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

RNF12 X-Linked Intellectual Disability Mutations Disrupt E3 Ligase Activity and Neural Differentiation.

Cell reports - 8 May 2018

Bustos Francisco, Segarra-Fas Anna, Chaugule Viduth K, Brandenburg Lennart, Branigan Emma, Toth Rachel, Macartney Thomas, Knebel Axel, Hay Ronald T, Walden Helen, Findlay Greg M

Abstract excerpt

X-linked intellectual disability (XLID) is a heterogeneous syndrome affecting mainly males. Human genetics has identified >100 XLID genes, although the molecular and developmental mechanisms underpinning this disorder remain unclear. Here, we employ an embryonic stem cell model to explore developmental functions of a recently identified XLID gene, the RNF12/RLIM E3 ubiquitin ligase. We show that RNF12 catalytic...

Read the complete abstract on PubMed

Topics

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

Share to Biocatalysis
Share to Genes, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neural Stem Cells

Share to Protein Multimerization

Share to Protein Stability

Share to Proteolysis

Share to Ubiquitin

Share to Ubiquitination

Source

Open in PubMed Open full text

Identifiers

PMID: 29742418
DOI: 10.1016/j.celrep.2018.04.022
PMCID: PMC5976579

Genes

RLIM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

RNF12 X-Linked Intellectual Disability Mutations Disrupt E3 Ligase Activity and Neural Differentiation.PMID 29742418Read ↗

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.Semantic proximity Read ↗

A novel <i>RLIM/RNF12</i> variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndromeSemantic proximity Read ↗

Specific genomic targeting of the RNF12/RLIM E3 ubiquitin ligase selectively programmes developmental transcriptionSemantic proximity Read ↗

Emerging roles for E3 ubiquitin ligases in neural development and diseaseSemantic proximity Read ↗

A novel missense variant at the site of interaction between RLIM and E2 ubiquitin-conjugating enzymes causes Tønne-Kalscheuer syndrome.Semantic proximity Read ↗

REX1 is the critical target of RNF12 in imprinted X chromosome inactivation in miceSemantic proximity Read ↗

Increased p53 signaling impairs neural differentiation causing HUWE1-promoted intellectual disabilitiesSemantic proximity Read ↗

RLS-associated MEIS transcription factors control distinct processes in human neural stem cellsSemantic proximity Read ↗

RNF13: an emerging RING finger ubiquitin ligase important in cell proliferationSemantic proximity Read ↗

An RNF12-USP26 amplification loop drives germ cell specification and is disrupted by disease-associated mutations.Semantic proximity Read ↗

Functional diversification of Ser-Arg rich protein kinases to control ubiquitin-dependent neurodevelopmental signallingSemantic proximity Read ↗

Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities.Semantic proximity Read ↗

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