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

Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation.

Human molecular genetics - 15 Feb 2014

Lee Kristie, Mattiske Tessa, Kitamura Kunio, Gecz Jozef, Shoubridge Cheryl

Abstract excerpt

Intellectual disability (ID) is a highly prevalent disorder that affects 1-3% of the population. The Aristaless-related homeobox gene (ARX) is a frequently mutated X-linked ID gene and encodes a transcription factor indispensable for proper forebrain, testis and pancreas development. Polyalanine expansions account for over half of all mutations in ARX and clinically give rise to a spectrum of ID and seizures. To...

Read the complete abstract on PubMed

Topics

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

Share to Gene Expression Regulation, Developmental
Share to Homeodomain Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to LIM Domain Proteins

Share to Neurogenesis

Share to Nuclear Proteins

Share to Peptides

Share to Prosencephalon

Share to Telencephalon

Source

Identifiers

PMID: 24122442
DOI: 10.1093/hmg/ddt503

Genes

ARX
GCG

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

Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation.PMID 24122442Read ↗

Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene.Semantic proximity Read ↗

Differential effects of a polyalanine tract expansion in Arx on neural development and gene expression.Semantic proximity Read ↗

Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy.Semantic proximity Read ↗

Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene.Semantic proximity Read ↗

Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous systemSemantic proximity Read ↗

Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosageSemantic proximity Read ↗

Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy.Semantic proximity Read ↗

Protein degradation shapes developmental tempo in mouse and human neural progenitorsSemantic proximity Read ↗

ARX spectrum disorders: making inroads into the molecular pathology.Semantic proximity Read ↗

Dual effects of <i>ARX</i> poly-alanine mutations in human cortical and interneuron developmentSemantic proximity Read ↗

Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms.Semantic proximity Read ↗

An Epilepsy-Related ARX Polyalanine Expansion Modifies Glutamatergic Neurons Excitability and Morphology Without Affecting GABAergic Neurons DevelopmentSemantic proximity Read ↗

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