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Article

PHOX2B defects alter protein folding, cell-cycle, and mitochondrial pathways in an in vitro model of CCHS.

Molecular medicine (Cambridge, Mass.) - 18 May 2026

Africano Chiara, Bachetti Tiziana, Di Zanni Eleonora, Santamaria Giuseppe, Cusano Roberto, Prigione Ignazia, Del Zotto Genny, Uva Paolo, Ceccherini Isabella

Abstract excerpt

BACKGROUND: Congenital Central Hypoventilation Syndrome (CCHS) is a rare autosomal dominant disorder caused by heterozygous mutations in the PHOX2B gene, leading to impaired ventilatory responses to hypoxia and hypercapnia. No pharmacological therapy exists, and patients rely on ventilatory support, tracheostomy, or diaphragmatic pacing. Most mutations are polyalanine expansions in exon 3, which mislocalize...

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Identifiers

PMID: 42151761
DOI: 10.1186/s10020-026-01498-1
PMCID: PMC13245080

Genes

PHOX2B

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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PHOX2B defects alter protein folding, cell-cycle, and mitochondrial pathways in an in vitro model of CCHS.PMID 42151761Read ↗

Molecular insights into the role of the polyalanine region in mediating PHOX 2B aggregationSemantic proximity Read ↗

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

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

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

Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).Semantic proximity Read ↗

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.Semantic proximity Read ↗

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

<i>PHOX2B</i> mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndromeSemantic proximity Read ↗

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

The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B.Semantic proximity Read ↗

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

Causative and common PHOX2B variants define a broad phenotypic spectrumSemantic proximity Read ↗

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