[HTML][HTML] Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

NA Zaghloul, N Katsanis - The Journal of clinical …, 2009 - Am Soc Clin Investig
NA Zaghloul, N Katsanis
The Journal of clinical investigation, 2009Am Soc Clin Investig
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 …
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.
The Journal of Clinical Investigation