Article

Human ADA2 deficiency is characterized by the absence of an intracellular hypoglycosylated form of adenosine deaminase 2

2023-10-29

Abstract excerpt

Human deficiency of adenosine deaminase 2 (DADA2) is an autoinflammatory disease caused by pathogenic variants in ADA2 that lead to impaired deaminase activity. Recently, a lysosomal function of ADA2 has been proposed but an intracellular form of the protein has not yet been characterized. Here, we analyze protein expression of mutant ADA2 in human monocyte-derived macrophages from 10 DADA2 patients. We identify...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 7847421c-df21-542d-bc8f-d8b4af70eb74
DOI: 10.1101/2023.10.25.564037

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Human ADA2 deficiency is characterized by the absence of an intracellular hypoglycosylated form of adenosine deaminase 2DOI 10.1101/2023.10.25.564037Read

Pathogenic variant c.1052T>A (p.Leu351Gln) in adenosine deaminase 2 impairs secretion and elevates type I IFN responsive gene expression.Semantic proximity Read

ADA2 is a lysosomal DNase regulating the type-I interferon responseSemantic proximity Read

Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2.Semantic proximity Read

Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.Semantic proximity Read

Dominant negative<i>ADA2</i>mutations cause ADA2 deficiency in heterozygous carriersSemantic proximity Read

DADA2 as a Model of Monogenic Immune Vasculopathy: From Immunopathogenesis to Precision Therapeutics.Semantic proximity Read

Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single-cell RNA sequencing of monocytes.Semantic proximity Read

Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2.Semantic proximity Read

Human adenosine deaminase 2 deficiency: A multi‐faceted inborn error of immunitySemantic proximity Read

Deficiency of adenosine deaminase 2 (DADA2): Review.Semantic proximity Read

Deficiency of Adenosine Deaminase 2Semantic proximity Read

TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2).Semantic proximity Read