Showing posts with label Ciliopathy. Show all posts
Showing posts with label Ciliopathy. Show all posts

Tuesday, April 29, 2014

Hedgehog signaling and cilia--fly study related to a variety of human diseases

Kuzhandaivel A, Schultz SW, Alkhori L, Alenius M. Cilia-Mediated Hedgehog Signaling in Drosophila. Cell Rep. 2014 Apr 23. pii: S2211-1247(14)00249-6. PMID: 24768000.

From the abstract: "Cilia mediate Hedgehog (Hh) signaling in vertebrates and Hh deregulation results in several clinical manifestations, such as obesity, cognitive disabilities, developmental malformations, and various cancers. ... We demonstrate that several fundamental key aspects of the vertebrate cilia pathway ... are present in Drosophila. ... our data demonstrate that Hh signaling in Drosophila can be mediated by two pathways and that the ciliary Hh pathway is conserved from Drosophila to vertebrates."

Tuesday, April 8, 2014

Cross-species study related to Bardet-Biedl syndrome

Leitch CC, Lodh S, Prieto-Echagüe V, Badano JL, Zaghloul NA. Basal body proteins regulate Notch signaling via endosomal trafficking. J Cell Sci. 2014 Mar 28. PMID: 24681783.

Wednesday, September 19, 2012

Fly study links Ellis-van Creveld syndrome genes to Hedgehog pathway. Recent report.


Yang C, Chen W, Chen Y, Jiang J. Smoothened transduces Hedgehog signal by forming a complex with Evc/Evc2. Cell Res. 2012 Sep 18. doi: 10.1038/cr.2012.134. PubMed PMID: 22986504.

Additional ciliopathies for which there are putative fly orthologs of the human disease-associated genes include Ciliary Dykinesia, Joubert Syndrome and Bardet-Biedl Syndrome.