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Usage Information

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy
Norann A. Zaghloul, Nicholas Katsanis
Norann A. Zaghloul, Nicholas Katsanis
Published March 2, 2009
Citation Information: J Clin Invest. 2009;119(3):428-437. https://doi.org/10.1172/JCI37041.
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Science in Medicine

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

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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.

Authors

Norann A. Zaghloul, Nicholas Katsanis

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Usage data is cumulative from June 2024 through June 2025.

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PDF 84 62
Figure 248 6
Table 97 0
Supplemental data 37 2
Citation downloads 64 0
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Total Views 2,009
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