protein folding; protein function; protein processing; protein transport; RNA stability; Sanger sequencing; sequence alignment; site directed mutagenesis; stop codon; agammaglobulinemia; blood; genetics; mutation; severe combined immunodeficiency; Adenosine Deaminase; Agammaglobulinemia; Child, Preschool; Female; Glycosylation; Humans; Intercellular Signaling Peptides and Proteins; Mutation; Severe Combined Immunodeficiency
SDGs
Type
journal article