Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Recurrent Mutations of the Active Adenylation Domain of UBA1 in Atypical Form of VEXAS Syndrome

24 Mar 2023

Abstract excerpt

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome has been recently described as a severe autoinflammatory disease associated with hematological manifestations such as vacuolization of precursors and macrocytosis.1,2 VEXAS is the consequence of somatically acquired mutations of ubiquitin-like modifier activating enzyme 1 (UBA1), which impair the translation of the cytoplasmic isoform of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Immunodeficiency and Autoimmune Disorders
Share to Otitis Media and Relapsing Polychondritis
Share to Peptidase Inhibition and Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 36999004
DOI: 10.1097/hs9.0000000000000868

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recurrent Mutations of the Active Adenylation Domain of UBA1 in Atypical Form of VEXAS SyndromePMID 36999004Read ↗

Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome.Semantic proximity Read ↗

Novel causative variants of VEXAS in UBA1 detected through whole genome transcriptome sequencing in a large cohort of hematological malignanciesSemantic proximity Read ↗

Novel Somatic UBA1 Variant in a Patient With VEXAS Syndrome.Semantic proximity Read ↗

Distinct characteristics of VEXAS-causative UBA1 M41 and recurrent functional non-M41 mutations.Semantic proximity Read ↗

VEXAS syndrome.Semantic proximity Read ↗

An update on VEXAS syndrome.Semantic proximity Read ↗

Somatic mutations in VEXAS Syndrome and Erdheim-Chester disease: Inflammatory myeloid diseases.Semantic proximity Read ↗

Lost in translation: cytoplasmic UBA1 and VEXAS syndromeSemantic proximity Read ↗

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome.Semantic proximity Read ↗

VEXAS syndrome: a comprehensive review of pathogenesis, clinical spectrum, and therapeutic strategies.Semantic proximity Read ↗

VEXAS Syndrome Beyond UBA1: Genetic Architecture and the Role of Co-Occurring Somatic Mutations-A Focused Review.Semantic proximity Read ↗

Behçet's disease with a somatic UBA1 variant:Expanding spectrum of autoinflammatory phenotypes of VEXAS syndromeSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.