1. Academic Validation
  2. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

  • J Clin Invest. 2009 Mar;119(3):428-37. doi: 10.1172/JCI37041.
Norann A Zaghloul 1 Nicholas Katsanis
Affiliations

Affiliation

  • 1 McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Abstract

Bardet-Biedl syndrome (BBS) is a multisystemic disorder typified by developmental and progressive degenerative defects. A combination of genetic, in vitro, and in vivo studies have highlighted ciliary dysfunction as a primary cause of BBS pathology, which has in turn contributed to the improved understanding of the functions of the primary cilium in humans and other vertebrates. Here we discuss the evidence linking the clinical BBS phenotype to ciliary defects, highlight how the genetic and cellular characteristics of BBS overlap with and inform other ciliary disorders, and explore the possible mechanistic underpinnings of ciliary dysfunction.

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