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Pathogenic mechanisms of PHOX2B in CCHS

  Challenge: Rare diseases

PI: Javier Oroz


Polyalanine expansions in PHOX2B are responsible for the develoment of the rare disease CCHS. The pathogenic mechanisms that trigger disease are fully unknown. We aim to understand the structural basis of toxic poly-alanine expansions in PHOX2B as a model to understand the principles of pathogenicity for trinucleotide repeat expansions. We employ advanced NMR spectroscopy methods for the structural analysis of PHOX2B considering its extremely low sequence complexity.

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In the figure, putative domain architecture in PHOX2B. Stars indicate proposed amyloidogenic segments.




  • Spanish Ondine Association (2019)
  • Mexican Ondine Association (2020)