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

Novel signal transducer and activator of transcription 1 mutation disrupts small ubiquitin-related modifier conjugation causing gain of function.

The Journal of allergy and clinical immunology - 1 May 2018

Sampaio Elizabeth P, Ding Li, Rose Stacey R, Cruz Phillip, Hsu Amy P, Kashyap Anuj, Rosen Lindsey B, Smelkinson Margery, Tavella Tatyana A, Ferre Elise M N, Wierman Meredith K, Zerbe Christa S, Lionakis Michail S, Holland Steven M

Abstract excerpt

BACKGROUND: Sumoylation is a posttranslational reversible modification of cellular proteins through the conjugation of small ubiquitin-related modifier (SUMO) and comprises an important regulator of protein function. OBJECTIVE: We sought to characterize the molecular mechanism of a novel mutation at the SUMO motif on signal transducer and activator of transcription 1 (STAT1). METHODS: STAT1 sequencing and...

Read the complete abstract on PubMed

Topics

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

Share to Candidiasis, Chronic Mucocutaneous
Share to Esophageal Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Esophageal Squamous Cell Carcinoma

Share to Gain of Function Mutation

Share to STAT1 Transcription Factor

Share to SUMO-1 Protein

Share to Sumoylation

Share to Ubiquitin

Source

Open in PubMed Open full text

Identifiers

PMID: 28859974
DOI: 10.1016/j.jaci.2017.07.027
PMCID: PMC5832513

Genes

STAT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel signal transducer and activator of transcription 1 mutation disrupts small ubiquitin-related modifier conjugation causing gain of function.PMID 28859974Read ↗

PIAS proteins promote SUMO-1 conjugation to STAT1.Semantic proximity Read ↗

Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to RuxolitinibSemantic proximity Read ↗

Human Pathogens and the Host Cell SUMOylation SystemSemantic proximity Read ↗

Sumoylation: a regulatory protein modification in health and disease.Semantic proximity Read ↗

SUMO modification of STAT1 and its role in PIAS-mediated inhibition of gene activation.Semantic proximity Read ↗

Identification of sumoylation targets, combined with inactivation of SMT3, reveals the impact of sumoylation upon growth, morphology, and stress resistance in the pathogen Candida albicans.Semantic proximity Read ↗

Transcriptional Profiling of STAT1 Gain-of-Function Reveals Common and Mutation-Specific Fingerprints.Semantic proximity Read ↗

Severe impairment of IFN-γ and IFN-α responses in cells of a patient with a novel STAT1 splicing mutation.Semantic proximity Read ↗

SUMOylation-disrupting WAS mutation converts WASp from a transcriptional activator to a repressor of NF-κB response genes in T cells.Semantic proximity Read ↗

Fatal combined immunodeficiency associated with heterozygous mutation in STAT1.Semantic proximity Read ↗

The crosstalk between SUMOylation and immune system in host-pathogen interactionsSemantic proximity Read ↗

Unraveling the Immunogenetics of STAT Proteins: Clinical Perspectives on Gain-of-Function and Loss-of-Function Variants.Semantic proximity Read ↗

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