Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.

Published

Journal Article (Review)

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.

Full Text

Cited Authors

  • Zaghloul, NA; Katsanis, N

Published Date

  • March 2009

Published In

Volume / Issue

  • 119 / 3

Start / End Page

  • 428 - 437

PubMed ID

  • 19252258

Pubmed Central ID

  • 19252258

Electronic International Standard Serial Number (EISSN)

  • 1558-8238

Digital Object Identifier (DOI)

  • 10.1172/JCI37041

Language

  • eng

Conference Location

  • United States