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Article

Interaction between PHOX2B and CREBBP mediates synergistic activation: mechanistic implications of PHOX2B mutants.

Human mutation - 1 Apr 2009

Wu Han-Tsang, Su Yi-Ning, Hung Chia-Cheng, Hsieh Wu-Shiun, Wu Kou-Juey

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system. The genetic defect is usually caused by heterozygous mutations of the PHOX2B gene such as a 20-alanine tract (+5 to+13 alanines) expansion (approximately 95%) and occasional frameshift or missense mutations. Cytoplasmic aggregates were shown in PHOX2B proteins with longer alanine tract (+9 and longer) expansion and...

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Source

Identifiers

PMID: 19191321
DOI: 10.1002/humu.20929

Genes

CREBBP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Interaction between PHOX2B and CREBBP mediates synergistic activation: mechanistic implications of PHOX2B mutants.PMID 19191321Read ↗

Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome.Semantic proximity Read ↗

Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear ImportSemantic proximity Read ↗

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction.Semantic proximity Read ↗

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.Semantic proximity Read ↗

PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?Semantic proximity Read ↗

Mutations that disrupt PHOXB interaction with the neuronal calcium sensor HPCAL1 impede cellular differentiation in neuroblastoma.Semantic proximity Read ↗

Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome.Semantic proximity Read ↗

The Pleiotropic Face of CREB Family Transcription FactorsSemantic proximity Read ↗

CCAAT/enhancer-binding protein family members recruit the coactivator CREB-binding protein and trigger its phosphorylation.Semantic proximity Read ↗

Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.Semantic proximity Read ↗

Congenital central hypoventilation syndrome with PHOX2B gene mutation in a Taiwanese infant.Semantic proximity Read ↗

Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and miceSemantic proximity Read ↗

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