Nature Communications (Mar 2022)

Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition

  • Markus Masek,
  • Christelle Etard,
  • Claudia Hofmann,
  • Andreas J. Hülsmeier,
  • Jingjing Zang,
  • Masanari Takamiya,
  • Matthias Gesemann,
  • Stephan C. F. Neuhauss,
  • Thorsten Hornemann,
  • Uwe Strähle,
  • Ruxandra Bachmann-Gagescu

DOI
https://doi.org/10.1038/s41467-022-28982-6
Journal volume & issue
Vol. 13, no. 1
pp. 1 – 17

Abstract

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Primary cilia are key sensory organelles whose dysfunction leads to ciliopathy disorders such as Bardet-Biedl syndrome (BBS). Here they identify a role for Bbs1 in lipid homeostasis of photoreceptor outer segments in zebrafish, which may contribute to vision loss in patients with Bardet-Biedl syndrome.