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Article

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

Journal of molecular medicine (Berlin, Germany) - 1 Sept 2012

Parodi Sara, Di Zanni Eleonora, Di Lascio Simona, Bocca Paola, Prigione Ignazia, Fornasari Diego, Pennuto Maria, Bachetti Tiziana, Ceccherini Isabella

Abstract excerpt

Expansions of a polyalanine (polyA) stretch in the coding region of the PHOX2B gene cause congenital central hypoventilation syndrome (CCHS), a neurocristopathy characterized by the absence of adequate control of autonomic breathing. Expansion of polyA in PHOX2B leads to protein misfolding and accumulation into inclusions. The mechanisms that regulate mutant protein degradation and turnover have been poorly...

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Source

Identifiers

PMID: 22307522
DOI: 10.1007/s00109-012-0868-1

Genes

TRIM11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B.PMID 22307522Read ↗

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