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

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.

SUBMITTER: Zaghloul NA 

PROVIDER: S-EPMC2648685 | biostudies-literature | 2009 Mar

REPOSITORIES: biostudies-literature

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

Zaghloul Norann A NA   Katsanis Nicholas N  

The Journal of clinical investigation 20090302 3

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 cell  ...[more]

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