Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

Norann A. Zaghloul, Elias Nicholas Katsanis*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

293 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)428-437
Number of pages10
JournalJournal of Clinical Investigation
Volume119
Issue number3
DOIs
StatePublished - Mar 2 2009

ASJC Scopus subject areas

  • Medicine(all)

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