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PMID: 19252258 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review

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

The Journal of clinical investigation ·Vol. 119 ·No. 3 ·2009-03-00 ·Pages 428-37

Zaghloul NA, Katsanis N

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.

MeSH Terms
Animals Bardet-Biedl Syndrome/epidemiology,genetics,pathology,physiopathology Chromosome Mapping Cilia/pathology Ciliary Motility Disorders/genetics Humans Obesity/genetics Phenotype Polydactyly/genetics Prevalence Retinal Diseases/genetics Vertebrates
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Zaghloul Norann A
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Katsanis Nicholas
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Article Info
Journal
The Journal of clinical investigation
Abbr.
J Clin Invest
ISSN
1558-8238
DOI
10.1172/JCI37041
Published
2009-03-00
Epub
2009-00-02
Pages
428-37
Language
English
Region
United States
NLM ID
7802877
PMCID
PMC2648685
Subset
IM
Grants
NICHD NIH HHS · R01 HD 04260 · United States
NIDDK NIH HHS · R01 DK072301 · United States
NIDDK NIH HHS · P30 DK079637 · United States
NIDDK NIH HHS · R01 DK 075972 · United States
NIDDK NIH HHS · R01 DK075972 · United States
NIDDK NIH HHS · R01 DK 072301 · United States
External Links
PubMed source DOI: 10.1172/JCI37041 PMC Full Text View journal details
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