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

IKAROS protein stability is regulated by its early N-terminal region and C-terminal dimerization domain.

Clinical immunology (Orlando, Fla.) - 1 May 2025

Klangkalya Natchanun, Esteve-Sole Ana, Gil Silva Agustin A, Stoddard Jennifer L, Niemela Julie E, Prader Seraina, Dueckers Gregor, Igel Lina, Niehues Tim, Stewart-Bates Benjamin C, Mousallem Talal, Fleisher Thomas A, Rosenzweig Sergio D, Kuehn Hye Sun

Abstract excerpt

IKAROS, encoded by IKZF1, is a six zinc-finger (ZF) transcription factor integral to lymphocyte development and function. IKZF1 mutations affecting DNA-binding (ZF1-4) and dimerization (ZF5-6) have been extensively reported and result in human disease. Herein, we investigated IKZF1 mutations affecting protein stability. We identified ten individuals in three families carrying IKZF1 mutations mapping either to the...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to IKZF1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ikaros Transcription Factor

Share to Mutation

Share to Pedigree

Share to Protein Domains

Share to Protein Multimerization

Share to Protein Stability

Source

Open in PubMed Open full text

Identifiers

PMID: 40024461
DOI: 10.1016/j.clim.2025.110469
PMCID: PMC11929600

Genes

IKZF1

Variants

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

IKAROS protein stability is regulated by its early N-terminal region and C-terminal dimerization domain.PMID 40024461Read ↗

Germline IKZF1 mutations and their impact on immunity: IKAROS-associated diseases and pathophysiology.Semantic proximity Read ↗

Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiencySemantic proximity Read ↗

Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation.Semantic proximity Read ↗

IKAROS-Associated Diseases in 2020: Genotypes, Phenotypes, and Outcomes in Primary Immune Deficiency/Inborn Errors of Immunity.Semantic proximity Read ↗

Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domainsSemantic proximity Read ↗

Systematic functional validation of IKAROS variants from patients and laboratory-generated mutations.Semantic proximity Read ↗

A de novo IKZF4 variant impairs marginal zone B cells and regulatory T cells by downregulating the NF-κB pathwaySemantic proximity Read ↗

Ikaros-Associated Diseases: From Mice to Humans and Back AgainSemantic proximity Read ↗

Identification and Functional Analysis of a de novo IKZF3 Mutation in a Pediatric Patient with Combined Immunodeficiency.Semantic proximity Read ↗

IKAROS Family Zinc Finger 1-Associated Diseases in Primary Immunodeficiency Patients.Semantic proximity Read ↗

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.Semantic proximity Read ↗

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.Semantic proximity Read ↗

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