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Article

Molecular insights into the role of the polyalanine region in mediating PHOX 2B aggregation

7 Apr 2019

Abstract excerpt

About 90% of congenital central hypoventilation syndrome (CCHS) patients show polyalanine triplet expansions in the coding region of transcription factor PHOX2B, which renders this protein an intriguing target to understand the insurgence of this syndrome and for the design of a novel therapeutical approach. Consistently with the role of PHOX2B as a transcriptional regulator, it is reasonable that a general...

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PMID: 30955232
DOI: 10.1111/febs.14841

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Molecular insights into the role of the polyalanine region in mediating PHOX 2B aggregationPMID 30955232Read ↗

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

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Alternative low-populated conformations prompt phase transitions in polyalanine repeat expansions.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 defects alter protein folding, cell-cycle, and mitochondrial pathways in an in vitro model of CCHS.Semantic proximity Read ↗

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

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

Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome.Semantic proximity Read ↗

Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome.Semantic proximity Read ↗

Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.Semantic proximity Read ↗

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